#geneticrisk — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #geneticrisk, aggregated by home.social.
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DATE: September 15, 2026 at 02:00PM
SOURCE: PSYPOST.ORG** Research quality varies widely from fantastic to small exploratory studies. Please check research methods when conclusions are very important to you. **
-------------------------------------------------TITLE: Public treats risks for low intelligence and heart disease similarly when selecting embryos
People often report feeling more comfortable using genetic screening to avoid medical conditions than to select for non-medical traits. However, new research suggests that when prospective parents actually choose which embryo to implant, they tend to weigh non-medical traits just as heavily as medical ones. These findings, published in Nature Human Behaviour, indicate that the distinction between medical and non-medical traits becomes blurry when people make concrete reproductive choices.
Preimplantation genetic testing is a medical procedure used during in vitro fertilization. Before an embryo is transferred to a uterus, doctors extract a small number of cells and analyze the genetic material. Polygenic testing is a specific type of this analysis that looks at thousands of genetic variations at once.
Rather than identifying a single genetic mutation that causes a disease through a direct biological mechanism, polygenic testing relies on statistical models. It calculates a risk estimate by comparing an embryo’s DNA against population-level data. The resulting scores do not reveal an innate genetic predisposition or a fixed biological destiny. Instead, they provide a statistical estimate of the chances a person might develop complex characteristics, ranging from heart disease to intelligence.
Initial surveys established that the public is surprisingly open to screening embryos using these complex statistical scores. For instance, a 2023 study found that the American public is broadly willing to consider screening embryos for complex physical and behavioral traits.
Subsequent work revealed that non-Western populations might be even more accepting of selecting for non-medical traits. A 2025 survey indicated that people in Singapore were more receptive to using embryo screening for educational and cognitive outcomes than Americans were.
The new study takes the next step by testing whether people’s stated moral attitudes match how they act when weighing medical risks against personal traits. The research, led by Edmond Awad, a senior lecturer at the University of Exeter and senior research fellow at the University of Oxford, along with Julian Savulescu and Dominic Wilkinson, sought to understand if providing these statistical estimates shapes prospective parents’ choices, even if they initially express reluctance to test for non-medical traits.
“I have argued for a long time that when parents are choosing between embryos they have reason to choose the one expected to have the best life, and that the medical label is the wrong place to draw the line,” Savulescu, the Chen Su Lan centennial professor in medical ethics and director of the Centre for Biomedical Ethics at the National University of Singapore, told PsyPost. “This study was about what people actually do.”
“My hunch was that people would not sort attributes into medical and non-medical once a real choice was in front of them, and that they would go instead by how much an attribute would affect the child,” Savulescu explained. He noted that Awad had previously run the Moral Machine, which guided millions of people through online moral dilemmas about automated vehicles, making a similar approach ideal for this question. “Those pilots turned up a gap between what people said they wanted tested and what they did with the information once they had it.”
The authors noted a psychological phenomenon known as deliberate ignorance, where people might avoid learning about non-medical traits to sidestep ethical dilemmas. However, if a clinic provides that statistical information anyway, those same people might still use it to make reproductive decisions. The team recruited 1,467 adults in the United States for an online experiment. They focused on four specific attributes that a polygenic score might estimate. Two of these were medical conditions: heart disease and vision impairment. Two were non-medical traits: low cognitive ability and antisocial behavior.
The US participants were split into two separate groups. The first group was asked if they would be willing to use polygenic testing to calculate risk estimates for each of the four attributes. Participants simply answered whether they would say yes, no, or not sure to receiving this statistical information.
The results from this first group indicated that 66.7 percent of participants were willing to test for the medical conditions. A slightly lower portion, 61.4 percent, were willing to test for the non-medical traits. Though the preference for medical testing was higher, well over half of the participants still supported screening for intelligence and behavioral tendencies.
“This was a Registered Report. Our hypotheses and our analysis plan were reviewed and accepted by the journal in October 2025, before we collected any data, so the results could not be shaped after the fact,” Awad explained. “On the basis of our own pilot studies, and of other recent work, we registered a prediction that most people would not want testing for low IQ or antisocial behavior. The opposite happened. Sixty-one percent said they would.” He suggested this could be due to wording—asking about avoiding negative traits rather than selecting positive ones—or a general shift toward greater willingness to test.
The second group of US participants faced a different task. They were presented with hypothetical scenarios where genetic testing had already been completed on two viable embryos. The participants had to choose which embryo to implant based on statistical estimates for two of the four attributes. In these scenarios, the statistical models predicted that the embryos had either an average chance, a 5 percent above-average chance, or a 5 percent below-average chance of developing the assigned traits.
When forced to make a choice, participants avoided embryos with an above-average chance of undesirable non-medical traits just as strongly as they avoided those with medical conditions. “What we found was that in the US sample, an embryo with a higher-than-average chance of developing heart disease in later life was about 40 percentage points less likely to be chosen than one with an average chance,” said Wilkinson, a professor of medical ethics at the University of Oxford and consultant neonatologist. “For antisocial behavior the gap was 36 points, for low IQ 32 points, and for vision impairment 19 points.”
