New genetic discoveries help predict risk for type 1, type 2 diabetes

Researchers continue to discover more each year about the genetic risk factors for type 1 and type 2 diabetes and how those risk factors interact with the environment. Scientists have linked several genetic mutations to diabetes risk, though not everyone with a genetic mutation will go on to develop the disease.

Healio spoke with Ruth Loos, PhD, professor at The Charles Bronfman Institute for Personalized Medicine at the Icahn School of Medicine at Mount Sinai, about the differences in genetic susceptibility for type 1 vs. type 2 diabetes, which genes might confer greatest risk, and what endocrinologists should know about the growing interest in at-home genetic testing kits.

Loos: It is important to make that distinction, because the genetics of type 1 vs. type 2 diabetes are very different. We know from twin studies, family studies and family history studies that diabetes is heritable. The lifetime risk for developing type 2 diabetes is almost 70% if both parents are affected. Type 2 diabetes is what we call a complex, polygenetic and multifactorial disease. When we say “polygenic,” a lot of genetic variants contribute to a person’s genetic susceptibility — some people may have a low genetic risk, whereas others may have a high genetic risk, but most of us have an average risk. While the heritability gives you an idea of how much genes contribute to variation in type 2 diabetes susceptibility in the overall population, a polygenetic risk score determines how many risk variants a person inherited from both parents. Thus, using this score, you can stratify the population by who is more genetically prone and who is less.

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