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 unusual versions of the SLC30A8 gene have been found in approximately 150,000 individuals from five different cultural backgrounds through DNA sequencing or genotyping. The SLC30A8 gene contains a common mutation (p.Trp325Arg) that is associated with an increased risk of type 2 diabetes and abnormal glucose and proinsulin levels. Those carrying severe variants had a 65% reduced likelihood of developing type 2 diabetes.