“In our studies we told participants that ‘above average’ meant 5 percentage points above the average chance,” Wilkinson added. “So a fairly small change in the odds for the future child produced a very large change in the choice. That will be familiar to anyone who counsels parents. People are not weighing probabilities the way a statistician would.” Savulescu agreed, noting that people care deeply about small probabilities when the stakes are high, and a “child’s life, how good it is, is a high stake.”
Participants penalized embryos for having a higher statistical risk of low intelligence or antisocial behavior to the same degree as a higher risk of heart disease. All three attributes were avoided much more strongly than a higher chance of vision impairment. The researchers also set up direct trade-off scenarios, forcing participants to choose between an embryo with a higher statistical risk for a medical condition and one with a higher statistical risk for a non-medical trait.
In these head-to-head comparisons, vision impairment was consistently tolerated more than any other attribute. Participants frequently chose to implant an embryo with a higher chance of vision issues if it meant avoiding a higher chance of low intelligence, antisocial behavior, or heart disease. The findings suggest that when genetic information is already available, the dividing line between medical and non-medical traits fades.
To see if these patterns held across different cultures, the researchers ran a similar experiment with 623 participants in China. These participants completed the embryo selection task without the initial willingness survey. The results were largely similar to the American group, demonstrating a widespread tendency to avoid non-medical traits when the statistical estimates are available. However, Chinese participants showed an even stronger aversion to embryos with a higher chance of low intelligence compared to the American group.
The researchers also asked participants to rate the four attributes on several dimensions, such as how controllable they are and how much they affect a person’s life. The team initially predicted that people would avoid traits that seemed harder to manage. Instead, the data suggests that perceived seriousness drove the decisions. If an attribute was seen as having a severe impact on a person’s life, participants avoided it, regardless of whether it was categorized as a medical condition or a non-medical trait.
“What people say they want tested does not tell you what they will do with the answer,” Savulescu said. “The label on an attribute is doing less work than people assume. What guided the choice was how serious the outcome seemed for the child. Doctors and regulators care about disease; people care about well-being, of their child and others.”
Wilkinson emphasized that this behavior shouldn’t be misconstrued: “This study does not show that people want designer babies,” he said. “What we found is that people want to avoid their children having genetic risk factors that might affect how well their life will go in the future. It is important to note that these were hypothetical scenarios and we don’t know what people would do in real life, especially when there are risks or financial costs involved.”
As with all research, there are a few things to keep in mind. The study relied on hypothetical scenarios that presented a flat 5 percent change in risk for all traits. In reality, polygenic scores for complex behavioral traits are currently less exact than scores for medical conditions. Presenting a uniform 5 percent shift in predictability might overstate the current capabilities of the technology for behavioral traits, making the choice seem simpler than it would be in a clinic.
“We do realize that our dilemmas are simplified versions of the trade-offs real parents face,” Awad said. “In a clinic the average chances differ from one attribute to the next, the numbers arrive with a margin of error, and how much each score is worth varies a great deal between attributes. We stripped all of that out on purpose, so that the only thing separating our four attributes was the attributes themselves rather than the way they were dressed up. That is what let us test the category question cleanly.”
Wilkinson also cautioned that “within a family, where the embryos share the same parents, polygenic prediction for behavioral traits such as cognitive ability is much weaker than our scenarios imply, so the real gains from selecting on them would be far smaller.”
Additionally, participants in the selection task were forced to make a decision based on the information provided to them. In a real clinical setting, prospective parents might choose not to look at certain genetic information at all. The act of opting out of genetic results could completely change the outcome of an embryo selection process. Future studies might explore how actual clinic patients navigate these decisions when they have the freedom to reject certain trait predictors.
“I’d like to note that one of the practical points is about consent,” Wilkinson said. “Some clinics today hand parents a panel of scores they never asked to see, laid out in a uniform way whatever each score is actually worth. It is important to be aware that the way that information is arranged may shape the decision that prospective parents make. Signing a consent form is not the same as making a considered choice.”
The research is part of ANTITHESES, a Wellcome Trust-funded project examining deep value disagreements. “We wanted to identify tools to reveal what people’s values are that drive disagreement,” Savulescu said. “What we saw was that people value some non-medical aspects of well-being nearly as much as they value medical aspects. This shows people do not draw a sharp line between medical conditions and non-disease traits.”
“What the public prefers does not settle what is right. Colleagues and I have argued before that public preferences are an input to ethical policy rather than a verdict on it,” Savulescu added. “What this study shows is that one of the categories the current rules are built on, medical against non-medical, does not describe how people actually reason when they have to choose. That is a reason to look again at the categories.”
To expand on these findings, Awad noted the team has launched Tinker Tots, an open online experiment that presents embryo selection dilemmas across a wider range of traits and countries. “After that we want to get closer to the clinic,” he added, “and study people who are actually going through IVF.”
