No convincing association between genetic markers and respiratory symptoms: results of a GWA study

Respiratory Research

Research

H. Marike Boezen¹  Kim de Jong¹  Judith M. Vonk¹  Xiang Zeng²  Xijin Xu³  Xia Huo⁴ 

[1] Department of Epidemiology, University of Groningen, University Medical Center Groningen, 1 Hanzeplein, 9700RB, Groningen, The Netherlands;Groningen Research Institute for Asthma and COPD (GRIAC), University of Groningen, University Medical Center Groningen, 1 Hanzeplein, 9700RB, Groningen, The Netherlands;Department of Epidemiology, University of Groningen, University Medical Center Groningen, 1 Hanzeplein, 9700RB, Groningen, The Netherlands;Groningen Research Institute for Asthma and COPD (GRIAC), University of Groningen, University Medical Center Groningen, 1 Hanzeplein, 9700RB, Groningen, The Netherlands;Laboratory of Environmental Medicine and Developmental Toxicology, and Provincial Key Laboratory of Infectious Diseases and Molecular Immunopathology, Shantou University Medical College, 22 Xinling Road, 515041, Shantou, China;Laboratory of Environmental Medicine and Developmental Toxicology, and Provincial Key Laboratory of Infectious Diseases and Molecular Immunopathology, Shantou University Medical College, 22 Xinling Road, 515041, Shantou, China;School of Environment, Guangdong Key Laboratory of Environmental Pollution and Health, Guangzhou Key Laboratory of Environmental Exposure and Health, Jinan University, 510632, Guangzhou, China;

关键词: GWAS;    Genetic;    Respiratory symptoms;    General population;    cohorts;   

DOI  :  10.1186/s12931-016-0495-4

 received in 2016-09-29, accepted in 2016-12-17,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundRespiratory symptoms are associated with accelerated lung function decline, and increased hospitalization and mortality rates in the general population. Although several environmental risk factors for respiratory symptoms are known, knowledge on genetic risk factors is lacking. We aim to identify genetic variants associated with respiratory symptoms by genome-wide association (GWA) analyses.MethodsWe conducted the first GWA study on cough, dyspnea and phlegm among 7,976 participants in the LifeLines I cohort and used the LifeLines II cohort (n = 5,260) and the Vlagtwedde-Vlaardingen cohort (n = 1,529) for replication.ResultsWe identified 50 SNPs that were assessed for replication. Rs16918212, located in the alpha-2-macroglobulin pseudogene 1 (A2MP1), was associated with cough in both the identification (odds ratio (OR) = 0.72, p = 5.41 × 10−5) and the meta-analyzed replication cohorts (OR = 0.83, p = 0.033). No other significant replicated associations were found.ConclusionsGiven that only 1 out of 50 SNPs showed significant replication (i.e. 2%) we conclude that we did not find a convincing association between genetic markers and respiratory symptoms. Since, environmental exposures are important risk factors for respiratory symptoms, the next step is to perform a genome-wide interaction (GWI) study to identify genetic susceptibility loci for respiratory symptoms in interaction with known harmful environmental exposures.

【 授权许可】

CC BY   
© The Author(s). 2017