For Immediate Release: Wednesday, October 21, 2026, 2:30 p.m. U.S. Eastern Time
Media Contact: Evelyn Mantegani, +1 240-833-2014, [email protected]
Presented By: Moeen Riaz, MS PhD, Regeneron Genetics Center
People of South Asian descent develop type 2 diabetes at approximately four times the rate of people with European descent, often at younger ages and lower body mass index. Yet they account for fewer than 5% of participants in large genomic studies. The largest exome-wide association study of type 2 diabetes in people of South Asian ancestry to date has now identified a population-enriched genetic variant that may help protect against the disease.
Researchers from Regeneron Genetics Center® (RGC®) analyzed protein-coding genetic variation in 132,045 participants from five South Asian cohorts, including 32,752 people with type 2 diabetes and 99,293 controls. Analyses identified risk or protective associations involving several diabetes-related genes, including HNF4A, MAP3K15, and WFS1.
A missense variant in WFS1, called p.Glu794Lys, was associated with a 44% lower likelihood of type 2 diabetes. The variant is approximately 300 times more frequent in South Asians than in Europeans and also showed suggestive associations with lower blood glucose and HbA1C, a measure of average blood sugar.
WFS1 encodes wolframin, a protein involved in cellular stress regulation, calcium transfer, and pancreatic beta-cell function. The direction of the association suggests that p.Glu794Lys may increase WFS1 activity and help protect insulin-producing beta cells. However, functional studies are needed to establish the variant’s biological effects, and the findings do not yet support clinical testing or treatment.
The results provide initial human genetic evidence that activating the WFS1 pathway could offer a new therapeutic strategy for type 2 diabetes. They also demonstrate how studying populations that are underrepresented in genomics can uncover protective variants and treatment hypotheses that might otherwise be missed.
About the American Society of Human Genetics (ASHG)
The American Society of Human Genetics (ASHG) is the leading global organization advancing the science of human genetics and genomics. Representing nearly 8,000 researchers, clinicians, genetic counselors, educators, and other professionals, ASHG drives progress in understanding the human genome and its role in health and disease. The Society fosters innovation and collaboration through its flagship events and publications—including the ASHG Annual Meeting and its peer-reviewed journals The American Journal of Human Genetics and Human Genetics and Genomics Advances. ASHG also champions science advocacy, supports the next generation of genetics professionals, and promotes responsible policies and public engagement in genetics. Learn more at www.ashg.org.
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