cd40基因单核苷酸多态性及其基因型与下肢动脉硬化闭塞症的相关性研究.docVIP

CD40基因单核苷酸多态性及其基因型与下肢动脉硬化闭塞症的相关性研究 　　[摘要] 目的 探讨CD40基因单核苷酸多态性及其基因型与下肢动脉硬化闭塞症的相关性。 方法 采用reverse transcription-PCR技术及DNA测序法对经动脉彩色多普勒检查诊断为下肢动脉硬化闭塞症的201例患者（病例组）及健康体检中未发现下肢动脉硬化闭塞症的198例健康人（对照组）进行检测分析，比较CD40基因rs1883 832C/T单核苷酸多态性及其基因型与下肢动脉硬化闭塞症的相关性。 结果 下肢动脉硬化闭塞症组与健康对照组CD40基因rs1883832C/T位点中CC基因相比，差异有统计学意义（χ2=7.380，P=0.007）；通过等位基因频率的危险性评估发现，C基因携带者患下肢动脉硬化闭塞症的风险是T基因携带者的1.304倍（OR=1.304）。 结论 CD40基因多态性位点rs1883832C/T与下肢动脉硬化闭塞症的发病显著相关，其中C等位基因可能是该疾病的危险因素。 　　[关键词] 基因；等位基因；动脉粥样硬化；单核苷酸多态性 　　[中图分类号] RR543.5；R440 [文献标识码] A [文章编号] 1673-9701（2016）36-0026-03 　　[Abstract] Objective To investigate the correlation between single nucleotide polymorphisms of CD40 gene as well as its genotype and arteriosclerosis obliterans of lower extremities. Methods 201 patients who were diagnosed with arteriosclerosis obliterans by arterial color Doppler ultrasonography examination（case group） and 198 cases of healthy patients who were not found lower extremity arteriosclerosis obliterans in health examination（control group） were detected and analyzed by use of reverse transcription-PCR and DNA sequencing. The correlation between CD18 gene rs1883832C/T single nucleotide polymorphisms as well as their genotype and lower extremity arteriosclerosis obliterans were compared. Results CC gene in CD40 gene rs1883832C/T locus of the case group was significantly different from that of the control group（χ2=7.380， P=0.007）. Through the risk assessment of allele frequency， it was found that the risk of atherosclerotic occlusive disease in C gene carriers was 1.304 times that of T gene carriers（OR=1.304）. Conclusion CD40 gene polymorphic locus 1883832C/T was significantly associated with the development of lower extremity arteriosclerosis obliterans， in which C allele may be a risk factor for the disease. 　　[Key words] Gene； Allele； Atherosclerosis； Single nucleotide polymorphism 　　下肢?勇鲇不?闭塞症是全身动脉粥样硬化在下肢动脉的表现，是反应全身动脉粥样硬化的一个窗口，通常发生在40岁以上人群中，随着年龄增加而逐渐加重[1]，常因动脉内膜增厚、管腔狭窄或闭塞导致间歇性跛行、患肢皮温低、疼痛甚至发生溃疡或肢体坏死[2]。近年来，越来越多的研究显示，