Xu Xin, Wang Li-han, Liu Hai-bo, Xu Chang-fu, Zhang Peng, Yong Fendi, Shi Yu-ping
Department of Cardiology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang 310009, P. R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct;30(5):601-7. doi: 10.3760/cma.j.issn.1003-9406.2013.05.021.
To assess the association of variations in chemokines (CCL5, CCL2), chemokine receptor (CCR5 and CCR2) genes with susceptibility to myocardial infarction (MI) through a case-control study.
Genotypes of patients with MI (n = 634) were compared with those of controls (n = 601). Genetic polymorphisms of CCL5 rs2107538 (-403G > A), CCL2 rs1024611 (-2518A > G), CCR5 rs333 ( δ 32 ins or del) and CCR2 rs1799864 (190G > A) of 1235 individuals were determined with polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Particular genotypes were confirmed with DNA sequencing.
No subject was found to carry the CCR5 - δ 32 allele. No association was found between CCL2 rs1024611 and CCR2 rs1799864 polymorphisms and MI. For CCL5 rs2107538 polymorphism, the A allele has occurred at a higher frequency in MI patients than controls, and its AA genotype has been associated with a significantly increased risk of MI independent of conventional risk factors (OR = 3.346, 95%CI = 1.938-5.775, P < 0.01, AA vs. GG). Further analysis indicated that MI patients had significantly more A-403 - A-2518 haplotype (CCL5 -403G > A and CCL2 -2518A > G, 21.8% vs. 26.6%, OR = 1.229, 95%CI = 1.012-1.493, P = 0.038) and AA or AA genotype (CCL5 -403G > A - CCL2 -2518A > G, 5.0% vs. 12.1%, OR = 3.245, 95%CI = 1.780-5.914, P < 0.01).
Although our data dose not support an association between CCL2 rs1024611, CCR2 rs1799864 and CCR5 rs333 polymorphisms and MI, genetic variation in CCL5 gene may still be a useful marker for assessing susceptibility to MI in ethnic Han Chinese population.
通过病例对照研究评估趋化因子（CCL5、CCL2）、趋化因子受体（CCR5和CCR2）基因变异与心肌梗死（MI）易感性之间的关联。
将心肌梗死患者（n = 634）的基因型与对照组（n = 601）进行比较。采用聚合酶链反应和限制性片段长度多态性（PCR-RFLP）方法测定1235例个体的CCL5 rs2107538（-403G>A）、CCL2 rs1024611（-2518A>G）、CCR5 rs333（δ32插入或缺失）和CCR2 rs1799864（190G>A）的基因多态性。通过DNA测序确认特定基因型。
未发现携带CCR5 - δ32等位基因的个体。未发现CCL2 rs1024611和CCR2 rs1799864多态性与心肌梗死之间存在关联。对于CCL5 rs2107538多态性，A等位基因在心肌梗死患者中的出现频率高于对照组，其AA基因型与心肌梗死风险显著增加相关，且独立于传统风险因素（OR = 3.346，95%CI = 1.938 - 5.775，P < 0.01，AA vs. GG）。进一步分析表明，心肌梗死患者具有显著更多的A-403 - A-2518单倍型（CCL5 -403G>A和CCL2 -2518A>G，21.8%对26.6%，OR = 1.229，95%CI = 1.012 - 1.493，P = 0.038）以及AA或AA基因型（CCL5 -403G>A - CCL2 -2518A>G，5.0%对12.1%，OR = 3.245，95%CI = 1.780 - 5.914，P < 0.01）。
尽管我们的数据不支持CCL2 rs1024611、CCR2 rs1799864和CCR5 rs333多态性与心肌梗死之间存在关联，但CCL5基因的遗传变异可能仍是评估汉族人群心肌梗死易感性的有用标志物。
