摘要
目的探讨自噬相关基因-5(ATG5)单核苷酸多态性与中国西南地区汉族人群肺结核发病风险的相关性。方法2014年1月至2016年2月,纳入四川大学华西医院的900例活动性肺结核患者(肺结核组)和1534例健康对照者(健康对照组)进行研究。采用新型多重酶连接反应基因分型技术对ATG5基因上的9个单核苷酸多态性(SNP)位点(rs10484575、rs11754416、rs9486302、rs2284193、rs117827198、rs633724、rs79454666、rs77441653、rs3804338)进行基因分型。比较9个SNP位点的等位基因频率、基因型及遗传模型分布在肺结核组和健康对照组之间的差异,并采用Haploview 4.2软件进行连锁不平衡及单倍型分析。结果肺结核组与健康对照组ATG5基因rs10484575、rs11754416基因型频率差异有统计学意义(P=0.035、0.045),rs10484575携带A等位基因的个体患肺结核的风险降低(OR=0.711,95%CI:0.546~0.926,P=0.011),rs11754416携带A等位基因的个体患肺结核的风险降低(OR=0.717,95%CI:0.549~0.936,P=0.014)。遗传模型分析显示,rs10484575、rs11754416加性和显性模型与肺结核易感性降低有关。同时,rs10484575、rs11754416之间存在强连锁不平衡(r 2>96%),两种单倍型模型分布差异有统计学意义(P=0.011、0.016)。ATG5其余7个SNP位点在肺结核组和健康对照组中差异均无统计学意义(P>0.05)。结论ATG5的基因SNP rs10484575、rs11754416可能与中国西南地区汉族人群肺结核易感性有关。
Objective To explore the correlation between autophagy associated gene-5(ATG5)single nucleotide polymorphisms and the risk of pulmonary tuberculosis in the Han population in Southwest China.Methods From January 2014 to February 2016,900 patients with active pulmonary tuberculosis(tuberculosis group)and 1534 healthy controls(healthy control group)in West China Hospital,Sichuan University were enrolled in the study.Nine single nucleotide polymorphism(SNP)loci(rs10484575,rs11754416,rs9486302,rs2284193,rs117827198,rs633724,rs79454666,rs77441653,rs3804338)of ATG5 gene were identified by a novel multi-enzyme binding reaction genotyping technique.The distribution differences of allele frequencies,genotypes and genetic models of the 9 SNP loci between the pulmonary tuberculosis group and the healthy control group were compared,and Haploview 4.2 software was used to analyze the linkage disequilibrium and haplotype.Results The genotype frequencies of ATG5 gene rs10484575 and rs11754416 in pulmonary tuberculosis group and healthy control group were statistically significant(P=0.035,0.045),rs10484575 carrying the A allele had a reduced risk of tuberculosis(OR=0.711,95%CI:0.546-0.926,P=0.011),rs11754416 carrying the A allele had a reduced risk of tuberculosis(OR=0.717,95%CI:0.549-0.936,P=0.014).Genetic model analysis showed that the additive and dominant models of rs10484575 and rs11754416 were associated with reduced susceptibility to pulmonary tuberculosis.At the same time,rs10484575 and rs11754416 had strong linkage disequilibrium(r 2>96%),and the distribution difference between the two haplotype models was statistically significant(P=0.011,0.016).There was no significant difference in the other 7 SNPS of ATG5 between the pulmonary tuberculosis group and the healthy control group(P>0.05).Conclusion The SNPS rs10484575 and rs11754416 of ATG5 genes may be related to the susceptibility of pulmonary tuberculosis in the Han population in southwest China.
作者
姜闵慧
周娟
赵珍珍
周易
JIANG Minhui;ZHOU Juan;ZHAO Zhenzhen;ZHOU Yi(West China Precision Medicine Industrial Technology Institute,Chengdu,Sichuan 610000,China;Department of Laboratory Medicine,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China)
出处
《国际检验医学杂志》
CAS
2023年第9期1080-1084,共5页
International Journal of Laboratory Medicine
关键词
肺结核
自噬相关基因-5
易感性
单核苷酸多态性
tuberculosis
autophagy related gene-5
susceptibility
single nucleotide polymorphism
作者简介
姜闵慧,女,技师,主要从事分子诊断方面研究。;通信作者:周易,E-mail:zhouyi2011@qq.com。
