KCNJ11 E23K — small type 2 diabetes risk shift
One copy of the KCNJ11 E23K variant detected.
You have one copy of a common DNA change in KCNJ11 that slightly raises type 2 diabetes risk.
A common variant with a small effect on type 2 diabetes risk. Effect is modest and well overshadowed by lifestyle factors.
A common DNA change with a small effect on type 2 diabetes risk. Lifestyle factors matter far more.
What this means
KCNJ11 encodes a potassium channel subunit in pancreatic beta cells — central to glucose-stimulated insulin secretion. E23K is a common variant that modestly affects insulin release. Rare KCNJ11 variants cause neonatal diabetes; this common one has a much subtler effect. The KCNJ11 channel is the target of sulfonylurea diabetes drugs.
KCNJ11 helps build a tiny channel inside the cells of your pancreas that release insulin. That channel is central to how your body responds to a meal — it tells the pancreas when to push insulin out. The common E23K version slightly changes how easily insulin gets released. (Rare, more severe DNA changes in the same gene can cause a form of diabetes that appears in newborns — this common version has a much subtler effect.) The same channel is the target of a class of diabetes drugs called sulfonylureas.
Caveats
- Modest effect; one of many type 2 diabetes risk loci.
- Lifestyle factors dominate the diabetes risk equation.
- Not relevant to neonatal diabetes (different rare KCNJ11 variants).
References
- Gloyn et al. — Large-scale association studies of variants in genes encoding the pancreatic β-cell K-ATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) (Diabetes, 2003)
- Voight et al. — Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis (Nature Genetics, 2010)