K121Q variant in ENPP1 gene is associated with T2DM in the Egyptian population

Abstract

Our aim was to evaluate the association of K121Q variant with T2DM in the Egyptian population. Genotyping of K121Q variant was performed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) for 212 subjects with T2DM and 170 normoglycemic subjects. The genotypes were KK, KQ, and QQ. Currently, the genotypes distribution and allele frequencies were significantly different between T2DM and control groups (p = 0.023, 0.005 respectively). The Q allele frequency was 32.59%, while the K allele frequency was 67.41% in total subjects. K121Q variant was associated with T2DM (OR = 1.52, 95% CI = 1.12–2.06) in an additive model of inheritance. Multiregression analysis was carried out to detect the effect of K121Q genotypes on lipid profile after adjustment for age, gender, and body mass index (BMI). The subjects with KQ or QQ genotype had significantly higher levels of low density lipoprotein-cholesterol (LDL-C) and total cholesterol (TC) and significantly lower levels of high density lipoprotein-cholesterol (HDL-C) in comparison to KK genotype either in the diabetic or in the control groups. Our findings revealed that K121Q variant is associated with T2DM in the Egyptian population in an additive model. Both KQ and QQ genotypes had an abnormal lipid profile in comparison to KK genotype in both diabetic and control groups.