Borderline Personality Disorder (BPD) affects around 2% of the population in Western countries. It usually begins during adolescence and is diagnosed about three times more often in women than in men. The disorder is characterised by persistent instability in emotions, relationships and self-image, and is often linked to self-harming behaviours and a high risk of suicide. Despite its severity, there is currently no medication specifically approved to treat BPD, and its biological basis remains poorly understood.
Now, an international research consortium, with the participation of Hospital Universitari Institut Pere Mata (HUIPM) and the Institut de Recerca Biomèdica Catalunya Sud (IRB CatSud), has identified for the first time regions of the genome that are consistently associated with the disorder. Published in Nature Genetics, the study is the largest genetic analysis of BPD carried out to date and the first study of its kind on a personality disorder to produce conclusive results.
The research combined data from 27 clinical studies, biobanks and population cohorts from 14 countries. The project was coordinated by the Central Institute of Mental Health in Mannheim, Germany, within the framework of the Psychiatric Genomics Consortium. The Genetics and Environment in Psychiatry (GAP) research group, a joint initiative of HUIPM, IRB CatSud, Universitat Rovira i Virgili (URV) and CIBERSAM, contributed one of the two independent cohorts used to confirm the results obtained in the main analysis. Other CIBERSAM groups also took part, including teams from Hospital de la Santa Creu i Sant Pau and Hospital Universitari Vall d’Hebron.
The study identified a total of 11 regions of the genome and nine genes that may contribute to the development of the disorder. It also estimates that the common genetic variants analysed account for around 17% of susceptibility to BPD. These findings confirm that the disorder has a polygenic architecture, meaning that it results from the combined effect of many genetic variants, each with a small impact, similar to what has been observed in schizophrenia, depression and bipolar disorder.
The analysis also shows that the genetic risk linked to BPD overlaps considerably with that of other mental health conditions, particularly post-traumatic stress disorder, depression and attention-deficit/hyperactivity disorder (ADHD). Similar links were found with antisocial behaviour and measures related to suicide and self-harm. In addition, the study identified connections with physical health conditions such as chronic obstructive pulmonary disease (COPD), type 2 diabetes, obesity and hypertension. This finding is particularly important because a significant part of the reduced life expectancy observed in people with BPD is related to physical health problems. It also highlights the need for healthcare approaches that consider the individual’s overall health.
According to Elisabet Vilella, head of the Genetics and Environment in Psychiatry (GAP) research group, “these results show that BPD has a biological basis comparable to that of other severe mental disorders. This evidence should help reduce the stigma that still affects people living with the disorder and their families.”
The authors compare these findings to the early genetic studies of schizophrenia conducted around fifteen years ago, which initially identified only a few genomic regions before larger international collaborations and expanded sample sizes led to many more discoveries. They also point out two important limitations. First, all the samples analysed were of European ancestry, highlighting the need to extend research to more diverse populations. Second, the genetic risk scores derived from the study are research tools and cannot be used to predict an individual’s risk or to make clinical diagnoses. The data have been made available to the scientific community to support future studies and, in the long term, contribute to the development of new treatments.
Article reference
Streit, F., Awasthi, S., Hall, A. S. M., et al. Genome-wide association analyses of borderline personality disorder identify 11 loci and highlight shared risk with mental and somatic disorders. Nature Genetics (2026). Published 20 July 2026.
Genetic variants that favour higher fertility may have been maintained throughout human evolution even though they also increase the risk of disease and are linked to a shorter life expectancy. This is the main conclusion of a study that helps explain why natural selection has not eliminated many genetic variants linked to common diseases.
The work, led by the Institute of Evolutionary Biology (IBE, CSIC-Pompeu Fabra University) with the participation of Hospital Universitari Institut Pere Mata, the Southern Catalonia Biomedical Research Institute (IRB CatSud) and the Barcelonaβeta Brain Research Center (BBRC), has been published in the scientific journal Nature Ecology & Evolution. The research analysed large-scale genomic data to study the relationship between fertility, longevity and genetic predisposition to 62 diseases.
