Rs780094

rs780094, a SNP in the GCKR gene encoding the glucokinase regulatory protein, contributes to the risk of type-2 diabetes and dyslipidaemia in mulitple populations. The effect on type 2 diabetes is probably mediated through impaired beta cell function rather than through obesity. The rs780094(A) risk allele is associated with the following traits :


 * higher levels of fasting serum triacylglycerol
 * impaired fasting and OGTT-related insulin release
 * dyslipidemia
 * somewhat reduced risk of type-2 diabetes

There may also be an additive effect between this SNP and a SNP known as 'GCK -30A', rs1799884, at least on fasting serum insulin levels.

rs780094 influences severe hypertriglyceridemia. 132 patients of European ancestry with severe HTG (fasting plasma TG>10 mmol/L), and 351 matched normolipidemic controls.

rs780094 may be acting as a proxy for a nearby tightly linked (r(2)=0.93) SNP, rs1260326, which encodes a common missense GCKR variant. Both are linked to opposite effects on fasting plasma triglyceride and glucose concentrations, and, associated with C-reactive protein levels.

In a study conducted on 6,580 Nondiabetic Finnish Men, the glucose-increasing allele of rs780094 in GCKR was significantly associated with low concentrations of VLDL particles (independently of their size) and small LDL and was nominally associated with low concentrations of intermediate-density lipoprotein, all LDL subclasses, and high concentrations of very large and large HDL particles.