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胱天蛋白酶8(CASP8)启动子区域的一个六核苷酸插入缺失多态性与煤工尘肺的发病风险相关。

A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with risk of coal workers' pneumoconiosis.

作者信息

Ni Chunhui, Ye Yang, Wang Meilin, Qian Haiyang, Song Zhifang, Jia Xiaomin, Zhou Jianwei

机构信息

Departments of Occupational Medicine and Environmental Health, School of Public Health, Nanjing Medical University, Nanjing, China.

出版信息

J Toxicol Environ Health A. 2009;72(11-12):712-6. doi: 10.1080/15287390902841102.

DOI:10.1080/15287390902841102
PMID:19492233
Abstract

Coal workers' pneumoconiosis (CWP) is a chronic interstitial lung disease with a complex etiology that can occur after cumulative dust exposure. A case-control study was conducted to test the hypothesis that single-nucleotide polymorphisms (SNP) within CASPASE-8 (CASP8) promoter involved in resolution of inflammatory processes modulate the risk of CWP development. The study population consisted of 619 underground coal miners in the 5 coal mines of Xuzhou Mining Business Group Co. Ltd., China, of whom 315 were diagnosed with CWP. The association study between CASP8 -652 6N ins/del polymorphism with CWP by multiple logistic regression analysis showed a significant association of the genotype del/del with CWP compared with to ins/ins genotypes, and showed that the risk was significantly higher for stage I CWP. Further analysis showed that in subjects with the del/del genotype there was significantly increased risk for CWP occurrence among younger individuals (<66 yr) or those with longer duration dust exposure (>or=26 yr). These findings suggested that CASP8-652 6N ins/del polymorphism may contribute to the genetic susceptibility for CWP development.

摘要

煤工尘肺(CWP)是一种慢性间质性肺疾病,病因复杂,累积接触粉尘后可能发病。开展了一项病例对照研究,以检验以下假设:参与炎症过程消退的半胱天冬酶8(CASP8)启动子内的单核苷酸多态性(SNP)可调节CWP发生风险。研究人群包括中国徐州矿业集团有限公司5个煤矿的619名井下煤矿工人,其中315人被诊断为CWP。通过多因素逻辑回归分析对CASP8 -652 6N插入/缺失多态性与CWP进行关联研究,结果显示,与插入/插入基因型相比,缺失/缺失基因型与CWP存在显著关联,且I期CWP的风险显著更高。进一步分析表明,在缺失/缺失基因型个体中,年龄较小(<66岁)或粉尘接触时间较长(≥26年)的个体发生CWP的风险显著增加。这些发现提示,CASP8-652 6N插入/缺失多态性可能与CWP发生的遗传易感性有关。

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