SNaPshot微测序技术分析5-脂氧合酶激活蛋白基因与缺血性脑血管病的相关性  

Study of the relationship between ALOX5AP gene polymorphisms and the genetic susceptibility of ischemic cerebrovascular diseases by SNaPshot minisequencing method

作　　者：石聪聪[1] 贺颖[1] 杨冬之[2] 李涛[1] 宋国英[1] 齐华[1] 许予明[3] 郑红[1] 

机构地区：[1]郑州大学基础医学院遗传教研室,450052 [2]郑州大学生物工程系 [3]郑州大学第一附属医院神经内科

出　　处：《中华神经科杂志》2012年第3期163-168,共6页Chinese Journal of Neurology

基　　金：河南省医学科技攻关计划项目（200703005）;郑州市科技计划资助项目（10PTGG380-13）

摘　　要：目的探讨5-脂氧合酶激活蛋白（ALOX5AP）基因SG13S114A／T和SG13S32A／C两位点多态性与河南汉族人群缺血性脑血管病（ICVD）的遗传易患性。方法采用SNaPshot多重微测序技术检测246例河南汉族ICVD患者和245名健康对照者ALOXSAP基因SG13S114和SG13S32位点的多态性，运用SPSS16．0软件进行基因型频率、等位基因频率的比较，SHEsis软件进行单倍型分析和连锁不平衡检验。结果ICVD组SG13S114位点AA基因型频率及A等位基因频率明显高于对照组，差异有统计学意义。经性别及年龄分层分析发现，男性ICVD患者及年龄小于50岁的ICVD患者SG13S114位点的AA基因频率及A等位基因频率亦明显高于对照组，差异有统计学意义。单倍型分析发现：ICVD组A—A单倍型频率（30．4％）显著高于对照组（23．5％），差异具有统计学意义（OR=1．419，95％CI1．068～1．885，P=0．015）；T—C单倍型频率（22．0％）显著低于对照组（28．8％），差异具有统计学意义（OR=0．698，95％CI0．523—0．932，P=0．014）。结论SG13S114位点可能是河南地区汉族人群ICVD的遗传风险因子，并且该位点与男性ICVD患者及年龄小于50岁ICVD患者的发病关系更为密切。A—A单倍型可能是河南汉族人群ICVD发生的风险因子，T—C单倍型可能对河南汉族人群ICVD的发生具有保护作用。Objective To explore associations between SG13S114A/T and SG13S32A/C polymorphisms of ALOX5AP gene and the genetic susceptibility of ischemic cerebrovascular diseases （ICVD） in Henan Hart population. Methods Two hundred and forty-six ICVD patients and 245 healthy controls were recruited from Han population in Henan province. Polymorphisms of SG13S114A/T and SG13S32A/C in ALOXSAP gene were genotyped in these samples by SnaPshot minisequencing method. Each genotype frequency and allele frequency were statistically analyzed and compared between ICVD group and control group using SPSS16.0 software. Haplotype and linkage disequilibrium were analyzed by SHEsis software. Results The SG13S114 AA genotype frequency （ 18.7% ） and A allele frequency （41.3%） in ICVD group were significantly higher than those in control group （9.0% and 32.7% , respectively; P = 0. 002 and P = 0. 005 ）. It was also found that in male ICVD group and in younger ICVD group （ 〈 50 years old）, the SG13S114 AA genotype frequencies （22.1% and 22.0% , respectively） and A allele frequencies （42.1% and 42.7% , respectively） were significantly higher than those in male control group and younger control group （SG13S114 AA genotype： 9.0% and 8.9% ; P = 0. 010 and P = 0. 006, respectively） ; A allele frequencies, 34.0% and 32.0% ; P = 0. 048 and P = 0. 020, respectively. Finally, the prevalence of A-A haplotype in ICVD group was significantly higher than that in control group（ 30.4% vs 23.5% , OR = 1.419,95 % CI 1. 068-1. 885, P = 0. 015 ）. T-C haplotype frequency of ICVD group was significantly lower than that in control group （22.0% vs 28. 8%, OR = 0. 698,95% CI 0. 523-0. 932, P = 0. 014 ）. Conclusions The A allele in SG13S114 loci of ALOXSAP may be a genetic risk factor for ICVD in Han population in Henan province. The association is predominant in ICVD patients of male and younger than 50 years old. Maybe A-A haplotype increases the risk of ICVD and T-C haplotype and has a protective effect against ICVD in Hen

关 键 词：脑缺血 5-脂氧合酶激活蛋白质类 聚合酶链反应 

分 类 号：R743.3[医药卫生—神经病学与精神病学]