DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Response to bronchodilator in chronic obstructive pulmonary disease (change in FEV1). The EFO term FEV change measurement, response to bronchodilator, chronic obstructive pulmonary disease was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: FEV change measurement, response to bronchodilator, chronic obstructive pulmonary disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

M Hardin, MH Cho, ML McDonald, E Wan, DA Lomas, HO Coxson, W MacNee, J Vestbo, JC Yates, A Agusti, PM Calverley, B Celli, C Crim, S Rennard, E Wouters, P Bakke, SP Bhatt, V Kim, J Ramsdell, EA Regan, BJ Make, JE Hokanson, JD Crapo, TH Beaty, CP Hersh

TITLE:

A genome-wide analysis of the response to inhaled β2-agonists in chronic obstructive pulmonary disease.

JOURNAL:

The pharmacogenomics journal 08 2016, Vol 16, pp. 326-35

ABSTRACT:

Short-acting β2-agonist bronchodilators are the most common medications used in treating chronic obstructive pulmonary disease (COPD). Genetic variants determining bronchodilator responsiveness (BDR) in COPD have not been identified. We performed a genome-wide association study (GWAS) of BDR in 5789 current or former smokers with COPD in one African-American and four white populations. BDR was defined as the quantitative spirometric response to inhaled β2-agonists. We combined results in a meta-analysis. In the meta-analysis, single-nucleotide polymorphisms (SNPs) in the genes KCNK1 (P=2.02 × 10(-7)) and KCNJ2 (P=1.79 × 10(-7)) were the top associations with BDR. Among African Americans, SNPs in CDH13 were significantly associated with BDR (P=5.1 × 10(-9)). A nominal association with CDH13 was identified in a gene-based analysis in all subjects. We identified suggestive association with BDR among COPD subjects for variants near two potassium channel genes (KCNK1 and KCNJ2). SNPs in CDH13 were significantly associated with BDR in African Americans.The Pharmacogenomics Journal advance online publication, 27 October 2015; doi:10.1038/tpj.2015.65. PUBMED: 26503814
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