NGI Uppsala has contributed to a large collaborative study of the genetic architecture of type 2 diabetes (T2D) conducted by over 300 scientists in 22 countries. The study was published by Nature on July 11th and involves data generated from over 120,000 individuals. NGI Uppsala performed exome sequencing of Swedish T2D patients and controls from the large ULSAM cohort included in the study.
Not only were several T2D associated DNA sequence variants found, giving new insight into the biology of diabetes, but the study also contributed with new knowledge to a longstanding research question. Whether most of the genetic differences that influence individual predispositions to common diseases are widely shared within populations, or whether they are rare or unique events in an individual family has been vividly debated among scientists. This is important since it will affect how personalized medical treatments of T2D can be developed. Even though some rare variants were found, the overall results suggest that for T2D, genetic risk is predominantly driven by common risk variants that are widely shared both within and between populations.