中文摘要：

目的：探讨中国汉族人群一氧化氮合酶-1接头蛋白（NOS1AP）基因多态性与阿尔茨海默病（AD）的相关性。方法：采用Taq Man探针基因分型技术对300例AD患者（病例组）及716名正常对照者（正常对照组）进行NOS1AP基因多态性（rs1415263、rs4145621、rs12742393、rs348624）分型,应用SHEsisplus和SNPstats在线软件比较两组间的等位基因频率、基因型频率、单体型频率分布。结果：rs4145621、rs12742393和rs348624等位基因频率（χ^2=2.78,P=0.095;χ^2=2.489,P=0.115;χ^2=0.002,P=0.964）两组间分布差异无统计学意义;基因型频率在5种遗传模式下（经年龄、性别校正后P均〉0.05）两组间分布差异无统计学意义;单体型CC（rs4145621-rs12742393）正常对照组的频率低于病例组（0.011 vs 0.028;χ^2=6.103,P=0.013）,经性别、年龄校正后差异无统计学意义（P=0.52）,其余CA、TC、TA单体型在两组中分布差异无统计学意义（P〉0.05）。结论：在中国汉族人群中,NOS1AP基因可能不是AD的易感基因。

英文摘要：

Objective：To explore the association between the nitric oxide synthase-1 adaptor protein （NOS1AP）gene and Alzheimer′s disease（AD）in Chinese Han population. Method：Four SNPs（rs1415263, rs4145621,rs12742393,rs348624 in NOS1AP）were selected and genotyped by TaqMan genotyping assay in a case-control study with 300 AD cases（case group）and 716 healthy controls（control group）in Chinese Han population. The allele,genotype and haplotype frequencies of the SNPs were compared with SHEsis plus and SNPstats softwares. Results：No significant differences in allele distribution of SNPs（rs4145621,rs12742393, rs348624）（χ^2 = 2. 78,P = 0. 095;χ^2 = 2. 489,P = 0. 115;χ^2 = 0. 002,P = 0. 964）between two groups,also no significant difference in genotype distribution in all five inheritance models of Logistic regression analysis（after adjusted for age and sex,all P 〉 0. 05）. The frequency of haplotype CC（consist of rs4145621 and rs12742393） for control group was lower than the case group（0. 011 vs 0. 028,χ^2 = 6. 103,P = 0. 013）,which became no significant difference after adjusted for age and sex（P = 0. 52）. The frequency of other three haplotypes（CA, TC,TA）showed no significant difference between two groups（ all P 〉 0. 05）. Conclusion：The polymor-phisms in NOS1AP gene might not be associated with Alzheimer′s disease in Chinese Han population.