Variation of the butyrylcholinesterase (BChE) and acetylcholinesterase (AChE) genes in coronary artery disease.

Butyrylcholinesterase (BChE) and acetylcholinesterase (AchE) are two enzymes of the cholinergic system putatively involved in coronary artery disease (CAD). We investigated two single nucleotide polymorphisms (SNPs) of the genes encoding these enzymes to determine whether some allele or genotype might represent a factor of risk or protection for CAD onset. AChE rs2571598 and BChE rs1803274 (the so-called K-variant) SNPs were investigated in a sample of 199 patients and 199 healthy subjects. No significant results were obtained for BChE, whereas for AChE the A allele was found significantly more frequent in patients than in controls (0.437 vs. 0.332; p=0.002). The crude Odds Ratio (OR) for CAD conferred by carrying the A allele was 1.76 (95% confidence interval [CI] 1.17-2.65). Stratification of the sample by gender revealed that the statistical significance was limited to female, where the crude OR associated with the A allele was 3.26 (95% CI 1.58-6.73). The lipidic pattern was also tested and related to variation of the two SNPs. In this case, an at limits significant result (p=0.03) was obtained for BChE, whose A allele (the K variant) in patients was found associated with higher plasma concentrations of high density lipoprotein-cholesterol.