Association of APOE − 219G > T and −427T > C polymorphic variants in transcriptional regulatory region of APOE gene with gallbladder stone: A north Indian case-control study

Gallbladder stone (GBS) is a major cause of morbidity and mortality throughout the world including India. The significant role of APO E in the regulation of lipid metabolism raises the possibility that APO E promoter gene polymorphisms may be a predisposing factor for GBS formation. In this case control study total 358 subjects (n = 102 GBS subjects and n = 256 healthy control) between the age group of 18 to 70 years were enrolled. Three APO E promoter gene polymorphisms [−219G > T (rs.405509), −427T > C (rs.769446) and −491A > T (rs.449647)] were genotyped by using nested PCR-RFLP method. Out of three investigated polymorphisms, −219G > T and −427T > C were significantly associated with the risk of GBS. The frequency of mutant allele −219G was significantly higher and mutant allele −427C was significantly lower among GBS patients compared to the controls. Out of seven obtained haplotypes, the higher frequency of TCG and TTG haplotypes as well as lower frequency of TCT and ACT haplotypes of APO E gene polymorphisms was significantly associated with GBS patients. Thus we concluded that, the higher frequency of mutant allele −219G; haplotypes TCG and TTG, and lower of frequency of mutant allele −427C; haplotypes TCT and ACT of APO E gene polymorphism may be a predisposing genetic risk factor for the susceptibility of GBS among the north Indian population.