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 Chronic obstructive pulmonary disease. The EFO term 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: chronic obstructive pulmonary disease

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

MH Cho, PJ Castaldi, ES Wan, M Siedlinski, CP Hersh, DL Demeo, BE Himes, JS Sylvia, BJ Klanderman, JP Ziniti, C Lange, AA Litonjua, D Sparrow, EA Regan, BJ Make, JE Hokanson, T Murray, JB Hetmanski, SG Pillai, X Kong, WH Anderson, R Tal-Singer, DA Lomas, HO Coxson, LD Edwards, W MacNee, J Vestbo, JC Yates, A Agusti, PM Calverley, B Celli, C Crim, S Rennard, E Wouters, P Bakke, A Gulsvik, JD Crapo, TH Beaty, EK Silverman

TITLE:

A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.

JOURNAL:

Human molecular genetics Feb 2012, Vol 21, pp. 947-57

ABSTRACT:

The genetic risk factors for chronic obstructive pulmonary disease (COPD) are still largely unknown. To date, genome-wide association studies (GWASs) of limited size have identified several novel risk loci for COPD at CHRNA3/CHRNA5/IREB2, HHIP and FAM13A; additional loci may be identified through larger studies. We performed a GWAS using a total of 3499 cases and 1922 control subjects from four cohorts: the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE); the Normative Aging Study (NAS) and National Emphysema Treatment Trial (NETT); Bergen, Norway (GenKOLS); and the COPDGene study. Genotyping was performed on Illumina platforms with additional markers imputed using 1000 Genomes data; results were summarized using fixed-effect meta-analysis. We identified a new genome-wide significant locus on chromosome 19q13 (rs7937, OR = 0.74, P = 2.9 × 10(-9)). Genotyping this single nucleotide polymorphism (SNP) and another nearby SNP in linkage disequilibrium (rs2604894) in 2859 subjects from the family-based International COPD Genetics Network study (ICGN) demonstrated supportive evidence for association for COPD (P = 0.28 and 0.11 for rs7937 and rs2604894), pre-bronchodilator FEV(1) (P = 0.08 and 0.04) and severe (GOLD 3&4) COPD (P = 0.09 and 0.017). This region includes RAB4B, EGLN2, MIA and CYP2A6, and has previously been identified in association with cigarette smoking behavior. PUBMED: 22080838
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