title: Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in Chinese Han population.
abstract: Currently, the majority of genetic association studies on chronic obstructive pulmonary disease (COPD) risk focused on identifying the individual effects of single nucleotide polymorphisms (SNPs) as well as their interaction effects on the disease. However, conventional genetic studies often use binary disease status as the primary phenotype, but for COPD, many quantitative traits have the potential correlation with the disease status and closely reflect pathological changes.
  
  
  
  Here, we genotyped 44 SNPs from four genes (EPHX1, GSTP1, SERPINE2, and TGFB1) in 310 patients and 203 controls which belonged to the Chinese Han population to test the two-way and three-way genetic interactions with COPD-related quantitative traits using recently developed generalized multifactor dimensionality reduction (GMDR) and quantitative multifactor dimensionality reduction (QMDR) algorithms.
  
  
  
  Based on the 310 patients and the whole samples of 513 subjects, the best gene-gene interactions models were detected for four lung-function-related quantitative traits. For the forced expiratory volume in 1 s (FEV1), the best interaction was seen from EPHX1, SERPINE2, and GSTP1. For FEV1%pre, the forced vital capacity (FVC), and FEV1/FVC, the best interactions were seen from SERPINE2 and TGFB1.
  
  
  
  The results of this study provide further evidence for the genotype combinations at risk of developing COPD in Chinese Han population and improve the understanding on the genetic etiology of COPD and COPD-related quantitative traits.
authors.affiliation: Beijing Key Laboratory of Respiratory and Pulmonary Circulation Disorders, Beijing Institute of Respiratory Medicine, Department of Respiratory and Critical Care Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, 100020, China.
authors.forename: Li
authors.initials: L
authors.lastname: An
authors.affiliation: Beijing Key Laboratory of Respiratory and Pulmonary Circulation Disorders, Beijing Institute of Respiratory Medicine, Department of Respiratory and Critical Care Medicine, Beijing Chao-Yang Hospital, Capital Medical University, Beijing, 100020, China.
authors.forename: Yingxiang
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Department of Respiratory and Critical Care Medicine, China-Japan Friendship Hospital, Beijing, 100029, China.
authors.forename: Ting
authors.initials: T
authors.lastname: Yang
authors.affiliation: School of Biomedical Engineering, Capital Medical University, Beijing, 100069, China. hualin7750@ccmu.edu.cn.|Beijing Key Laboratory of Fundamental Research on Biomechanics in Clinical Application, School of Biomedical Engineering, Capital Medical University, Beijing, 100069, China. hualin7750@ccmu.edu.cn.
authors.forename: Lin
authors.initials: L
authors.lastname: Hua
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People; D016022:Case-Control Studies; D004843:Epistasis, Genetic; D004851:Epoxide Hydrolases / Q000235:genetics*; D005541:Forced Expiratory Volume; D053263:Gene Regulatory Networks; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D051549:Glutathione S-Transferase pi / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008957:Models, Genetic; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D040641:Quantitative Trait Loci; D058258:Serpin E2 / Q000235:genetics*; D053773:Transforming Growth Factor beta1 / Q000235:genetics*
chemical_list: C545486:SERPINE2 protein, human; D058258:Serpin E2; C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1; C496556:GSTP1 protein, human; D051549:Glutathione S-Transferase pi; D004851:Epoxide Hydrolases; C522330:EPHX1 protein, human
keywords: COPD; Interaction; MDR; Quantitative traits; SNP