ASSA13-11-2 Relationship Between Novel Polymorphisms of the C5L2 Gene and Coronary Artery Disease

Abstract

Objective C5L2, a G protein-coupled 7-transmembrane domain complement, has been demonstrated to be a functional receptor of acylation-stimulating protein (ASP), which is a stimulator of triglyceride synthesis or glucose transport. In this study, we will investingate the variations in the coding region of the C5L2 gene (C698T and G901A) and their association with coronary artery disease (CAD). Methods We identified novel single nucleotide polymorphisms (SNPs), (C698T and G901A) in exon 2 using a polymerase chain reaction direct-sequencing method. We examined the role of this SNP for CAD using two independent case-control studies: one was in the Han population (492 CAD patients and 577 control subjects) and the other was in the Uygur population (319 CAD patients and 554 control subjects). Results Using a polymerase chain reaction direct-sequencing method. We identified novel SNPs, 698C > T (P233L), and G901A (A300H) in exon 2. Heterozygote carriers of the 698CT genotype were more frequent among CAD patients than among controls not only in the Han population (7.3% versus 1.7%) but also in the Uygur population (4.7% versus 1.6%). The odds ratio ( OR ) for carriers of the 698CT genotype for CAD was 4.484 (95% confidence interval ( CI ): 2.197–9.174) in the Han group and 2.989 (95% CI : 1.292–6.909) in the Uygur population. After adjustment of confounding factors such as sex, age, smoking, alcohol consumption, hypertension, diabetes, as well as serum levels of triglyceride, total cholesterol, high-density lipoprotein, the difference remained significant in the Han group ( OR = 6.604, 95% CI : 2.776–15.711, P OR = 2.602, 95% CI : 1.015–6.671, P = 0.047). Heterozygote carriers of the 901GA genotype were more frequent among controls than among CAD patients not only in the Han population (8.6% versus 1.8%) but also in the Uygur population (5.2% versus 0.9%). The OR for carriers of the 901GA genotype for CAD in the Han population was 0.205 and 0.172 in the Uygur population. After adjustment of confounding factors, the difference remained significant in the Han group ( OR = 0.143, 95% CI : 0.068–0.302, P OR = 0.246, 95% CI : 0.072–0.837, P 2 = 22.713, P 2 = 19.022, P vs 0.008, P = 0.004); C-A haplotypefrequency in CAD group and the control group (0.026 vs 0.005, P = 0.001). Conclusions (1) C698T and the G901A in Han and Uygur population are association with coronary heart disease; (2) The 698CT and 901GA genotype of C5L2 may be a genetic maker of CAD in the Han and Uygur population in western China.