A novel polymorphism (901G > a) of C5L2 gene is associated with coronary artery disease in Chinese Han and Uyghur population.
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 ~ 0.302) but also in Uygur population (0.9% vs 5.2%, P = 0.001, OR = 0.246, 95% CI: 0.072 ~ 0.837). After adjustment for known CAD risk factors such as hypertension, diabetes, smoking, age and gender, the difference remained significant.


CONCLUSIONS
The 901G > A polymorphism of C5L2 may be a genetic maker of CAD in the Han and Uygur population in western China.
Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi 830054, P,R, China. myt_xj@sina.com.
Ying-Ying
YY
Zheng
Xiang
X
Xie
Yi-Tong
YT
Ma
Yi-Ning
YN
Yang
Zhen-Yan
ZY
Fu
Xiao-Mei
XM
Li
Xiang
X
Ma
Bang-Dang
BD
Chen
Fen
F
Liu
D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D002681:China; D003062:Codon; D003324:Coronary Artery Disease / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D005006:Ethnicity; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D044087:Receptor, Anaphylatoxin C5a; D019707:Receptors, Chemokine / Q000235:genetics*; D012307:Risk Factors; D017422:Sequence Analysis, DNA
C417003:C5aR2 protein, human; D003062:Codon; D044087:Receptor, Anaphylatoxin C5a; D019707:Receptors, Chemokine