PI基因rs1051052位点多态性与喀什地区维吾尔族COPD易感相关性研究  

Association between PI gene rs1051052 polymorphism and chronic obstructive pulmonary disease in Kashiger Xinjiang Uyghur population

作　　者：米热班.热夏提 李黎[1] 王怀振[1] 买买提艾力.吐尔逊 阿提开木.依明 钟雪梅[1] 任杰[1] 张娟[1] 木克热木.亚森 古兰白尔.阿布都热西提 

机构地区：[1]新疆喀什地区第一人民医院呼吸与危重症医学科,新疆喀什844000

出　　处：《新疆医科大学学报》2017年第3期337-340,共4页Journal of Xinjiang Medical University

基　　金：新疆维吾尔自治区卫计委青年科技基金(2015Y01)

摘　　要：目的研究世居喀什的维吾尔族PI(proteaseinhi-bitor 1)基因相关位点是否存在基因多态性,比较其在慢性阻塞性肺疾病(Chronic Obstructive Pulmonary Disease,COPD)和正常个体的差异,进而判断PI基因rs1051052位点与COPD发生的相关性。方法选取226例COPD患者作为病例组,同时选202例健康者作为对照组,利用Sequenom MassARRAY SNP技术对PI基因进行多态性分析,并且将对COPD病例组及健康对照组实验结果进行SNP位点的哈代平衡(Hardy-Weinberg)卡方检验,并对病例组、健康对照组中PI基因rs1051052位点不同基因型进行PBL的相对危险度分析。结果 SNP在病例组中哈代平衡检验P值均<0.05,分布不符合Hardy-Weinberg平衡,而对照组中哈代平衡检验P值>0.05,分布符合Hardy-Weinberg平衡。PI(rs1051052)基因位点存在GG、AG、AA 3种基因型,健康对照组以AG基因型为主,GG基因型较少,AA基因型最低,其中A等位基因频率较G等位基因频率高,而COPD病例组以GG基因型为主,GA基因型较少,AA基因型最低,其中A等位基因频率较G等位基因频率低。病例组与对照组(rs1051052)GG、AG、AA 3种基因型分布频率比较差异有统计学意义(χ~2=62.991,P<0.001);基于共显性模型遗传模型,进行rs1051052基因型与疾病的关联分析,差异有统计学意义(P<0.001)。结论 PI基因rs1051052基因位点多态性可能与喀什地区维吾尔族COPD患者的易感性有相关性。Objective To investigate whether the populations of the world Kashi Uyghur PI gene loci related to the presence of gene rs1051052 polymorphism, and compare their differences in disease and nor-mal individuals, judge analysis the correlation between related gene locus and the occurrence of disease. Methods 226 patients with COPD served as the study group and 202 healthy people as the control group. In the present study, we genotyped the single nucleotide polymor-phisms （SNPs） from PI by special allele multiprobe technology and identified its gene type. The Hardy-Weinberg case-control data were analyzed u-sing a chi-square test and correlation analysis. Results Hardy-Weinberg test suggested that the distribution of SNP in the study group do not in line the Hardy-Weinberg balance （P %0.05）, while the distribution of SNP in the control group was in line with the Hardy-Weinberg balance. There are GG, AG, AA 3 genotypes on PI （rs1051052） gene locus. Control group with AG genotype is the most, GG genoty- peis less, and AA genotype is the lowest, the A allele frequency higher then G allele frequency. While the study group with GG genotype is the most, GA genotype is less and AA genotypethe is lowest, and the A allele frequency lower than G allele frequency. The difference GG, AG, AA 3 kinds of genotype frequency distribution on PI （rs1051052） in the study group and control group was statistically significant （X^2 = 62.991,P〈0.001）; COPD dominant genetic model based on correlation analysis of rs1051052 genotypes and diseases showed the difference was statistically significant （P〈0. 001）. Conclusion SNP rs1051052rom PI is a COPD susceptibility gene in Kashiger Xinjiang Uyghur population.

关 键 词：PI 血清α1-抗胰蛋白酶 单核酸基因多态性 维吾尔族 慢性阻塞性肺疾病(COPD) 

分 类 号：R562[医药卫生—呼吸系统]