Chen Congcong, Wang Lijuan, Yang Jingjin, Wang Ting, Ji Xiaoming, Wu Baiqun, Han Ruhui, Ni Chunhui
Department of Occupational Medicine and Environmental Health, School of Public Health, Nanjing Medical University, Nanjing 210029, China.
Department of Occupational Medicine and Environmental Health, School of Public Health, Nanjing Medical University, Nanjing 210029, China; E-mail:
Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi. 2015 Jul;33(7):492-5.
To explore whether the tagging single nucleotide polymorphisms (SNPs) within EPHX1 gene were involved in the genetic susceptibility to coal worker's pneumoconiosis (CWP) by case-control study.
This study consisted of 697 CWP patients and 694 controls. All the subjects were Han Chinese, underground coal miners and recruited from coal mines of Xuzhou Mining Business Group Co Ltd.. The venous blood samples were obtained from all subjects and extracted genome DNA from the isolated leucocytes. Three SNPs were selected from the HapMap and the genotyping was done by the TaqMan method with the ABI 7900HT Real Time PCR system.
The Single SNP analyses showed that the genotype frequencies of EPHX1 (rs2234922) was significantly associated with decreased risk of CWP under co-dominant model (OR = 0.22, 95% CI = 0.060.79, P = 0.020), recessive model (OR = 0.23, 95% CI = 0.060.82, P = 0.023), and addictive model (OR = 0.75, 95% CI = 0.580.96, P = 0.022). The further stratification analysis showed that the risk of CWP will significantly decreased in non-smoking groups (OR = 0.10, 95% CI = 0.010.83, P = 0.033).
Our results suggest that individuals with the EPHX1 (rs223492) GG genotype was associated with a dereased risk of CWP, and it has a protective effect on the developing CWP.
通过病例对照研究,探讨EPHX1基因中的标签单核苷酸多态性(SNP)是否与煤工尘肺(CWP)的遗传易感性有关。
本研究纳入697例CWP患者和694例对照。所有受试者均为汉族地下煤矿工人,来自徐州矿业集团有限公司的煤矿。采集所有受试者的静脉血样本,从分离的白细胞中提取基因组DNA。从HapMap中选择3个SNP,采用TaqMan方法和ABI 7900HT实时荧光定量PCR系统进行基因分型。
单SNP分析显示,在共显性模型(OR = 0.22,95%CI = 0.060.79,P = 0.020)、隐性模型(OR = 0.23,95%CI = 0.060.82,P = 0.023)和显性模型(OR = 0.75,95%CI = 0.580.96,P = 0.022)下,EPHX1(rs2234922)的基因型频率与CWP风险降低显著相关。进一步的分层分析显示,非吸烟组CWP风险显著降低(OR = 0.10,95%CI = 0.010.83,P = 0.033)。
我们的结果表明,EPHX1(rs223492)GG基因型个体与CWP风险降低相关,对CWP的发生具有保护作用。