The rs2609255 polymorphism in the FAM13A gene is reproducibly associated with silicosis susceptibility in a Chinese population

被引：17

作者：

Wang, Wei ^{[1
,2
]}

Yu, Yuhui ^{[1
]}

Wu, Shuangshuang ^{[3
]}

Sang, Lingli ^{[1
]}

Wang, Xiaohui ^{[1
]}

Qiu, Anni ^{[1
]}

Yu, Xiaoqiao ^{[1
]}

Li, Jingzhi ^{[1
]}

Zhang, Lu ^{[1
]}

Yi, Min ^{[1
]}

Zheng, Huiting ^{[1
]}

Gao, Yuexia ^{[1
]}

Xiao, Jing ^{[1
]}

Lu, Yihua ^{[1
]}

Jiang, Liying ^{[1
]}

Lian, Yulong ^{[1
]}

Zhuang, Xun ^{[1
]}

Tian, Tian ^{[1
]}

Chu, Minjie ^{[1
]}

机构：

[1] Nantong Univ, Sch Publ Hlth, 9 Seyuan Rd, Nantong, Jiangsu, Peoples R China

[2] Ctr Dis Control & Prevent Wuxi, Dept Occupat Hlth, Wuxi, Peoples R China

[3] Nanjing Med Univ, Affiliated Hosp 1, Dept Geriatr, Jiangsu Prov Key Lab Geriatr, Nanjing, Jiangsu, Peoples R China

来源：

GENE | 2018年 / 661卷

基金：

中国国家自然科学基金; 美国国家卫生研究院;

关键词：

FAM13A; rs2609255; Silicosis; Interaction; GENOME-WIDE ASSOCIATION; OBSTRUCTIVE PULMONARY-DISEASE; WNT/BETA-CATENIN PATHWAY; LUNG-FUNCTION; FIBROSIS; LOCI; DIFFERENTIATION; INHIBITION; CELLS; COPD;

D O I：

10.1016/j.gene.2018.03.098

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Background: Two recent genome-wide association studies (GWASs) reported that the FAM13A gene at the 4q22 locus associated with pulmonary fibrosis (defined by rs2609255) overlapping with COPD (defined by rs6837671). We hypothesized that single-nucleotide polymorphisms (SNPs) related to lung disease (especially pulmonary fibrosis) identified in this region are also associated with the risk of silicosis. Methods: To test this hypothesis, we genotyped these two SNPs (rs2609255 and rs6837671) in a case-control study including 177 silicosis cases and 204 controls with silica dust exposure years similar to the levels for cases in a Chinese population. Results: We found that rs2609255 was significantly associated with increased silicosis risk (dominant model: OR = 1.71; 95% CI = 1.01-2.92; P = 0.047). Additionally, eQTL analysis based on the GTEx database indicated that the rs2609255 polymorphism may alter the expression level of FAM13A in lung tissues (P = 1.8 x 10(-4)). Furthermore, interaction analyses showed that rs2609255 interacts multiplicatively with years of silica dust exposure to contribute to silicosis risk (interaction P = 0.040). Conclusions: These results indicate that rs2609255 may modify silicosis susceptibility in the Chinese population.

引用

页码：196 / 201

页数：6

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