Article
A Partial Loss-of-Function Variant in AKT2 Is Associated With Reduced Insulin-Mediated Glucose Uptake in Multiple Insulin-Sensitive Tissues: A Genotype-Based Callback Positron Emission Tomography Study.
Diabetes - 1 Feb 2018
Latva-Rasku Aino, Honka Miikka-Juhani, Stančáková Alena, Koistinen Heikki A, Kuusisto Johanna, Guan Li, Manning Alisa K, Stringham Heather, Gloyn Anna L, Lindgren Cecilia M, Collins Francis S, Mohlke Karen L, Scott Laura J, Karjalainen Tomi, Nummenmaa Lauri, Boehnke Michael, Nuutila Pirjo, Laakso Markku
Abstract excerpt
Rare fully penetrant mutations in AKT2 are an established cause of monogenic disorders of glucose metabolism. Recently, a novel partial loss-of-function AKT2 coding variant (p.Pro50Thr) was identified that is nearly specific to Finns (frequency 1.1%), with the low-frequency allele associated with an increase in fasting plasma insulin level and risk of type 2 diabetes. The effects of the p.Pro50Thr AKT2 variant...
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