Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Bioinformatics Centre, Department of Biology, University of Copenhagen, Copenhagen, Denmark.
Nat Genet. 2018 Feb;50(2):172-174. doi: 10.1038/s41588-017-0022-7. Epub 2018 Jan 8.
We have identified a variant in ADCY3 (encoding adenylate cyclase 3) associated with markedly increased risk of obesity and type 2 diabetes in the Greenlandic population. The variant disrupts a splice acceptor site, and carriers have decreased ADCY3 RNA expression. Additionally, we observe an enrichment of rare ADCY3 loss-of-function variants among individuals with type 2 diabetes in trans-ancestry cohorts. These findings provide new information on disease etiology relevant for future treatment strategies.
我们已经在格陵兰人群中发现了与肥胖和 2 型糖尿病风险显著增加相关的 ADCY3（编码腺苷酸环化酶 3）变异。该变异破坏了剪接受体位点，并且携带者的 ADCY3 RNA 表达降低。此外，我们在跨血统队列的 2 型糖尿病患者中观察到罕见的 ADCY3 功能丧失变异的富集。这些发现为未来的治疗策略提供了与疾病病因相关的新信息。
