Twelve rare variants in SLC30A8 have been identified through the sequencing or genotyping of approximately 150,000 individuals from 5 different ancestry groups. SLC30A8 contains a common variant (p.Trp325Arg), which is associated with T2D risk and levels of glucose and proinsulin. Individuals carrying protein-truncating variants collectively had 65% reduced risk of T2D.
Several rare forms of the SLC30A8 gene have been identified in around 150,000 people from five different ethnic groups through DNA analysis or genotyping. The SLC30A8 gene contains a typical mutation (p.Trp325Arg) that is connected to an increased risk of type 2 diabetes and abnormal glucose and proinsulin levels. Individuals carrying severely impaired variants collectively had a 65% lower chance of developing type 2 diabetes.