Association of polymorphism rs10841855 in the glycogen synthase 2 gene with hypercholesterolemia and type 2 diabetes mellitus

Background: Glycogen synthase 2 (GYS2) catalyzes a key step in glycogenesis the liver. Loss-of-function mutations GYS2 gene are associated with type 0a glycogenosis characteristic fasting hypoglycemia and postprandial hyperglycemia. The association of single nucleotide polymorphism rs10841855 (G>T) risk diabetes mellitus (T2D) was first established European population, but data on effect this variant predisposition to T2D inhabitants Slavic ethnic group Central Russia not available literature. aim study: To investigate residents Russia. Materials methods: study included 2668 unrelated individuals origin, including 1387 patients 1281 healthy volunteers. Genotyping performed by MassArray Analyzer-4 genetic analyzer. SNPStats software used for statistical analysis data. Results: Linear regression an alternative rs10841855-T allele (OR 1.25; 95% CI 1.09-1.43; P=0.001) rs10841855-G/T genotype 1.37; 1, 13-1.66; P=0.0064) increased T2D. sex- BMI-stratified showed that 1.71; 1.32-2.22; P=0.0001) occurred only females BMI>25 kg/m2. In addition, carriage higher level total cholesterol blood plasma (P=0.0068). According Roadmap Epigenomic Consortium, is H3K4 histone methylation enhancer promoter regions Conclusion: validated time. may be explained low transcriptional activity glycogen carriers polymorphism.