Zheng Ying-Ying, Xie Xiang, Ma Yi-Tong, Yang Yi-Ning, Fu Zhen-Yan, Li Xiao-Mei, Pan Shuo, Adi Dilare, Chen Bang-Dang, Liu Fen
Department of Cardiology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, P.R., China.
Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830054, P.R., China.
Diagn Pathol. 2015 Apr 18;10:33. doi: 10.1186/s13000-015-0261-9.
Complement 5a receptor (C5aR) was demonstrated a receptor of complement 5a (C5a) which is involved in many inflammatory diseases. The functional responses attributed to C5a results from its interaction with its receptors C5aR, which stimulates food intake, plays a role in increasing the inflammatory response in adipose tissue as well as the cardiovascular and neural systems. However, There are unknown associations between the SNPs of C5aR1 gene and coronary artery disease (CAD).
We examined the role of the tagging single nucleotide polymorphisms (SNPs) of C5aR1 gene for CAD using a case-control design, and determined the prevalence of C5aR1 genotypes in 505 CAD patients and 469 age and sex-matched healthy control subjects of Han population.
The rs10853784 was found to be associated with CAD in dominant model (CC vs TT + CT, P = 0.004). The difference remained statistically significant after multivariate adjustment (OR = 1.430, 95% CI: 1.087 ~ 1.882, P = 0.011). There was no significant difference in genotype distributions of rs4577202 and rs7250152 between CAD patients and control subjects. The frequency of the haplotype (A-T-C) was significantly higher in the CAD patients than in the controls (P = 0.035), and the haplotype (A-C-T) was significantly lower in the CAD patients than in the control subjects in Chinese Han population (P = 0.002).
The results of this study indicate that rs10853784 of C5aR1 gene are associated with CAD in Han population of China, and A-C-T haplotypes may be protective genetic marker and the A-T-C may be risk genetic marker for CAD in Chinese Han population.
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补体5a受体（C5aR）是补体5a（C5a）的一种受体，参与多种炎症性疾病。归因于C5a的功能反应源于其与受体C5aR的相互作用，C5aR刺激食物摄入，在增加脂肪组织以及心血管和神经系统的炎症反应中起作用。然而，C5aR1基因的单核苷酸多态性（SNP）与冠状动脉疾病（CAD）之间存在未知关联。
我们采用病例对照设计研究了C5aR1基因标签单核苷酸多态性（SNP）在CAD中的作用，并确定了505例CAD患者和469例年龄及性别匹配的汉族健康对照者中C5aR1基因型的患病率。
发现rs10853784在显性模型中与CAD相关（CC与TT + CT相比，P = 0.004）。多变量调整后差异仍具有统计学意义（OR = 1.430，95%可信区间：1.087 ~ 1.882，P = 0.011）。CAD患者和对照者之间rs4577202和rs7250152的基因型分布无显著差异。在中国汉族人群中，CAD患者中单体型（A-T-C）的频率显著高于对照组（P = 0.035），而单体型（A-C-T）在CAD患者中显著低于对照组（P = 0.002）。
本研究结果表明，C5aR1基因的rs10853784与中国汉族人群的CAD相关，A-C-T单体型可能是CAD的保护性遗传标记，而A-T-C可能是CAD的风险遗传标记。
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