The study, “Public perceptions of polygenic testing and embryo selection for non-medical traits,” was authored by Edmond Awad, Clara Colombatto, Joanna Demaree-Cotton, Brian D. Earp, Jim A. C. Everett, Peng Liu, G. Owen Schaefer, Ilina Singh, Dominic Wilkinson, and Julian Savulescu.
-------------------------------------------------
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#psychology #counseling #socialwork #psychotherapy @psychotherapist @psychotherapists @psychology @socialpsych @socialwork @psychiatry #mentalhealth #psychiatry #healthcare #depression #psychotherapist #polygenictesting #embryoselection #IVFethics #medicalvsnonmedicaltraits #geneticrisk #wellbeingoverlabels #ethicsinreproduction #intelligenceandhealth #deliberateignorance #polygenicscores
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DATE: September 5, 2026 at 06:00AM
SOURCE: PSYPOST.ORG** Research quality varies widely from fantastic to small exploratory studies. Please check research methods when conclusions are very important to you. **
-------------------------------------------------TITLE: Over half the risk for postpartum psychosis is tied to genetics, large study finds
New research published in Molecular Psychiatry indicates that postpartum psychosis is heavily influenced by both common and rare genetic factors, with about half of the risk tied to genetics. The study also identified a specific gene involved in cholesterol production that provides evidence for shared biological pathways between postpartum psychosis, schizophrenia, and certain autoimmune conditions.
Postpartum psychosis is a rare but severe mental health emergency that occurs in roughly 1 to 2 out of every 1,000 mothers shortly after childbirth. It involves an abrupt onset of symptoms like mania, severe depression, confusion, and psychosis, which is when a person loses touch with reality through hallucinations or delusions. The condition poses heavy risks to both the mother and the infant, often requiring immediate medical hospitalization.
Earlier research established that this vulnerability has deep biological roots. A 2001 study showed that the tendency to experience a severe psychotic episode triggered specifically by childbirth runs strongly in families. Moving beyond familial history, a 2013 study discovered that women experiencing their first episode of postpartum psychosis show disruptions in their immune systems.
Alongside these immune factors, metabolic changes have also been implicated, as a 2017 meta-analysis suggested that people going through their first psychotic episode tend to have altered cholesterol levels. These findings paved the way for large-scale genetic sequencing to pinpoint the exact genes and shared biological pathways involved. To build on these insights, researchers led by Seulgi Jung and study co-author Behrang Mahjani, an assistant professor at the Icahn School of Medicine at Mount Sinai who directs the Mahjani Lab, aimed to detail the specific genetic architecture of postpartum psychosis.
“Postpartum psychosis is a severe but understudied psychiatric disorder,” Mahjani told PsyPost. “Our previous study showed that sisters of women with postpartum psychosis have a markedly elevated risk, but its heritability had not been quantified and no specific risk genes had been identified. We therefore examined the contribution of both common and rare genetic variation to the disorder.”
The researchers first used data from Swedish national registers to estimate the overall genetic risk of the disorder. They examined health records from over 1.6 million mothers who gave birth to their first child between 1980 and 2017. Among this massive group, 2,514 mothers, or 0.15 percent, developed postpartum psychosis.
By tracking the health records of the mothers’ sisters and cousins, the researchers estimated the heritability of postpartum psychosis to be 55 percent. This indicates that more than half of the variation in who develops the condition can be attributed to genetic factors, a rate similar to that of bipolar disorder.
“The genetic contribution is substantial,” Mahjani explained. “Heritability in this range means that inherited variation accounts for a large share of the differences in vulnerability between individuals, comparable to what is seen for bipolar disorder and schizophrenia.”
“This supports the view that postpartum psychosis reflects an underlying biological vulnerability rather than being simply a psychological reaction to the stress of childbirth,” he added.
To see how much of this heritability comes from common genetic variations, the team turned to the All of Us Research Program, a large national database of genetic and health information. They focused on whole-genome sequencing data from 198 mothers of European ancestry who had experienced postpartum psychosis, comparing them to 2,013 matched controls.
The team found that common genetic variants explained about 45.6 percent of the risk for postpartum psychosis. Because this is slightly lower than the 55 percent heritability estimated from family histories, it suggests that rarer genetic variations also play a role in the disorder.
The researchers then looked closely at rare genetic changes, specifically focusing on protein-truncating variants. These are severe mutations that essentially break a gene, preventing it from producing a functional protein. They analyzed a larger sample of 461 cases of postpartum psychosis and 4,610 unaffected controls.
Women with postpartum psychosis had an unusually high number of these disruptive mutations in genes that are generally highly constrained, meaning the genes do not usually tolerate mutations well without causing major biological problems. Based on these mutation patterns, the researchers estimated that there are around 81 specific genes that contribute to the risk of postpartum psychosis.
When analyzing which individual genes were most affected, the gene HMGCR stood out strongly. This gene contains the instructions for making a key enzyme that controls how the body produces cholesterol. A second gene, DNMT1, which helps maintain how DNA is regulated and read by the body, also showed a possible, though less certain, link to the disorder.