The results indicate that natural selection tends to maximise fertility during reproductive age. For this reason, it can favour genetic variants that increase reproductive success, even if these same variants carry a higher risk of developing diseases or reduced longevity in later stages of life.
“The results help us understand why natural selection has not eliminated many variants associated with common diseases that have a major impact on health”, explains Dr Arcadi Navarro, director of the Barcelonaβeta Brain Research Center, group leader of the Genomics Research Group and principal investigator at the IBE (CSIC-UPF). “Some of these variants may have been favoured because they increased our ancestors’ reproductive success, even if this entailed a cost to health or lower life expectancy later on”, also adds the professor and ICREA researcher at the UPF, and corresponding co-author of the study.
Researchers have observed that genetic variants simultaneously associated with higher fertility and a higher risk of disease show clear signs of having been favoured by natural selection. This pattern is observed both in recent periods and on evolutionary scales spanning the last 50,000 years.
The data therefore suggest that, from an evolutionary point of view, the reproductive advantages associated with some genetic variants may have offset their detrimental effects on future health. On average, alleles—the different variants of a gene—linked to a higher risk of disease are also associated with greater fertility and reduced longevity.
Analysis at the individual level shows that, among people with a higher genetic risk of developing diseases, there are differences depending on whether the disease appears in childhood (such as autism) or in adulthood (such as glaucoma).
During the childbearing years, those with a high genetic risk who do not go on to develop the disease tend to have more children. In contrast, when the disease appears in adulthood, the opposite is true: the people who end up developing the disease are also the ones who have had the most children. “This is because falling ill at a young age, during the childbearing years, carries a high reproductive cost; in contrast, when the disease appears in adulthood, this cost is lower, because by that time most people have already had children,” explains Eva Brigos Barril, a predoctoral researcher at the IBE (CSIC-UPF) and the study’s first author.
This does not mean that late-onset diseases increase fertility, but rather that some of the genetic variants that increase the risk could also have aided reproductive success during youth.
A new evolutionary perspective on human health
The research falls within the life-history theory, which studies how organisms distribute limited resources between functions such as growth, reproduction and maintenance of the organism.
“One of the major questions in genetics is why variants that increase the risk of developing a disease continue to exist. Our work provides evidence that, in some cases, these variants also confer reproductive advantages”, highlights Dr Gerard Muntané, a researcher at the Pere Mata Institute (IRBCatSud) and a collaborating researcher and professor at Pompeu Fabra University.
In this context, the antagonistic pleiotropy theory suggests that the same genetic variant can have beneficial effects at one stage of life and detrimental effects at another. For example, a variant can aid reproduction during youth and, at the same time, increase the risk of developing a disease during old age.
The new study provides the largest genomic analysis to test this hypothesis in humans to date. The results reinforce the idea that natural selection prioritizes effects that occur before or during the reproductive age but has a lesser capacity to eliminate variants that cause harmful consequences at later stages.
This perspective helps answer one of the big questions in human evolutionary genetics: why genetic variants that increase the risk of suffering from common diseases and have a significant cost to health continue to exist on such a massive scale.
According to the results, the answer lies, at least in part, in the fact that some of these variants also provided reproductive advantages. Therefore, their persistence would not be an evolutionary anomaly, but the result of a balance between the benefits during the reproductive age and the costs that appear later.
Reference article: Brigos-Barril E, Vasallo C, Farré X, et al. Genetic trade-offs in fertility and longevity explain the maintenance of disease-associated alleles in humans. Nature Ecology & Evolution (2026).DOI: 10.1038/s41559-026-03140-z.
