CAJ | 학술논문

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ALOX5 AP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.
목적 탐토5-지양합매격활단백(ALOX5AP)기인SG13S114A/T화SG13S32A/C량위점다태성여하남한족인군결혈성뇌혈관병(ICVD)적유전역환성.방법 채용SNaPshot다중미측서기술검측246례하남한족ICVD환자화245명건강대조자ALOX5 AP기인SG13S114화SG13S32위점적다태성,운용SPSS16.0연건진행기인형빈솔、등위기인빈솔적비교,SHEsis연건진행단배형분석화련쇄불평형검험.결과 ICVD조SG13S114위점AA기인형빈솔급A등위기인빈솔명현고우대조조,차이유통계학의의.경성별급년령분층분석발현,남성ICVD환자급년령소우50세적ICVD환자SG13S114위점적AA기인빈솔급A등위기인빈솔역명현고우대조조,차이유통계학의의.단배형분석발현:ICVD조A-A단배형빈솔(30.4％)현저고우대조조(23.5％),차이구유통계학의의(OR=1.419,95％ CI1.068～1.885,P=0.015)；T-C단배형빈솔(22.0％)현저저우대조조(28.8％),차이구유통계학의의(OR=0.698,95％ CI0.523 ～0.932,P=0.014).결론 SG13S114위점가능시하남지구한족인군ICVD적유전풍험인자,병차해위점여남성ICVD환자급년령소우50세ICVD환자적발병관계경위밀절.A-A단배형가능시하남한족인군ICVD발생적풍험인자,T-C단배형가능대하남한족인군ICVD적발생구유보호작용.
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 Han 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 ALOX5AP 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 ALOX5AP 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 Henan Han population.