A novel polymorphism (901G > a) of C5L2 gene is associated with coronary artery disease in Chinese Han and Uyghur population

作者：Zheng, Ying-Ying; Xie, Xiang; Ma, Yi-Tong^*; Yang, Yi-Ning; Fu, Zhen-Yan; Li, Xiao-Mei; Ma, Xiang; Chen, Bang-Dang; Liu, Fen

来源：Lipids in Health and Disease, 2013, 12: 139.

DOI：10.1186/1476-511X-12-139

• Acylation stimulating protein
• C5L2
• Triglyceride synthesis
• Coronary artery disease

Background: C5L2, a G protein-coupled receptor (GPCR), has been demonstrated to be a ligand for acylation-stimulating protein (ASP). The aim of the present study is to evaluate the association of a novel variation (901A > G) of C5L2 gene with coronary artery disease (CAD).
Methods: We identified a novel single nucleotide polymorphism (SNP), (901G > A), in exon 2 using a polymerase chain reaction direct-sequencing method. This nucleotide change causes the amino-acid order from Arginine to glutaminate at codon 300. We analyzed the relationship between this SNP and CAD in two independent case-control studies: one was in a Han population (492 CAD patients and 577 control subjects) and the other was in a Uygur population (319 CAD patients and 554 control subjects).
Results: The frequency of AG genotype in CAD subjects was less than that in the control subjects not only in Han (1.8% vs 8.6%, P < 0.001, OR = 0.143, 95% CI: 0.068 similar to 0.302) but also in Uygur population (0.9% vs 5.2%, P = 0.001, OR = 0.246, 95% CI: 0.072 similar to 0.837). After adjustment for known CAD risk factors such as hypertension, diabetes, smoking, age and gender, the difference remained significant.
Conclusion: The 901G > A polymorphism of C5L2 may be a genetic maker of CAD in the Han and Uygur population in western China.

• 出版日期2013-9-28
• 单位新疆医科大学