Division of Cardiovascular & Diabetes Medicine, Medical Research Institute, University of Dundee, Dundee, UK.
Nat Genet. 2014 Apr;46(4):323-4. doi: 10.1038/ng.2934.
Genome-wide association studies have previously identified variants in SLC30A8, encoding the zinc transporter ZnT8, associated with diabetes risk. A rare variant association study has now established the direction of effect, surprisingly showing that loss-of-function mutations in SLC30A8 are protective against diabetes.
全基因组关联研究先前已经鉴定出编码锌转运蛋白 ZnT8 的 SLC30A8 中的变体与糖尿病风险相关。一项罕见变异关联研究现已确定了作用方向，令人惊讶的是，SLC30A8 中的功能丧失突变对糖尿病具有保护作用。