“The rare variants in HMGCR have large effects in the people who carry them, which is what allowed us to detect the gene despite a relatively modest sample,” Mahjani noted.
However, he cautioned against oversimplifying this connection. “HMGCR should not be read as ‘the postpartum psychosis gene,'” he said. “It is one of the many genes contributing to risk, and like other severe psychiatric disorders the condition is highly polygenic.”
To explore the broader impact of these genes, the researchers checked for mutations in HMGCR and DNMT1 across hundreds of thousands of individuals in two large medical biobanks. They found that rare mutations in HMGCR were also linked to conditions like vascular dementia and unspecified mental disorders, indicating the gene influences brain health outside of the postpartum period.
Finally, the researchers compared their list of genetic risk factors for postpartum psychosis against genes known to cause other illnesses. They found that a substantial percentage of the top risk genes for bipolar disorder and schizophrenia were also linked to postpartum psychosis. Additionally, they noted a genetic overlap with autoimmune diseases like rheumatoid arthritis, myasthenia gravis, and Crohn’s disease, with HMGCR appearing as a top risk gene for both schizophrenia and rheumatoid arthritis.
“The results were largely consistent with what genetic studies of related psychiatric disorders would predict,” Mahjani said.
There are a few things to keep in mind regarding this study. First, definitions of postpartum psychosis can vary across different medical records. The registry data used in the study often lacked the precise end dates of episodes, which makes it harder to classify the exact duration of the illness.
The researchers also did not separate women whose postpartum psychosis was their very first psychiatric episode from those who had a pre-existing condition, such as bipolar disorder. As a result, some of the genetic patterns they found might reflect severe mental illness in general rather than factors entirely unique to the postpartum period.
Additionally, the genetic sequencing data relied heavily on individuals of European ancestry, meaning the results might not fully capture the genetic risk factors present in other populations. Future studies with more diverse groups will help provide a more complete picture of the condition’s genetic roots.
“Our immediate priority is to replicate these findings in larger samples,” Mahjani said of the team’s next steps. “Beyond that, we want to understand how the genes we identified actually function in the disorder, and how genetic vulnerability interacts with the hormonal and immune changes that occur during and after pregnancy.”
“Mainly that postpartum psychosis has been remarkably understudied relative to its severity,” he concluded. “Progress will depend on continued access to the kind of large-scale genomic resources that made this work possible, such as the All of Us Research Program, and on studies large enough to identify additional risk genes with confidence.”
The study, “Genetic architecture of postpartum psychosis: from common to rare genetic variation,” was authored by Seulgi Jung, Madison Caballero, Adrianna Kępińska, Shelby Smout, Trine Munk-Olsen, Thalia K. Robakis, Veerle Bergink, and Behrang Mahjani.
-------------------------------------------------
Private, vetted email list for mental health professionals: https://www.clinicians-exchange.org
Unofficial Psychology Today Xitter to toot feed at Psych Today Unofficial Bot @PTUnofficialBot
-------------------------------------------------
#psychology #counseling #socialwork #psychotherapy @psychotherapist @psychotherapists @psychology @socialpsych @socialwork @psychiatry #mentalhealth #psychiatry #healthcare #depression #psychotherapist #PostpartumPsychosis #GeneticRisk #MentalHealthResearch #HMGCR #DNMT1 #CholesterolGenes #SchizophreniaOverlap #BipolarDisorder #AutoimmuneLinks #GenomicsStudy
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DATE: September 5, 2026 at 06:00AM
SOURCE: PSYPOST.ORG** Research quality varies widely from fantastic to small exploratory studies. Please check research methods when conclusions are very important to you. **
-------------------------------------------------TITLE: Over half the risk for postpartum psychosis is tied to genetics, large study finds
New research published in Molecular Psychiatry indicates that postpartum psychosis is heavily influenced by both common and rare genetic factors, with about half of the risk tied to genetics. The study also identified a specific gene involved in cholesterol production that provides evidence for shared biological pathways between postpartum psychosis, schizophrenia, and certain autoimmune conditions.
Postpartum psychosis is a rare but severe mental health emergency that occurs in roughly 1 to 2 out of every 1,000 mothers shortly after childbirth. It involves an abrupt onset of symptoms like mania, severe depression, confusion, and psychosis, which is when a person loses touch with reality through hallucinations or delusions. The condition poses heavy risks to both the mother and the infant, often requiring immediate medical hospitalization.
Earlier research established that this vulnerability has deep biological roots. A 2001 study showed that the tendency to experience a severe psychotic episode triggered specifically by childbirth runs strongly in families. Moving beyond familial history, a 2013 study discovered that women experiencing their first episode of postpartum psychosis show disruptions in their immune systems.
Alongside these immune factors, metabolic changes have also been implicated, as a 2017 meta-analysis suggested that people going through their first psychotic episode tend to have altered cholesterol levels. These findings paved the way for large-scale genetic sequencing to pinpoint the exact genes and shared biological pathways involved. To build on these insights, researchers led by Seulgi Jung and study co-author Behrang Mahjani, an assistant professor at the Icahn School of Medicine at Mount Sinai who directs the Mahjani Lab, aimed to detail the specific genetic architecture of postpartum psychosis.
