Liu Yi, Yang Jingjin, Wu Qiuyun, Han Ruhui, Yan Weiwen, Yuan Jiali, Ji Xiaoming, Li Yan, Yao Wenxi, Ni Chunhui
Key Laboratory of Modern Toxicology of Ministry of Education, Department of Occupational Medicine and Environmental Health, School of Public Health, Nanjing Medical University, Nanjing 211166, China.
Int J Environ Res Public Health. 2017 Sep 27;14(10):1138. doi: 10.3390/ijerph14101138.
The lipopolysaccharide (LPS)-responsive beige-like anchor protein (LRBA) is a member of the WDL-BEACH-WD (WBW) gene family. Defects in this gene are associated with the disordered autoimmunity in various diseases, including pulmonary fibrosis. In this study, we investigated the association between the functional polymorphisms in and risk of coal workers' pneumoconiosis (CWP) in a Chinese population. Three potentially functional polymorphisms (rs2290846, rs3749574, and rs1782360) in were genotyped and analyzed in a case-control study, including 703 CWP cases and 705 controls. Genotyping was performed by the ABI 7900HT Real Time PCR system. Our results suggested that genotype rs2290846 AA was significantly associated with decreased risk of CWP (Adjusted OR = 0.61, 95% CI = 0.41-0.92), and the recessive model also supported the protective role of the genotype (Adjusted OR = 0.60, 95% CI = 0.40-0.89). Further, the polymorphism of rs2290846 decreased the CWP risk among cases over 27 years of dust exposure (adjusted OR = 0.51, 95% CI = 0.28-0.94) and non-smokers (adjusted OR = 0.58, 95% CI = 0.34-1.00). A potential role of rs2290846 AA has been proposed by expression quantitative trait loci (eQTL) and The Cancer Genome Atlas (TCGA). The present results suggest that SNPs are associated with CWP susceptibility in a Chinese population. Further studies focused on detailed mechanism or larger cohorts are warranted to validate our findings.
脂多糖（LPS）反应性米色样锚定蛋白（LRBA）是WDL-BEACH-WD（WBW）基因家族的成员。该基因的缺陷与包括肺纤维化在内的多种疾病中的自身免疫紊乱有关。在本研究中，我们调查了中国人群中该基因功能多态性与煤工尘肺（CWP）风险之间的关联。在一项病例对照研究中，对该基因的三个潜在功能多态性（rs2290846、rs3749574和rs1782360）进行基因分型和分析，包括703例CWP病例和705例对照。采用ABI 7900HT实时荧光定量PCR系统进行基因分型。我们的结果表明，基因型rs2290846 AA与CWP风险降低显著相关（校正OR = 0.61，95%CI = 0.41-0.92），隐性模型也支持该基因型的保护作用（校正OR = 0.60，95%CI = 0.40-0.89）。此外，rs2290846的多态性降低了接触粉尘超过27年的病例（校正OR = 0.51，95%CI = 0.28-0.94）和非吸烟者（校正OR = 0.58，95%CI = 0.34-1.00）的CWP风险。表达数量性状位点（eQTL）和癌症基因组图谱（TCGA）提出了rs2290846 AA的潜在作用。目前的结果表明，该基因单核苷酸多态性与中国人群的CWP易感性相关。有必要进行进一步的研究，聚焦于详细机制或更大规模的队列，以验证我们的发现。
