Sharda S, Gilmour A, Harris V, Singh V P, Sinha N, Tewari S, Ramesh V, Agrawal S, Mastana S
Int J Cardiol. 2008 Feb 29;124(2):254-8. doi: 10.1016/j.ijcard.2006.12.021. Epub 2007 Mar 26.
Polymorphisms in genes coding for chemokine receptors, CCR2 and CCR5 have been studied as genetic markers of coronary artery disease (CAD). V64Ile polymorphism in CCR2 has been implicated in the manifestation of myocardial infarction in different populations, but data on association of the CCR5 deletion variant in etiology of CAD are conflicting. In the present study we tested genetic association between CCR5 Delta32 polymorphism and CAD among North Indians (Uttar Pradesh).
Two hundred angiographically proven patients with coronary artery disease and two hundred age, sex and ethnically matched controls were genotyped for CCR5 Delta32 polymorphism by polymerase chain reaction. Genotype/allele frequencies were compared in patients and controls using the chi-square test.
The frequency of the heterozygote genotype in the population, including both patient and control group, was 3% and the frequency of the mutant allele Delta32 was 1.5%. CAD patients had a three times higher (4.6% vs. 1.5%) frequency of heterozygote genotype but the differences were statistically not significant. Association analysis did not achieve statistical significance, though odds ratio of 3.13 was observed for heterozygote genotype.
The allele frequency of the CCR5 Delta32 polymorphism in CAD patients is 2.25% and 0.75% among controls but the differences were not significant. Overall this fits well with the pattern of CCR5 Delta32 allele frequency in Indian subcontinent where it varies from 1 to 3%. The heterozygote (+/ Delta32) genotype does not seem to have any protective role against development of CAD in this population. In fact, North Indian CAD had a higher frequency of CCR5 Delta32 allele suggesting a possible susceptibility trend (odds ratio 3.08, CI 0.83-11.46, chi-square 2.167, NS).
编码趋化因子受体CCR2和CCR5的基因多态性已作为冠状动脉疾病（CAD）的遗传标记进行研究。CCR2基因的V64Ile多态性与不同人群中心肌梗死的表现有关，但关于CCR5缺失变异体在CAD病因学中的关联数据存在冲突。在本研究中，我们检测了北印度人（北方邦）中CCR5 Delta32多态性与CAD之间的遗传关联。
对200例经血管造影证实的冠心病患者以及200例年龄、性别和种族匹配的对照进行CCR5 Delta32多态性的聚合酶链反应基因分型。使用卡方检验比较患者和对照中的基因型/等位基因频率。
包括患者组和对照组在内的人群中杂合子基因型的频率为3%，突变等位基因Delta32的频率为1.5%。CAD患者中杂合子基因型的频率高出三倍（4.6%对1.5%），但差异无统计学意义。关联分析未达到统计学显著性，尽管杂合子基因型的比值比为3.13。
CAD患者中CCR5 Delta32多态性的等位基因频率在对照组中为2.25%和0.75%，但差异不显著。总体而言，这与印度次大陆CCR5 Delta32等位基因频率的模式相符，其范围为1%至3%。杂合子（+/Delta32）基因型在该人群中似乎对CAD的发生没有任何保护作用。事实上，北印度CAD患者中CCR5 Delta32等位基因的频率较高，提示可能存在易感性趋势（比值比3.08，CI 0.83 - 11.46，卡方2.167，无显著性差异）。
