引用本文:黄 秦1,赵凤容2,李 霞3,胡少婷1,贺 巧3,周向东1,李升锦1,陈维贤3.ATG4A及ATG16L1基因多态性与肺结核易感性的关系[J].重庆医科大学学报,2015,(4):599~603
ATG4A及ATG16L1基因多态性与肺结核易感性的关系
Association between ATG4A,ATG16L1 gene polymorphism and the susceptibility to pulmonary tuberculosis
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中文关键词:  肺结核  ATG4A  ATG16L1  单核苷酸多态性  遗传学
英文关键词:pulmonary tuberculosis  autophagy related 4A  autophagy related 16-like 1  single nucleotide polymorphism  genetics
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黄 秦1,赵凤容2,李 霞3,胡少婷1,贺 巧3,周向东1,李升锦1,陈维贤3 1. 重庆医科大学附属第二医院呼吸内科重庆 4000102. 重庆市酉阳县人民医院妇产科重庆 4098003. 重庆医科大学附属第二医院检验科重庆 400010 
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中文摘要:
      目的:探讨自噬相关基因4A(autophagy related 4A,ATG4A)及自噬相关基因16L1(autophagy related 16 like 1,ATG16L1)的多态性位点与中国西南地区人群肺结核易感性的关系。方法:采用聚合酶链反应-限制性片段长度多态性技术检测218例肺结核患者及248例健康对照者ATG4A基因rs807185位点及ATG16L1基因rs2241880位点的基因型,用logistic回归分析上述2个位点与肺结核病易感的相关性。结果:2组人群中rs807185位点的A等位基因、AT基因型及显性模型AA+AT vs. TT的频率分布存在统计学差异(P<0.05),且在女性中差异更突出。而rs2241880位点的各指标频率分布差异均不明显(P >0.05)。结论:ATG4A基因rs807185位点多态性与中国西南地区人群肺结核易感性呈负相关,而ATG16L1基因rs2241880位点多态性则与该地区人群肺结核易感性无明显相关。
英文摘要:
      Objective:To investigate the relationship between ATG4A gene rs807185(T/A),ATG16L1 gene rs2241880(A/G) polymor-phism and the susceptibility to pulmonary tuberculosis(PTB) in the Southwestern Chinese population. Methods:The single nucleotide polymorphism(SNP) of the ATG4A gene rs807185 and ATG16L1 gene rs2241880 were genotyped by polymerase chain reaction-re-striction fragment length polymorphism(PCR-RFLP) in 218 cases versus 248 controls. Logistic regression was used to analyze the correlation between the site and the susceptibility to PTB. Results:Frequencies of A allele(OR=0.69,95%CI=0.51 to 0.92,P=0.012),AT genotype(OR=0.53,95%CI=0.30 to 0.92,P=0.025),and AA+AT vs. TT(OR=0.62,95%CI=0.42 to 0.92,P=0.017) were reduced significantly in cases than in controls. In female respondents,aforementioned indices did the same. The frequencies distribution of geno-type,allele and dominant/recessive model in rs2241880 site had no significant difference(P >0.05) in cases and controls. Conclusion:Genetic variant in ATG4A gene(rs807185) are associated with pulmonary tuberculosis susceptibility in a Southwestern Chinese pop-ulation. However,the SNP of ATG16L1 rs2241880 might not be associated with the susceptibility to PTB.
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