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Biggest study of its kind: How Sex-related genetic differences affect psychology

May 6, 2021

Man and woman sitting across from each other

Psychiatric conditions like schizophrenia, bipolar disorder and depression share genetic commonalities between the sexes, but researchers are on the hunt for important differences. In the largest genome-wide analysis of genes, sex and mood/psychotic disorders to date, researchers report finding noticeable sex-dependent differences in how genes related to the central nervous system, immune system, and blood vessels affect people with these disorders.


For example, the investigators found interactions with schizophrenia and depression and sex in genes controlling for the production of vascular endothelial growth factor, a protein that promotes the growth of new blood vessels, Massachusetts General Hospital reported. These findings could spur better treatment for major psychiatric disorders in the future.

“It turns out that both depression and schizophrenia have a very high co-occurrence with cardiovascular disease,” said senior author Jill M. Goldstein, PhD, founder and executive director of the Innovation Center on Sex Differences in Medicine (ICON) at MGH. “In addition, the co-occurrence of depression and cardiovascular disease is twice as high in women as in men, and this may, in part, be associated with our finding in depression of sex differences in a gene controlling vascular endothelial growth factor.”

Nearly 200,000 subjects analyzed

The findings, published in the journal Biological Psychiatry, involved collaboration among more than 100 investigators and research groups combing through the genomes of more than 33,000 people with schizophrenia, nearly 20,000 with bipolar disorder, more than 32,000 with major depressive disorder, and nearly 110,000 controls (people having none of these diagnoses).

“We’re in the era of Big Data, and we’re looking for genes that are associated with illnesses to identify druggable targets associated with the genotype, in order to develop more effective treatments for that illness that may differ by sex,” says Goldstein.

And sex differences abound in medicine. “There are sex differences in the frequency of chronic diseases and cancers as well. It’s pervasive,” says Goldstein, who is also a professor of Psychiatry and Medicine at Harvard Medical School. “But medicine, essentially, has been built on models of men’s health and male animals. We need to develop our precision medicine models incorporating the effect of sex.”

Biospecimens available for sequencing

The Big Data Goldstein mentions always originates in human biospecimens such as a drop of blood that enables genome sequencing. At iSpecimen, we support research like this through the iSpecimen Marketplace, which enables scientists to procure any number of  biofluids, tissues and cells from patients they specify, including men and women with and without specified psychiatric and cardiovascular diagnoses.

Whether researchers ultimately find similarities or differences between the sexes, we are committed to helping expedite their work by making biospecimen procurement as easy and efficient as possible. It’s an important part of ensuring medical progress advances as quickly as possible.

Learn about the iSpecimen Marketplace where you can browse millions of richly annotated, de-identified human tissue and biofluid biospecimens, in addition to hematopoietic and immune cell products and COVID-19 samples. You can join for free and creating a login is easy. Request a quote or custom collection today.