“Postpartum psychosis is a severe but understudied psychiatric disorder,” Mahjani told PsyPost. “Our previous study showed that sisters of women with postpartum psychosis have a markedly elevated risk, but its heritability had not been quantified and no specific risk genes had been identified. We therefore examined the contribution of both common and rare genetic variation to the disorder.”
The researchers first used data from Swedish national registers to estimate the overall genetic risk of the disorder. They examined health records from over 1.6 million mothers who gave birth to their first child between 1980 and 2017. Among this massive group, 2,514 mothers, or 0.15 percent, developed postpartum psychosis.
By tracking the health records of the mothers’ sisters and cousins, the researchers estimated the heritability of postpartum psychosis to be 55 percent. This indicates that more than half of the variation in who develops the condition can be attributed to genetic factors, a rate similar to that of bipolar disorder.
“The genetic contribution is substantial,” Mahjani explained. “Heritability in this range means that inherited variation accounts for a large share of the differences in vulnerability between individuals, comparable to what is seen for bipolar disorder and schizophrenia.”
“This supports the view that postpartum psychosis reflects an underlying biological vulnerability rather than being simply a psychological reaction to the stress of childbirth,” he added.
To see how much of this heritability comes from common genetic variations, the team turned to the All of Us Research Program, a large national database of genetic and health information. They focused on whole-genome sequencing data from 198 mothers of European ancestry who had experienced postpartum psychosis, comparing them to 2,013 matched controls.
The team found that common genetic variants explained about 45.6 percent of the risk for postpartum psychosis. Because this is slightly lower than the 55 percent heritability estimated from family histories, it suggests that rarer genetic variations also play a role in the disorder.
The researchers then looked closely at rare genetic changes, specifically focusing on protein-truncating variants. These are severe mutations that essentially break a gene, preventing it from producing a functional protein. They analyzed a larger sample of 461 cases of postpartum psychosis and 4,610 unaffected controls.
Women with postpartum psychosis had an unusually high number of these disruptive mutations in genes that are generally highly constrained, meaning the genes do not usually tolerate mutations well without causing major biological problems. Based on these mutation patterns, the researchers estimated that there are around 81 specific genes that contribute to the risk of postpartum psychosis.
When analyzing which individual genes were most affected, the gene HMGCR stood out strongly. This gene contains the instructions for making a key enzyme that controls how the body produces cholesterol. A second gene, DNMT1, which helps maintain how DNA is regulated and read by the body, also showed a possible, though less certain, link to the disorder.
“The rare variants in HMGCR have large effects in the people who carry them, which is what allowed us to detect the gene despite a relatively modest sample,” Mahjani noted.
However, he cautioned against oversimplifying this connection. “HMGCR should not be read as ‘the postpartum psychosis gene,'” he said. “It is one of the many genes contributing to risk, and like other severe psychiatric disorders the condition is highly polygenic.”
To explore the broader impact of these genes, the researchers checked for mutations in HMGCR and DNMT1 across hundreds of thousands of individuals in two large medical biobanks. They found that rare mutations in HMGCR were also linked to conditions like vascular dementia and unspecified mental disorders, indicating the gene influences brain health outside of the postpartum period.
Finally, the researchers compared their list of genetic risk factors for postpartum psychosis against genes known to cause other illnesses. They found that a substantial percentage of the top risk genes for bipolar disorder and schizophrenia were also linked to postpartum psychosis. Additionally, they noted a genetic overlap with autoimmune diseases like rheumatoid arthritis, myasthenia gravis, and Crohn’s disease, with HMGCR appearing as a top risk gene for both schizophrenia and rheumatoid arthritis.
“The results were largely consistent with what genetic studies of related psychiatric disorders would predict,” Mahjani said.
There are a few things to keep in mind regarding this study. First, definitions of postpartum psychosis can vary across different medical records. The registry data used in the study often lacked the precise end dates of episodes, which makes it harder to classify the exact duration of the illness.
The researchers also did not separate women whose postpartum psychosis was their very first psychiatric episode from those who had a pre-existing condition, such as bipolar disorder. As a result, some of the genetic patterns they found might reflect severe mental illness in general rather than factors entirely unique to the postpartum period.
Additionally, the genetic sequencing data relied heavily on individuals of European ancestry, meaning the results might not fully capture the genetic risk factors present in other populations. Future studies with more diverse groups will help provide a more complete picture of the condition’s genetic roots.
“Our immediate priority is to replicate these findings in larger samples,” Mahjani said of the team’s next steps. “Beyond that, we want to understand how the genes we identified actually function in the disorder, and how genetic vulnerability interacts with the hormonal and immune changes that occur during and after pregnancy.”
