摘要
目的探讨神经营养因子受体相关黑色素瘤抗原基因同源物(NRAGE)和p38基因多态性与闽南汉族人群下肢动脉粥样硬化(LEAD)发病的相关性。方法收集本院468例体检者的临床资料及外周静脉血,分为LEAD组(228例)和正常组(240例);采用Sequenom MassArray系统对该人群的NRAGE基因rs5991738、rs7882628、rs6614327、rs4986561和p38基因rs3761979、rs6457878、rs3804451等7个单核苷酸多态性(SNP)位点进行基因分型。结果 7个SNP位点均符合Hardy-Weinberg平衡;rs5991738和rs7882628,rs6457878和rs3804451位点之间均存在明显的连锁不平衡现象;rs5991738(OR=1.109)、rs6457878(OR=1.167)和rs3804451(OR=1.082)有致病性;rs5991738位点在2组间的等位基因分布频率比较有显著差异(P<0.05);rs5991738基因logistic回归分析显示:OR=3.901,L95值为1.257。结论 NRAGE基因rs5991738位点突变可能是LEAD致病相关危险因素之一。
Objective To study the association of NRAGE and p38 gene single nucleotide polymorphisms（SNP）with lower extremity atherosclerotic disease（LEAD）in Southern Fujian Han people.Methods Four hundred and sixty-eight subjects undergoing physical examination were divided into LEAD group（n=228）and control group（n=240）.The SNP of NRAGE genotypes（rs5991738,rs7882628,rs6614327,rs4986561,rs3761979,rs6457878,rs3804451）were detected by Sequenom MassArray System.Results The distribution of NRAGE genotypes（rs5991738,rs7882628,rs6614327,rs4986561,rs3761979,rs6457878,rs3804451）accorded with the HardyWeinberg Equilibrium.Significant linkage disequilibrium was found between rs5991738 and rs7882628 or between rs6457878 and rs3804451.The rs5991738,rs6457878 and rs3804451showed their pathogenicity（OR=1.109,OR=1.167,OR=1.082）.The distribution of rs5991738 frequency was significantly different between the two groups（P〈0.05）.Logistic regression analysis showed that the OR was 3.901 and the L95 was 1.257 for rs5991738.Conclusion The mutation of NRAGE genotype（rs5991738）may be one of the risk factors for LEAD.
出处
《中华老年心脑血管病杂志》
CAS
2016年第11期1147-1150,共4页
Chinese Journal of Geriatric Heart,Brain and Vessel Diseases
基金
南京军区医学科技创新课题(MS098)
