膜联蛋白A5—1C／T基因多态性与煤工尘肺易感性

Annexin A5 gene polymorphism （-1C/T） and the susceptibility to pneumoconiosis in coal works

目的探讨AnnexinA5基因多态性（-1C/T）在煤工尘肺患者发病遗传易感性中的作用。方法采用病例一对照研究方法，选择470例汉族煤丁尘肺病例为观察对象，428例汉族煤尘接触者为对照，应用聚合酶链反应-限制性片段长度多态性（PCR—RFLP）检测AnnexinA5．1C／T位点的基因多态性，分析多态位点与煤_r尘肺的关系。结果煤T尘肺组与对照组各基因型分布频率差异无统计学意义（P〉0．05）。调整年龄及吸烟混杂因素后，以CC基因型为参比，粉尘暴露时间较长（≥27年）且携带CT／TT基因型者患煤工尘肺的危险性降低（P=0．039），OR值为0．65（95％C1：0．44～0．98）；对Ⅱ期煤工尘肺病例，调整了年龄、接尘工龄和吸烟率后，携带CT/TT等位基因的个体患煤工尘肺的危险性降低（P=0．028），OR值为O．55（95％CI：0．34～O．90）。结论hnnexinA5．1C/T多态性位点可能影响中国汉族人群煤工尘肺的发生。

Objective To explore the role of-I C/T single nucleotide polymorphism within Annexin A5 gene in the genetic susceptibility to coal worker＇s pneumoconiosis （CWP）. Methods Four hundred and seventy CWP Han chinese patients and 428 Han chinese controls were enclosed in present case-control study. All subjects were exposed to coal dusts. The polymerase chain reaction-restriction tagment length polymorphism （PCR-RFLP） was used to detect the -1C/T SNP in Annexin Aft gene for all subjects. The relationship between the -1C/T SNP in Annexin A5 gene and CWP was analyzed. Results CT/TT genotype in -1C/T SNP was associated with a significantly decreased risk of CWP, as compared with the CC genotype among subgroups exposed to coal dusts for ≥27 years （adjusted 0R=0.65, 95%CI： 0.44-0.98, P=0.039） and patients with CWP at stage Ⅱ（adjusted 0R=0.55, 95%CI： 0.34-0.90, P=0.028）. Conclusion The results of present study suggest that the Annexin A5 -1C/T polymorphism may be involved in the development of CWP in Han Chinese coal miners.