新疆维汉民族CD14基因C(-260)→T多态性与冠心病、血脂的关系

目的研究新疆地区维汉民族患者CD14基因启动子C（-260）→T位点多态性的分布特点及其与冠心病（CHD）、血脂的相关关系。方法采用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）技术的分析方法，检测了390例新疆地区维汉患者CD14基因启动子C（-260）→T多态性，同时检测其血脂水平；以冠状动脉造影为“金标准”，区分CHD组及对照组。结果新疆地区汉族患者中CD14基因启动子-260位点CC、CT和TT基因型频率在CHD组和对照组分别为20．33％、52．70％、26．97％和37．58％、43．63％、18．79％，等位基因C、T频率分别为46．68％、53．32％和59．40％、40．60％。该基因多态性的分布在维汉民族间差异均无统计学意义；与国外不同种族相比，仅与捷克人群差异有统计学意义（P〈0．05）。同时该位点多态性与血脂水平间不存在相关关系（P〉0．05）。结论CD14基因C（-260）→T位点多态性与新疆地区维汉人群CHD发病具有相关性，T等位基因可能是CHD的遗传易感基因；该位点多态性在维汉民族间的分布差异无统计学意义；与捷克、德国、日本、美国等不同种族人群进行比较，该位点多态性仅与捷克人群差异有统计学意义。该多态性不同基因型间血脂水平差异无统计学意义，其致CHD机制可能与血脂代谢无关。

Distribution of -260 C/T single nucleotide polymorphisms (SNP) in the promoter region of CD14 gene and its significance for coronary heart disease and plasma lipids levels between the Han and the Uyghur people in Xinjiang

Objective To investigate the distribution of CD14 promotergene C （-260）→T polymorphism between the Han and Uyghur population in xinjiang, analyze its significance for coronary heart disease and plasma lipids levels between the Han and the Uyghur people in Xinjiang. Methods Genotypes of CD14 were typed in 390 included subjects by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）;Simultaneous determination of blood lipid level. As a gold standard, selected coronary angiography was performed in all patients. Results The frequency of genotype CC, CT and TT in CHD group and control group was respectively 20.33%,52.70% ,26.97% and 37.58% ,43.63%, 18.79% ,which of C, T allele was respectively 46.68% ,53.32% and 59.40%,40.60 %. No statistically significant difference was found between the two groups. Compared with other ethnics, there exited difference only between Czech population and Chinese population （P〈0.05）. No association was found between the genotypes and plasma lipids levels（P〉0.05）. Conclusion The polymorphism of CD14 C（-260）→T was associated with CHD in xinjiang population. T allele may be a risk factor for CHD. There was no significant difference between the Hart and the Uyghur groups. Compared with Czech, Germany, Japan and America population, significant difference was found only between Czech population and Chinese population（P〈0.05 ）.There was no significant difference between different genotype groups. The pathogenic mechanism of the gene Polymorphism was possibly unrelated to blood lipid metabolism.