Around sixty researchers from all over the country, from both basic and clinical research fields, have participated in the first national conference on genetics in psychiatry, held in Reus this Wednesday and organized by the Hospital Universitari Institut Pere Mata (HUIPM) and the Institut de Recerca Biomèdica Catalunya Sud (IRB CatSud), with the participation of the CIBERSAM network (Centro de Investigación Biomédica en Red en Salud Mental). One of the main achievements of the meeting, held at the HUIPM facilities, has been the promotion of a shared proposal to create a stable network or working group in genetics in psychiatry, with a long-term vision and with the aim that it may evolve into a future scientific society.
During the conference, strategic lines were discussed, such as promoting collaborative work, sharing data and knowledge, or creating a repository of genetic data, as well as the need to strengthen the transfer of results to clinical practice and society.
The meeting has represented a turning point in the field of genetics in psychiatry, since until now researchers specialised in the genetics of psychiatric disorders in the country had never met in a specific forum. In recent years, the growth of research in this field and the emergence of results with potential clinical application have favoured the consolidation of a critical mass that has made it possible to promote this initiative.
“It is the first conference held by specialist researchers in genetics of psychiatric diseases, and the reason is that it is a relatively innovative field. Over the years, the researchers we met at conferences said we had to do something together and, at the end of last October, at an international psychiatric genetics conference in Mexico, we decided to do it and chose to hold the first conference in Reus,” said the research director of HUIPM and deputy director of IRB CatSud, Elisabet Vilella.
At the conference, the different participating teams also shared their lines of work and presented the latest advances in genetics in psychiatry, with the aim of generating synergies and exploring new ways of collaboration. “Our group presented work related to the development and characterisation of neuronal lines from patients with first psychotic episodes, where we look for biological signals to help find the best diagnosis so that there can be the most personalised treatment possible, for example in the development of schizophrenia,” explained the researcher from the Instituto de Investigación Sanitaria de Valencia (INCLIVA), Ricardo Ruiz Miguel, one of the speakers at the conference.
The organisers also highlighted that initiatives like this help to accelerate the transfer of scientific knowledge into real applications and to promote collaboration between research groups, also incorporating work with patient associations as one of the key axes for the future.
With this first edition, the conference has laid the foundations to become a regular reference meeting at the national level, with the intention of continuing to strengthen scientific cooperation and to increase the impact of research in mental health for the benefit of society.
▪ This is the first event of this kind in Spain and it will be held on 17 June at the Pere Mata University Hospital
▪ The national mental health research network, CIBERSAM, is also involved in organising the event
Sharing knowledge, exchanging research lines and promoting new scientific collaborations are the main goals of the first national workshop on genetics in psychiatry. The event will take place at the Pere Mata University Hospital and will bring together research groups from across Spain specialised in the genetics of psychiatric disorders.
The meeting, which will be held on 17 June, will gather highly competitive research groups at an international level. Most of them are part of the CIBERSAM network (Biomedical Research Networking Center in Mental Health), funded by the Carlos III Health Institute, and of the international consortium Psychiatric Genomics Consortium.
The workshop has been designed with a dynamic and participatory format. It will combine short presentations from the different teams, where they will present their structure, objectives and research lines. In addition, there will be workshops aimed at identifying common priorities and opportunities for joint work. The latest advances in genetics in psychiatry achieved by national groups will also be presented.
One of the key elements of the workshop will be the collective development of future proposals, including the possible creation of a stable network or working group on genetics in psychiatry. It will also promote shared initiatives in areas such as translational research and knowledge transfer to clinical practice and society.
Genetics in psychiatry is a field that has experienced a real expansion of knowledge in recent years, driven by advances in genomic technologies and the analysis of large data sets. These developments have made it possible to identify genetic variants associated with disorders such as schizophrenia, bipolar disorder or autism, improving the understanding of their biological basis and opening the door to more precise and personalised strategies for prevention and treatment.
With this first edition, the organisers aim to establish the basis for a regular reference meeting that will help strengthen collaboration between research groups and increase the impact of mental health research. Here, the programme.
