Wu Fen, Qu Ya-bin, Sun Pin, Ji Fang, Qiu Yu-lan, Miao Wen-bin, Wang Wei, Jin Ru-feng, Xia Zhao-lin
Department of Occupational Health, School of Public Health, Fudan University, Shanghai 200032, China.
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2008 Jan;26(1):7-11.
To explore the relationship between polymorphisms of FAS and FASL genes and genetic susceptibility of silicosis.
A case-control study was conducted. The case group was 183 male patients with silicosis and the control group was 111 male silica-exposed but without silicosis miners. Data on total dust concentrations was collected to estimate cumulative total dust exposure (CTE) of each subject and each person's characteristics and work history were obtained from questionnaire. Polymerase chain reaction re-strained fragment length polymorphism technique (PCR-RFLP) was applied to detect the single nucleotide polymorphisms (SNPs) of FAS-1377, FAS-670 and FASL-844. Associations between polymorphisms and risk of silicosis and stages, interactions between polymorphisms, between polymorphisms and CTE and smoking and haplotypes were analyzed.
There were no differences in the FAS-1377, FAS-670 and FASL-844 genotypes between the case group and the control group (P > 0.05). No association was observed between FAS-1377, FAS-670 and FASL-844 polymorphisms and silicosis and stages (P > 0.05). The frequencies of FAS-1377G/-670G haplotype in the cases (9.6%) were higher than those in the controls (3.6%) (P < 0.05). No interactions between the polymorphisms of different genes, the gene polymorphism and the total accumulative total dust, the gene polymorphism and smoking were observed (P > 0.05).
FAS-1377, FAS-670 and FASL-844 polymorphisms are not susceptible factors of silicosis. The FAS-1377G/-670G haplotype might be a susceptibility marker of silicosis.
探讨FAS和FASL基因多态性与矽肺遗传易感性的关系。
进行病例对照研究。病例组为183例男性矽肺患者，对照组为111例接触二氧化硅但未患矽肺的男性矿工。收集总粉尘浓度数据以估计每个受试者的累积总粉尘暴露量（CTE），并通过问卷调查获取每个人的特征和工作史。应用聚合酶链反应限制性片段长度多态性技术（PCR-RFLP）检测FAS - 1377、FAS - 670和FASL - 844的单核苷酸多态性（SNP）。分析多态性与矽肺风险及分期之间的关联、多态性之间的相互作用、多态性与CTE及吸烟之间的相互作用以及单倍型。
病例组与对照组在FAS - 1377、FAS - 670和FASL - 844基因型上无差异（P>0.05）。未观察到FAS - 1377、FAS - 670和FASL - 844多态性与矽肺及分期之间的关联（P>0.05）。病例组中FAS - 1377G/-670G单倍型的频率（9.6%）高于对照组（3.6%）（P<0.05）。未观察到不同基因多态性之间、基因多态性与总累积粉尘、基因多态性与吸烟之间的相互作用（P>0.05）。
FAS - 1377、FAS - 670和FASL - 844多态性不是矽肺的易感因素。FAS - 1377G/-670G单倍型可能是矽肺的一个易感标志物。
