Association of five genetic variants with chronic obstructive pulmonary disease susceptibility and spirometric phenotypes in a Chinese Han population
Jing Yang
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Contributed equally to this study.Search for more papers by this authorHaixia Zhou
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Contributed equally to this study.Search for more papers by this authorBinmiao Liang
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorJun Xiao
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorZhiguang Su
Department of Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorHong Chen
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorChunlan Ma
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorDengxue Li
Department of Respiratory Medicine, The Second People's Hospital of Hongya County, Meishan, Sichuan Province, China
Search for more papers by this authorYulin Feng
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorCorresponding Author
Xuemei Ou
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Correspondence: Xuemei Ou, Department of Respiratory Medicine, West China Hospital, Sichuan University, 37# Guo-xue-xiang, Chengdu 610041, Sichuan Province, China. Email: [email protected]Search for more papers by this authorJing Yang
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Contributed equally to this study.Search for more papers by this authorHaixia Zhou
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Contributed equally to this study.Search for more papers by this authorBinmiao Liang
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorJun Xiao
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorZhiguang Su
Department of Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorHong Chen
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorChunlan Ma
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorDengxue Li
Department of Respiratory Medicine, The Second People's Hospital of Hongya County, Meishan, Sichuan Province, China
Search for more papers by this authorYulin Feng
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Search for more papers by this authorCorresponding Author
Xuemei Ou
Department of Respiratory Medicine, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Correspondence: Xuemei Ou, Department of Respiratory Medicine, West China Hospital, Sichuan University, 37# Guo-xue-xiang, Chengdu 610041, Sichuan Province, China. Email: [email protected]Search for more papers by this authorAbstract
Background and objective
Recent genome-wide association studies have shown associations between variants at five loci (TNS1, GSTCD, HTR4, AGER and THSD4) and chronic obstructive pulmonary disease (COPD) or lung function. However, their association with COPD has not been proven in Chinese Han population, nor have COPD-related phenotypes been studied. The objective of this study was to look for associations between five single nucleotide polymorphisms (SNP) in these novel candidate genes and COPD susceptibility or lung function in a Chinese Han population.
Methods
Allele and genotype data on 680 COPD patients and 687 healthy controls for sentinel SNP in these five loci were investigated. Allele frequencies and genotype distributions were compared between cases and controls, and odds ratios were calculated. Potential relationships between these SNP and COPD-related lung function were assessed.
Results
No significant associations were found between any of the SNP and COPD in cases and controls. The SNP (rs3995090) in HTR4 was associated with COPD (adjusted P = 0.022) in never-smokers, and the SNP (rs2070600) in AGER was associated with forced expiratory volume in 1 s (FEV1%) predicted (β = −0.066, adjusted P = 0.016) and FEV1/forced vital capacity (β = −0.071, adjusted P = 0.009) in all subjects.
Conclusions
The variant at HTR4 was associated with COPD in never-smokers, and the SNP in AGER was associated with pulmonary function in a Chinese Han population.
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