ADAM33基因位点多态性与慢性阻塞性肺疾病的相关性研究

发布时间：2018-05-03 21:23

本文选题：慢性阻塞性肺疾病 + 聚合酶链式反应　；参考：《山西医科大学》2013年硕士论文

【摘要】：目的探讨解整合素-金属蛋白酶33(ADAM33)基因单核苷酸多态性(SNPs)与山西汉族人群慢性阻塞性肺疾病(COPD)发病的相关性。方法对100例健康者(对照组)、103例COPD患者(病例组),利用聚合酶链式反应(PCR)以及DNA测序的方法,对ADAM33基因的BC+1和F+1位点多态性与COPD及肺功能的关系进行统计学分析。结果ADAM33基因BC+1位点3种基因型AA.AG.GG在对照组中分布为17.0%、56.0%、27.0%,在病例组中分布为15.5%、45.6%、38.8%,差异无统计学意义(x2=3.296,P0.05),其等位基因A和G的频率在对照组分别为45.5%、55.0%,病例组中分别为38.3%、61.7%,差异无统计学意义(x2=1.847,P0.05)。 ADAM33基因F+1位点3种基因型AA、AG、GG在对照组中分布为7.0%、51.0%、42.0%,在病例组中分布为20.4%、38.8%和40.8%,差异有统计学意义(x2=8.287,P0.05),其等位基因A和G的频率在对照组分别为32.5%、67.5%,在病例组中分别为39.8%、60.2%,差异无统计学意义(x2=2.345,P0.05)。 ADAM33基因的F+1位点多态性与肺功能的关系：该位点3种基因型间FEV1/FVC(%)比较,差异有统计学意义(F=2.837,P0.05)；但是与FEV1预计值(%)比较,差异无统计学意义(F=0.396,P0.05)。结论BC+1位点与该人群COPD的发病关系不明显；但是F+1位点对山西汉族人群COPD发病有一定的影响；F+1位点的多态性可能与肺功能有关指标的下降有关联。
[Abstract]:Objective To investigate the association between single nucleotide polymorphism ( SNPs ) of integrin - metal proteinase 33 ( SNPs ) and chronic obstructive pulmonary disease ( COPD ) in Shanxi Han population .

Methods 100 healthy subjects ( control group ) , 103 patients with COPD ( case group ) , polymerase chain reaction ( PCR ) and DNA sequencing were used to analyze the relationship between the polymorphism of BC + 1 and F + 1 sites in patients with COPD and lung function .

Results The three genotypes AA , AG and GG in the BC + 1 locus were 17.0 % , 56.0 % and 27.0 % in the control group , 15.5 % , 45.6 % and 38.8 % in the case group respectively . The frequencies of the alleles A and G were 45.3 % and 61.7 % in the control group , respectively , and the difference was not statistically significant ( x2 = 1.847 , P0.05 ) .

The frequencies of the alleles A and G of the three genotypes AA , AG and GG were 7.0 % , 51.0 % and 42.0 % in the control group . The frequencies of the alleles A and G were 32.5 % , 67.2 % in the control group and 39.8 % and 60.2 % respectively in the case group ( x2 = 2.345 , P0.05 ) .

The relationship between the polymorphism of the F + 1 locus and the lung function was found between the three genotypes : FEV1 / FVC ( % ) in the three genotypes ( F = 2.837 , P0.05 ) .
However , the difference was not statistically significant compared to predicted FEV1 ( % ) ( F = 0.396 , P0.05 ) .

Conclusion The BC + 1 locus is not related to the pathogenesis of COPD .
However , the F + 1 locus had some effects on COPD in the Han population in Shanxi Province .
The F + 1 site polymorphism may be associated with a decrease in lung function - related indicators .

【学位授予单位】：山西医科大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R563.9

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