Genetic variants associated with major depressive disorder have been identified

July 16, 2015 by Bob Yirka, Medical Xpress report

Credit: George Hodan/Public Domain
(Medical Xpress)—A very large team of researchers made up mostly of members in China and calling itself the CONVERGE consortium, has identified two genetic variants that appear to be associated with major depressive disorder (MDD). In their paper published in the journal Nature, the team explains how they conducted their research, the results they found, and what their findings might mean for treating people with the disorder. Patrick Sullivan, with the University of North Carolina offers a News & Views piece on the work done by the team in the same journal issue.

MDD is a uniquely difficult problem—patients report mostly similar symptoms, such as feelings of sadness, lack of emotions all together and lethargy, but science has not been able to find its cause, much less find a cure. One area of study has been genetics, as scientists wonder if perhaps some people are more susceptible due to DNA passed down from their parents. Unfortunately, despite several studies, no genetic link has been found—until now. In this new effort, the team reports that they have found two genetic variants that appear to be tied to people with the most severe form of MDD.

Because of failures in other genetic studies, the researchers with this new effort chose to go a different route; first they started by selecting China as the place, because of the large population and because MDD is not often diagnosed there, which they figured meant, those that due get such a diagnosis are likely severe cases. Next, they restricted study cases to just women of Han Chinese ancestry. They also chose to use low-convergence whole genome sequencing.

The team identified two regions in the genome which appeared to be associated with MDD. The first one was near the SIRT1 gene, the other was in an intron region of the LHPP gene. The first region is possibly the most intriguing Sullivan notes, due to its closeness to the SIRT1 gene—it suggests a possible connection with mitochondria, the part of cells involved in energy production. If that turns out to be the case, this discovery could lead to treatments dedicated to reinvigorating cells at their energy centers.

The discovery by the team is truly groundbreaking, though they suggest that a lot more work still needs to be done with MDD in general to truly understand its cause and then to come up with a better way to treat it.

Explore further: Fertility patients' history is best predictor of risk for major depression

More information: "Sparse whole-genome sequencing identifies two loci for major depressive disorder." Nature (2015) DOI: 10.1038/nature14659

Major depressive disorder (MDD), one of the most frequently encountered forms of mental illness and a leading cause of disability worldwide1, poses a major challenge to genetic analysis. To date, no robustly replicated genetic loci have been identified2, despite analysis of more than 9,000 cases3. Here, using low-coverage whole-genome sequencing of 5,303 Chinese women with recurrent MDD selected to reduce phenotypic heterogeneity, and 5,337 controls screened to exclude MDD, we identified, and subsequently replicated in an independent sample, two loci contributing to risk of MDD on chromosome 10: one near the SIRT1 gene (P = 2.53 × 10−10), the other in an intron of the LHPP gene (P = 6.45 × 10−12). Analysis of 4,509 cases with a severe subtype of MDD, melancholia, yielded an increased genetic signal at the SIRT1 locus. We attribute our success to the recruitment of relatively homogeneous cases with severe illness.

Press release

Related Stories

Fertility patients' history is best predictor of risk for major depression

April 3, 2015
A potent risk factor for developing major depressive disorder (MDD) during fertility treatment is something health providers are likely not even looking for, according to new research from San Francisco State University.

Recurrent major depressive disorder and use of antidepressants associated with lower bone density

June 12, 2015
A recent study from the University of Eastern Finland in collaboration with Deakin University, Australia, shows that recurrent major depressive disorder (MDD) in men is associated with lower bone density. The use of antidepressants ...

Rural African-American women had lower rates of depression, mood disorder

April 8, 2015
African-American women who live in rural areas have lower rates of major depressive disorder (MDD) and mood disorder compared with their urban counterparts, while rural non-Hispanic white women have higher rates for both ...

Adolescent major depression in the National Comorbidity Survey

January 6, 2015
A recent study published in the January 2015 issue of the Journal of the American Academy of Child and Adolescent Psychiatry underscores the important public health significance of depression among U.S. adolescents.

Researchers build a better mouse model to study depression

May 19, 2011
Researchers at the University of Pittsburgh School of Medicine have developed a mouse model of major depressive disorder (MDD) that is based on a rare genetic mutation that appears to cause MDD in the majority of people who ...

What is the best measure of depression severity in adolescents?

March 30, 2015
At present the key symptom for diagnosing major depressive disorder (MDD) in adolescents is irritability. However a new study has found that the severity of anhedonia (the inability to gain pleasure from experiences that ...

Recommended for you

Student develops microfluidics device to help scientists identify early genetic markers of cancer

October 16, 2018
As anyone who has played "Where's Waldo" knows, searching for a single item in a landscape filled with a mélange of characters and objects can be a challenge. Chrissy O'Keefe, a Ph.D. student in the Department of Biomedical ...

Researchers use brain cells in a dish to study genetic origins of schizophrenia

October 16, 2018
A study in Biological Psychiatry has established a new analytical method for investigating the complex genetic origins of mental illnesses using brain cells that are grown in a dish from human embryonic stem cells. Researchers ...

Why heart contractions are weaker in those with hypertrophic cardiomyopathy

October 16, 2018
When a young athlete suddenly dies of a heart attack, chances are high that they suffer from familial hypertrophic cardiomyopathy (HCM). Itis the most common genetic heart disease in the US and affects an estimated 1 in 500 ...

Importance of cell cycle and cellular senescence in the placenta discovered

October 15, 2018
Working with researchers from Stanford University and St. Anna Children's Cancer Research, researchers from Jürgen Pollheimer's laboratory at the Medical University of Vienna's Department of Obstetrics and Gynecology have ...

Team's study reveals hidden lives of medical biomarkers

October 12, 2018
What do medical biomarkers do on evenings and weekends, when they might be considered off the clock?

Researchers find a 'critical need' for whole genome sequencing of young cancer patients

October 12, 2018
St. Jude Children's Research Hospital has re-defined the gold standard for diagnostic testing of childhood cancer patients in the precision-medicine era and has implemented the testing for new cancer patients. The findings ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.