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

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。

Abstract:

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.