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目的探讨FAS/FASL基因多态性在煤工尘肺患者发病遗传易感性中的作用及其与煤工尘肺纤维化程度的联系。方法选择340例汉族煤工尘肺为观察对象,312例汉族煤尘接触者为对照组,应用多聚酶链反应-限制片段多态性(PCR-RFLP)技术检测FAS-1377G>A、FAS-670A>G位点及FASL-844T>C位点的基因多态性。结果煤工尘肺组FAS-1377、FAS-670及FASL-844各基因及等位基因分布频率与对照组比较,差异无统计学意义(P>0.05)。以接尘工龄≥25年为对照,工龄<25年的煤工尘肺患者FAS-1377GA/AA型者发生尘肺的危险性是GG型的1.463倍(P=0.098,95%CI:0.932～2.298);FAS-670AG型发生尘肺的危险性是GG型者的1.494倍(P=0.098,95%CI:0.928～2.404);FASL- 844 TT型和TC型发生尘肺的危险性分别是CC型的5.455倍(P=0.039,95%CI:1.088～27.358)及1.338倍(P=0.098,95%CI:0.852～2.101)。接尘工龄<25年FASL-844基因分布频率和工龄≥25年比较,差异有统计学意义(P<0.05),FASL-844TT型发生煤工尘肺的危险性是CC/TC型的4.810倍(P=0.054,95%CI:0.971～23.833);接尘工龄≥25年为对照,工龄<25年组FASL-844 TF/CT+FAS-1377GA型发生煤工尘肺的危险性是FASL-844CC+FAS.1377GG型的1.810倍;FASL-844TF/CT+FAS-670AG型是FASD-844CC+ FAS-670AA型的2.117倍;FASL-844TT/CT+FAS-1377GA/AA+FAS-670AG/GG型发生煤工尘肺的危险性是FASL-844CC+FAS-1377GG+FAS-670AA型的2.043倍。结论FAS-1377G>A、FAS-670A>G及FASL- 844T>C 3个位点的基因多态性在中国汉族煤工尘肺发病的遗传易感性中不起主要作用,但这3个多态性位点及位点的联合作用对病变的发展有影响。
Objective To investigate the role of FAS / FASL polymorphism in genetic susceptibility to coal worker’s pneumoconiosis and its relationship with coal worker’s pneumoconiosis. METHODS: A total of 340 Chinese Han workers with pneumoconiosis were selected as the observation subjects. 312 Han Chinese coal dust contact persons were selected as the control group. FAS-1377G> A and FAS-670A> A were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) G and FASL-844T> C loci. Results The distribution frequencies of FAS-1377, FAS-670 and FASL-844 genes in coal worker’s pneumoconiosis group were not significantly different from those in control group (P> 0.05). The risk of pneumoconiosis in FAS-1377GA / AA patients with coal-worker pneumoconiosis <25 years, whose occupational age was 25 years, was 1.463 times that of GG type (P = 0.098, 95% CI: 0.932-2.298) ; The risk of pneumoconiosis in FAS-670AG was 1.494 times higher than those in GG (P = 0.098, 95% CI: 0.928-2.404); the risk of pneumoconiosis in FASL-844 TT and TC was 5.455 (P = 0.039, 95% CI: 1.088-27.358) and 1.338 folds (P = 0.098, 95% CI: 0.852-2.101). The frequency of FASL-844 genotype distribution in the 25-year follow-up period was statistically significant (P <0.05), and the risk of coal worker’s pneumoconiosis in the FASL-844TT model was 4.810 times more than that of the CC / TC genotype P = 0.054, 95% CI: 0.971 ~ 23.833). The incidence of coal worker’s pneumoconiosis in FASL-844 TF / CT + FAS- FASL-844TF / CT + FAS-670AG was 2.117 times that of FASD-844CC + FAS-670AA; FASL-844TT / CT + FAS-1377GA / AA + FAS-670AG / GG was The risk of worker’s pneumoconiosis is 2.043 times that of FASL-844CC + FAS-1377GG + FAS-670AA. Conclusion The genetic polymorphisms of FAS-1377G> A, FAS-670A> G and FASL-844T> C can not play a major role in the genetic susceptibility to pneumoconiosis in Chinese Han population. However, these three polymorphisms The combined effect of sexual loci and loci has an impact on the development of the lesion.