The study was led by the Bipolar Disorder Working Group at the Psychiatric Genomics Consortium, an international group made up of more than 800 researchers from 40 countries in which professionals from IDIBAPS-Hospital Clínic and Hospital Vall d’Hebron participate, all of them researchers from CIBER de Salud Mental (CIBERSAM).
A disorder with a high genetic component
Bipolar disorder is a chronic mental disorder that affects between 40 and 50 million people worldwide and is characterised by the alternation of depressive episodes and episodes of mania or hypomania (euphoric or irritable moods). It can have a profound impact on daily life if not treated properly and poses a significant public health problem.
It has a substantial genetic basis, with an estimated heritability of between 60% and 80%. However, identifying the specific genes involved in this disorder has been a great challenge due to its complexity, as it combines genetic and environmental factors.
Genetic characterisation of bipolar disorder
The international group conducted a meta-analysis of several genome-wide association studies, combining their results to more accurately identify the genetic variants associated with a disease or a trait. In total, more than 158,000 patients with bipolar disorder and 2.8 million people without the disorder were included and the genes of the two groups were compared to decipher the existing differences. The most important feature is that people from all six inhabitable continents were included for the first time.
The study identified 337 variants of genome-wide significance (GWS) that are mutually independent and grouped into 298 specific regions of the genome (loci). This identification is four times larger than that of any previous study. These genetic variants are related to the causes of the disorder, as well as to brain plasticity and signal transmission.
By combining the results of advanced genetic mapping techniques, like fine-mapping and other strategies to link genetic variants with specific genes, the researchers identified 36 reliable genes related to the causes or development of bipolar disorder.
The researchers also found genetic differences, depending on the patients’ subtype of bipolar disorder. For instance, they found a greater genetic relationship with schizophrenia in the cohorts with a large proportion of patients with type 1 bipolar disorder. In the cohort with more cases of patients with type 2 bipolar disorder, they detected a greater genetic correlation with major depressive disorder and attention deficit hyperactivity disorder (ADHD).
‘With this study, we have taken a big step forward to better understand how this disorder functions and what causes it. Given a little more time, we also hope to develop new and better treatments for it’, says Dr Eduard Vieta, the head of Hospital Clínic’s Psychiatry Service and of the IDIBAPS research group Bipolar and depressive disorders.
Study reference:
Characterising the genetic landscape of bipolar disorder yields novel biological insights. Nature. DOI: https://www.nature.com/articles/s41586-024-08468-9
Researchers have recently made a breakthrough in understanding bipolar disorder by identifying 36 genes that are related to the onset and development of the disorder. This discovery sheds light on the complex genetic factors that contribute to bipolar disorder and may lead to new avenues for treatment and management.
Bipolar disorder is a mental health condition characterized by extreme mood swings, ranging from manic episodes of high energy and euphoria to depressive episodes of sadness and hopelessness. It affects millions of people worldwide and can have a significant impact on daily functioning and quality of life.
By pinpointing these 36 genes, researchers have taken a crucial step towards unraveling the genetic basis of bipolar disorder. Understanding the role of these genes in the development of the disorder could help identify individuals at risk, improve early detection, and ultimately lead to more targeted and effective treatments.
This groundbreaking research opens up new possibilities for personalized medicine and precision psychiatry in the treatment of bipolar disorder. As scientists continue to delve deeper into the genetic underpinnings of mental health conditions, we are one step closer to developing more tailored and effective interventions for those living with bipolar disorder.
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