TNF基因多态性与矽肺易感性  

Polymorphisms of Tumor Necrosis Factor Gene and Susceptibility to Silicosis

作　　者：吴芬[1] 曲亚斌[1] 孙品[1] 仇玉兰[1] 刘静[1] 夏昭林[1] 

机构地区：[1]复旦大学公共卫生学院劳动卫生学教研室,上海200032

出　　处：《工业卫生与职业病》2007年第5期290-297,共8页Industrial Health and Occupational Diseases

摘　　要：目的探讨肿瘤坏死因子（TNF）α和β基因多态性与矿工矽肺遗传易感性的关系。方法采用病例对照设计,以男性矽肺病人183例为病例组,111例无矽肺的男性接尘矿工为对照组。应用聚合酶链反应—限制性片段长度多态性分析（PCR-RFLP）技术检测TNFα-308、-238和TNFβ＋252位点的多态性。结果TNFα-308、-238和TNFβ＋252各位点基因型在病例组和对照组间的分布差异均无统计学意义（P〉0.05）,但吸烟且携带-308A等位基因的接尘工人更易发生矽肺（OR=2.50,95%CI=1.17～5.37）。病例组中-308G/-238 G/＋252G和-308A/-238 G/＋252A单倍型分布频率显著高于对照组（P〈0.01）。结论TNFα-308、-238和TNFβ＋252位点基因多态在矽肺发病的遗传易感性中不起主要作用,但TNFα-308多态性与吸烟有交互作用。单倍型-308G/-238G/＋252G和-308A/-238G/＋252A可能是矽肺发生的易感性标记。Objective To explore the relationship between polymorphisms of TNF α, TNF β gene and genetic susceptibility to silicosis. Methods A case-control study was conducted. 183 male patients with silicosis were taken as the case group and 111 silicα-exposed male healthy miners as the control group. Polymerase chain reaction-restrained fragment length polymorphism technique （PCR-RFLP）was applied to detect the single nucleotide polymorphisms（SNPs）of TNF α-308, -238 and TNF β＋252. Results No association was observed between TNF α-308, -238 and TNF β＋ 252 polymorphisms and silicosis （P〉0.05）, but smokers with TNF α-308A allele were more susceptible to silicosis（OR= 2.50, 95%CI= 1.17～ 5.37）than smokers without the allele. The frequencies of -308G/-238G/＋ 252G and -308A/-238 G/＋252A haplotypes in the cases were higher than those in the controls （P〈0.01）. Conclusions TNF α-308, -238 and TNF β-252 polymorphisms were not susceptible factors to silicosis, but the -308 polymorphlsm had a synergistic effect with smoking. The - 308G/- 238G/＋ 252G and - 308A/-238G/＋ 252A haplotypes might be susceptibility markers of silicosis.

关 键 词：矽肺 易感性 肿瘤坏死因子 单倍型 

分 类 号：R135.2[医药卫生—劳动卫生]