“Mainly that postpartum psychosis has been remarkably understudied relative to its severity,” he concluded. “Progress will depend on continued access to the kind of large-scale genomic resources that made this work possible, such as the All of Us Research Program, and on studies large enough to identify additional risk genes with confidence.”
The study, “Genetic architecture of postpartum psychosis: from common to rare genetic variation,” was authored by Seulgi Jung, Madison Caballero, Adrianna Kępińska, Shelby Smout, Trine Munk-Olsen, Thalia K. Robakis, Veerle Bergink, and Behrang Mahjani.
-------------------------------------------------
Private, vetted email list for mental health professionals: https://www.clinicians-exchange.org
Unofficial Psychology Today Xitter to toot feed at Psych Today Unofficial Bot @PTUnofficialBot
-------------------------------------------------
#psychology #counseling #socialwork #psychotherapy @psychotherapist @psychotherapists @psychology @socialpsych @socialwork @psychiatry #mentalhealth #psychiatry #healthcare #depression #psychotherapist #PostpartumPsychosis #GeneticRisk #MentalHealthResearch #HMGCR #DNMT1 #CholesterolGenes #SchizophreniaOverlap #BipolarDisorder #AutoimmuneLinks #GenomicsStudy
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DATE: September 5, 2026 at 06:00AM
SOURCE: PSYPOST.ORG** Research quality varies widely from fantastic to small exploratory studies. Please check research methods when conclusions are very important to you. **
-------------------------------------------------TITLE: Over half the risk for postpartum psychosis is tied to genetics, large study finds
New research published in Molecular Psychiatry indicates that postpartum psychosis is heavily influenced by both common and rare genetic factors, with about half of the risk tied to genetics. The study also identified a specific gene involved in cholesterol production that provides evidence for shared biological pathways between postpartum psychosis, schizophrenia, and certain autoimmune conditions.
Postpartum psychosis is a rare but severe mental health emergency that occurs in roughly 1 to 2 out of every 1,000 mothers shortly after childbirth. It involves an abrupt onset of symptoms like mania, severe depression, confusion, and psychosis, which is when a person loses touch with reality through hallucinations or delusions. The condition poses heavy risks to both the mother and the infant, often requiring immediate medical hospitalization.
Earlier research established that this vulnerability has deep biological roots. A 2001 study showed that the tendency to experience a severe psychotic episode triggered specifically by childbirth runs strongly in families. Moving beyond familial history, a 2013 study discovered that women experiencing their first episode of postpartum psychosis show disruptions in their immune systems.
Alongside these immune factors, metabolic changes have also been implicated, as a 2017 meta-analysis suggested that people going through their first psychotic episode tend to have altered cholesterol levels. These findings paved the way for large-scale genetic sequencing to pinpoint the exact genes and shared biological pathways involved. To build on these insights, researchers led by Seulgi Jung and study co-author Behrang Mahjani, an assistant professor at the Icahn School of Medicine at Mount Sinai who directs the Mahjani Lab, aimed to detail the specific genetic architecture of postpartum psychosis.
“Postpartum psychosis is a severe but understudied psychiatric disorder,” Mahjani told PsyPost. “Our previous study showed that sisters of women with postpartum psychosis have a markedly elevated risk, but its heritability had not been quantified and no specific risk genes had been identified. We therefore examined the contribution of both common and rare genetic variation to the disorder.”
The researchers first used data from Swedish national registers to estimate the overall genetic risk of the disorder. They examined health records from over 1.6 million mothers who gave birth to their first child between 1980 and 2017. Among this massive group, 2,514 mothers, or 0.15 percent, developed postpartum psychosis.
By tracking the health records of the mothers’ sisters and cousins, the researchers estimated the heritability of postpartum psychosis to be 55 percent. This indicates that more than half of the variation in who develops the condition can be attributed to genetic factors, a rate similar to that of bipolar disorder.
“The genetic contribution is substantial,” Mahjani explained. “Heritability in this range means that inherited variation accounts for a large share of the differences in vulnerability between individuals, comparable to what is seen for bipolar disorder and schizophrenia.”
“This supports the view that postpartum psychosis reflects an underlying biological vulnerability rather than being simply a psychological reaction to the stress of childbirth,” he added.
To see how much of this heritability comes from common genetic variations, the team turned to the All of Us Research Program, a large national database of genetic and health information. They focused on whole-genome sequencing data from 198 mothers of European ancestry who had experienced postpartum psychosis, comparing them to 2,013 matched controls.
The team found that common genetic variants explained about 45.6 percent of the risk for postpartum psychosis. Because this is slightly lower than the 55 percent heritability estimated from family histories, it suggests that rarer genetic variations also play a role in the disorder.
The researchers then looked closely at rare genetic changes, specifically focusing on protein-truncating variants. These are severe mutations that essentially break a gene, preventing it from producing a functional protein. They analyzed a larger sample of 461 cases of postpartum psychosis and 4,610 unaffected controls.
