连接酶反应分析ALOX5AP基因?PDE4D基因与江苏南京地区腔隙性脑梗死的易感性

目的:分析江苏省南京地区汉族人群腔隙性脑梗死患者的ALOX5AP基因?PDE4D基因单核苷酸多态性(single nucleotide polymorphism,SNP),并研究其与脑梗死的发病是否存在相关性?方法:运用多聚酶链式反应(polymerase chain reaction,PCR)和连接酶检测反应(ligase detection reaction,LDR),观察280例腔隙性脑梗死患者和258例对照组人群的ALOX5AP基因及PDE4D基因的4个SNP位点,并进一步分析其基因型?结果:PDE4D基因rs966221?rs456009的等位基因?基因型频率在两组间没有显著性差异,单倍体型构成在两组间亦无显著性差异;ALOX5AP基因的两SNP(rs 4073259?rs4769055)的等位基因和基因型频率在两组间差异均有显著性(P < 0.05),SNP单倍体型(GA?GC)在两组间差异更为明显(P < 0.01)?结论:本研究未发现PDE4D基因与腔隙性脑梗死的发病相关,但ALOX5AP基因可能为中国江苏省南京地区腔隙性脑梗死的易感基因?

Association of ALOX5AP and PDE4D genes with the risk of Lacunar infarction in Nanjing city of Jiangsu province

Objective:To explore the single nucleotide polymorphism (SNPs) of 5-lipoxygenase activating protein(ALOX5AP) and phosphodiesterase 4D (PDE4D) genes on cerebral infarction,and if there is a relationship between the genes and susceptibility to cerebral infarction in the population of Nanjing city of Jiangsu Province. Methods:A total of 280 consecutive patients with Lacunar infarction(LI) and 258 population-based controls that had been matched for age and sex were examined using a case-control design. Four SNPs covering those two genes were genotyped with ligase detection reaction(LDR) and multiplex polymerase chain reaction(PCR). Results:All alleles and genotypes were similar between cases and controls in PDE4D,and no significant association with LI was revealed by haplotype anaylsis. However,both rs4073259 and rs4769055 in ALOX5AP were found to be associated with LI(P < 0.05). The GA haplotype was related to a significantly increasing risk of LI,and the GC haplotype showed an association with decreasing risk of LI(P < 0.01). Conclusion:The present study suggested that variants in the PDE4D gene were not the risk factors for LI in individuals from Nanjing city in Jiangsu Provinces. However,ALOX5AP might be involved in the incidence of LI in the Nanjing population.