ADAM33基因多态性与新疆维吾尔族人群支气管哮喘的相关性研究

发布时间：2018-03-26 19:17

本文选题：支气管哮喘　切入点：维吾尔族　出处：《新疆医科大学》2012年硕士论文

【摘要】：目的：分析新疆地区维吾尔族人群中ADAM33基因T2、V4位点多态性及其连锁不平衡关系，探讨T2、V4位点单核甘酸多态性及其构成的单体型与支气管哮喘易感性之间的关系。方法：采用病例-对照研究的方法，就反应产物进行限制性片段长度多态性分析，对哮喘组125例及对照健康组125例进行ADAM33基因T2、V4多态性位点分析。结果：(1)病例组和对照组年龄、性别比较均无显著性差异。(2)ADAM33基因T2、V4位点基因型频率分布符合H W平衡定律。(3)ADAM33基因T2、V4位点基因型分布和等位基因频率在病例组和对照组中分布不同。两组间基因型与等位基因的频率比较，，差异有统计学意义(P=0.011，0.003；0.008，0.000)。以野生型等位基因G和C为参照，突变等位基因A和G可增加哮喘的发病风险，其OR值分别为2.139和1.912。(4)ADAM33基因T2、V4多态性位点与哮喘病情严重度均无统计学意义(P=0.092，0.146)；但是，V4位点三种基因型间第一秒用力呼气量(FEV1)实测值/预测值%水平有差异，GG基因型与CC基因型FEV1、FVC的实测值/预测值%水平差异有统计学意义(P=0.013)。(5)ADAM33基因两个SNPs进行了配对连锁不平衡分析，结果提示位点间存在弱的连锁不平衡，构建了4种单体型，其中两种单体型频率在病例组和对照组的分布差异有统计学意义。在哮喘患者，GG的频率明显高于对照组(P=0.009)，其OR值为1.596；健康对照组，CG的频率高于病例组(P=0.000)，OR值为0.442，可明显减少患哮喘的风险。结论：(1)ADAM33基因T2、V4多态性位点与维吾尔族人群哮喘的发生有显著的相关性。T2位点等位基因G可能是哮喘病的保护基因，等位基因A可能是哮喘病的易感基因；V4位点等位基因C可能是哮喘病的保护基因，等位基因G可能是哮喘病的易感基因；(2)两位点与哮喘患者的病情程度无显著相关性。V4位点的SNPs与肺功能具有统计学意义。(3)ADAM33基因单体型分布在维吾尔族病例组和对照组中有统计学意义。
[Abstract]:Objective: to analyze the polymorphism and linkage disequilibrium relationship of ADAM33 gene T2OV4 locus in Uygur population in Xinjiang. To investigate the relationship between monoglycerin polymorphism and haplotype of T _ 2 and V _ 4 locus and susceptibility to bronchial asthma. Methods: the restriction fragment length polymorphism (RFLP) of the reaction product was analyzed by a case-control study. The polymorphism of T2V4 gene in ADAM33 gene was analyzed in 125 asthmatic patients and 125 healthy controls. Results the age of the two groups was 1: 1). There was no significant difference between the two sexes. The genotype frequency distribution of T2ADAM33 gene T2V4 locus conforms to the H / W equilibrium law. The genotype distribution and allele frequency of T2ADAM33 gene T2ADAM33 gene are different between the two groups and between the two groups. Compared with the frequency of alleles, The difference was statistically significant. Wild type alleles G and C were taken as reference, and mutant alleles A and G increased the risk of asthma. Their OR values were 2.139 and 1.912.(4)ADAM33 gene T2V4 polymorphism and asthma severity, respectively. There was no significant difference between the three genotypes (P < 0.092), but there was no significant difference in FEF 1 / predicted value% between the three genotypes (P < 0. 092 or 0. 146), but there was no significant difference in the GG genotypes (P < 0. 092, P < 0. 01, P < 0. 05). There was significant difference between the measured value and predictive value% level of FEV1 / FVC of CC genotype. The linkage disequilibrium was analyzed by pairing linkage disequilibrium analysis between two SNPs of P0.013 and ADAM33 gene. The results suggested that there were weak linkage disequilibrium among loci, and four haplotypes were constructed. The frequency of GG in asthmatic patients was significantly higher than that in the control group (OR = 1.596), and the frequency of CG in healthy control group was higher than that in the case group (OR = 0.442P). Conclusion there is a significant correlation between the T2V4 polymorphism of ADAM33 gene and the occurrence of asthma in Uygur population. Allele G at T2 locus may be a protective gene for asthma in Uygur population. Allele A may be the susceptibility gene of asthma, allele C may be the protective gene of asthma. Allele G may be the susceptibility gene of asthma, Guan2) there is no significant correlation between the two loci and the severity of asthma. The SNPs of V4 locus has statistical significance with pulmonary function. The haplotype of ADAM33 gene is distributed in Uygur case group. There was statistical significance in the radiation group.
【学位授予单位】：新疆医科大学
【学位级别】：硕士
【学位授予年份】：2012
【分类号】：R562.25

【参考文献】