Women with postpartum psychosis had an unusually high number of these disruptive mutations in genes that are generally highly constrained, meaning the genes do not usually tolerate mutations well without causing major biological problems. Based on these mutation patterns, the researchers estimated that there are around 81 specific genes that contribute to the risk of postpartum psychosis.
When analyzing which individual genes were most affected, the gene HMGCR stood out strongly. This gene contains the instructions for making a key enzyme that controls how the body produces cholesterol. A second gene, DNMT1, which helps maintain how DNA is regulated and read by the body, also showed a possible, though less certain, link to the disorder.
“The rare variants in HMGCR have large effects in the people who carry them, which is what allowed us to detect the gene despite a relatively modest sample,” Mahjani noted.
However, he cautioned against oversimplifying this connection. “HMGCR should not be read as ‘the postpartum psychosis gene,'” he said. “It is one of the many genes contributing to risk, and like other severe psychiatric disorders the condition is highly polygenic.”
To explore the broader impact of these genes, the researchers checked for mutations in HMGCR and DNMT1 across hundreds of thousands of individuals in two large medical biobanks. They found that rare mutations in HMGCR were also linked to conditions like vascular dementia and unspecified mental disorders, indicating the gene influences brain health outside of the postpartum period.
Finally, the researchers compared their list of genetic risk factors for postpartum psychosis against genes known to cause other illnesses. They found that a substantial percentage of the top risk genes for bipolar disorder and schizophrenia were also linked to postpartum psychosis. Additionally, they noted a genetic overlap with autoimmune diseases like rheumatoid arthritis, myasthenia gravis, and Crohn’s disease, with HMGCR appearing as a top risk gene for both schizophrenia and rheumatoid arthritis.
“The results were largely consistent with what genetic studies of related psychiatric disorders would predict,” Mahjani said.
There are a few things to keep in mind regarding this study. First, definitions of postpartum psychosis can vary across different medical records. The registry data used in the study often lacked the precise end dates of episodes, which makes it harder to classify the exact duration of the illness.
The researchers also did not separate women whose postpartum psychosis was their very first psychiatric episode from those who had a pre-existing condition, such as bipolar disorder. As a result, some of the genetic patterns they found might reflect severe mental illness in general rather than factors entirely unique to the postpartum period.
Additionally, the genetic sequencing data relied heavily on individuals of European ancestry, meaning the results might not fully capture the genetic risk factors present in other populations. Future studies with more diverse groups will help provide a more complete picture of the condition’s genetic roots.
“Our immediate priority is to replicate these findings in larger samples,” Mahjani said of the team’s next steps. “Beyond that, we want to understand how the genes we identified actually function in the disorder, and how genetic vulnerability interacts with the hormonal and immune changes that occur during and after pregnancy.”
“Mainly that postpartum psychosis has been remarkably understudied relative to its severity,” he concluded. “Progress will depend on continued access to the kind of large-scale genomic resources that made this work possible, such as the All of Us Research Program, and on studies large enough to identify additional risk genes with confidence.”
The study, “Genetic architecture of postpartum psychosis: from common to rare genetic variation,” was authored by Seulgi Jung, Madison Caballero, Adrianna Kępińska, Shelby Smout, Trine Munk-Olsen, Thalia K. Robakis, Veerle Bergink, and Behrang Mahjani.
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DATE: July 16, 2026 at 02:00PM
SOURCE: PSYPOST.ORG** Research quality varies widely from fantastic to small exploratory studies. Please check research methods when conclusions are very important to you. **
-------------------------------------------------TITLE: Genetic risk for cannabis use disorder linked to brain differences in youth
URL: https://www.psypost.org/genetic-risk-for-cannabis-use-disorder-linked-to-brain-differences-in-youth/
A person’s genetic risk for developing a cannabis addiction is associated with structural brain differences during adolescence, even in individuals who have never struggled with substance abuse. The finding indicates that some brain variations previously attributed to marijuana use might partly originate from an inherited biological predisposition. The study was published in the Journal of Psychopharmacology.
Bipolar disorder is a severe mental health condition characterized by dramatic shifts in mood, energy, and activity levels. People with the condition experience intense emotional states known as mood episodes, which can include periods of extreme elation or irritability, known as mania, and periods of deep sadness, known as depression. The condition often emerges during the teenage years and is a leading cause of functional disability among youth globally.
Teenagers with bipolar disorder frequently face additional psychiatric challenges throughout their schooling and home lives. Research shows that about 30 percent of youth diagnosed with bipolar disorder also have a co-occurring substance use disorder. Cannabis use disorder ranks as the most common addiction in this specific clinical group. Youth with bipolar disorder use cannabis at higher rates than the general population and face an elevated risk of developing a long-term dependency on the drug.
Heavy cannabis use has been repeatedly linked to worse outcomes for individuals with bipolar disorder. These negative impacts include a higher risk of suicide, a delayed recovery process, and an increased likelihood of experiencing psychosis. Past brain imaging studies have also noted structural differences in the brains of teenagers who regularly consume cannabis, both with and without mood disorders. The exact nature of these differences has varied across different observational reports.
