AI Article Synopsis
- Researchers analyzed genetic data from over 39,000 people to find new associations linked to glycemic traits and type 2 diabetes risk.
- They discovered a specific variant (p.Pro50Thr) that increases fasting plasma insulin levels by 12%, particularly in individuals of Finnish descent.
- This variant is associated with lower insulin sensitivity and a slightly higher risk of developing type 2 diabetes, highlighting its functional impact in glucose regulation.
Article Abstract
To identify novel coding association signals and facilitate characterization of mechanisms influencing glycemic traits and type 2 diabetes risk, we analyzed 109,215 variants derived from exome array genotyping together with an additional 390,225 variants from exome sequence in up to 39,339 normoglycemic individuals from five ancestry groups. We identified a novel association between the coding variant (p.Pro50Thr) in and fasting plasma insulin (FI), a gene in which rare fully penetrant mutations are causal for monogenic glycemic disorders. The low-frequency allele is associated with a 12% increase in FI levels. This variant is present at 1.1% frequency in Finns but virtually absent in individuals from other ancestries. Carriers of the FI-increasing allele had increased 2-h insulin values, decreased insulin sensitivity, and increased risk of type 2 diabetes (odds ratio 1.05). In cellular studies, the AKT2-Thr50 protein exhibited a partial loss of function. We extend the allelic spectrum for coding variants in associated with disorders of glucose homeostasis and demonstrate bidirectional effects of variants within the pleckstrin homology domain of .
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5482074 | PMC |
| http://dx.doi.org/10.2337/db16-1329 | DOI Listing |
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