Some research points to larger gray matter volume in certain brain regions among users, while other reports document smaller volumes in those same areas. Because most of these studies observe people at a single point in time, it is difficult to determine whether cannabis changes the brain or if people with preexisting brain differences are simply more likely to use the drug. To separate cause from effect in these brain measurements, scientists sometimes examine genetics. Addiction involves inherited physical traits, and modern genetic testing allows researchers to measure a person’s underlying vulnerability to an addiction before it ever develops.
Scientists do this using an advanced mathematical tool called a polygenic risk score. Unlike older tests that look for a single faulty gene, a polygenic risk score tallies up thousands of tiny genetic variations across a person’s entire DNA sequence. By comparing these variations against data from people who have a condition, researchers can calculate a customized score that estimates an individual’s overall genetic likelihood of developing that specific problem. Alysha Sultan, a researcher at the Centre for Addiction and Mental Health in Toronto, recognized an opportunity to apply this genetics tool to brain imaging.
Sultan and her colleagues set out to discover if a high polygenic risk score for cannabis use disorder correlated with brain structure in youths, regardless of their developmental history of drug use. The researchers recruited 114 teenagers and young adults between the ages of 13 and 20. The sample included 67 youths who had been diagnosed with bipolar disorder at a specialty psychiatric clinic. The remaining 47 participants were healthy controls randomly recruited from the community who had no personal or family history of major psychiatric disorders.
The team asked all participants to provide a saliva sample. From this saliva, the scientists extracted DNA and scanned the genetic sequences to calculate a specific polygenic risk score for cannabis use disorder for every participant. To create the scoring baseline, they relied on data from a preexisting study of adults that mapped the genetic profiles of tens of thousands of people with a diagnosed cannabis dependency.
After collecting the genetic data, the researchers brought the participants in for brain imaging. They used a magnetic resonance imaging machine, commonly known as an MRI, to capture high-resolution pictures of the participants’ brains. The team focused on the cerebral cortex, the folded outer layer of the brain that manages complex thought, memory, and perception.
The researchers measured three specific physical traits of the cerebral cortex: volume, surface area, and thickness. Volume refers to the total amount of space a specific brain region takes up, while surface area measures the expanse of the folded outer layer. Thickness gauges the physical depth of the gray matter on that layer. The scientists wrote statistical models to compare these structural measurements against the participants’ genetic risk scores, accounting for variables like age, sex, and overall head size.
The neuroimaging data revealed a consistent physical pattern. Across the entire group of youths, a higher genetic risk score for cannabis use disorder matched up with localized reductions in brain size. The researchers observed lower total volume and lower surface area in a brain region called the right superior frontal gyrus. Located near the very top and front of the brain, the superior frontal gyrus is involved in higher cognitive functions such as spatial processing and working memory, which is the ability to hold and manipulate information in the mind over short periods.
The researchers also noticed a smaller surface area in a region called the left paracentral lobule. This area rests near the top center of the brain and helps process sensory information from the body. These results were evident regardless of whether the youths had bipolar disorder or whether they had ever tried cannabis. The researchers ran specialized tests that completely excluded the participants who currently or previously had a cannabis use disorder, and the structural differences remained.
When the team split the participants by diagnosis, they found similar patterns among the healthy volunteers. Healthy teenagers with a higher genetic risk for the addiction exhibited lower brain volume and surface area in both the left and the right superior frontal gyrus.
The results among the participants diagnosed with bipolar disorder were not statistically significant when analyzed on their own. The researchers suspect this outcome relates to the vast biological complexities associated with bipolar disorder itself. The youths with the condition had high rates of anxiety and attention difficulties, took various psychiatric medications, and reported different medical histories. These competing factors may alter brain structure in their own localized ways, creating statistical noise in the data that masks the subtler differences linked strictly to the cannabis risk genes.
Sultan and her colleagues pointed out a few constraints to their investigation. Addiction involves similar genetic pathways across different types of substances, meaning people with a genetic liability for cannabis use disorder often share a generalized genetic vulnerability to alcohol or nicotine. The risk scores used in the study might reflect a broader tendency toward behavioral disinhibition rather than a strict vulnerability to cannabis alone. The genetic baselines used in the study also relied on data from individuals of European ancestry, meaning the relationships might differ for people of other ethnic backgrounds.
The initial findings offer a new way to interpret past neuroimaging research. Because a genetic predisposition alone corresponds with smaller frontal brain regions, some of the brain differences previously blamed on teen marijuana use might have existed before the drug use began. The scientists suggest that longer studies following the same teenagers into adulthood could help explain how inherited vulnerabilities shape the growing brain over time.
The study, “Association of polygenic risk for cannabis use disorder with brain structure among youth with and without bipolar disorder,” was authored by Alysha A. Sultan, Clement C. Zai, Kody G. Kennedy, L. Trevor Young, Bradley J. MacIntosh, and Benjamin I. Goldstein.
URL: https://www.psypost.org/genetic-risk-for-cannabis-use-disorder-linked-to-brain-differences-in-youth/
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