A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci

Pillai, Sreekumar; Ge, Dongliang; Zhu, Guohua; Kong, Xiangyang; Shianna, Kevin V.; Need, Anna C.; Feng, Sheng; Hersh, Craig P.; Bakke, Per; Gulsvik, Amund; Ruppert, Andreas; Carlsen, Karin C. Lødrup; Roses, Allen D.; Anderson, W. J.; Investigators, ICGN; Rennard, Stephen I.; Lomas, David A.; Silverman, Edwin K.; Goldstein, David B.

doi:10.1371/journal.pgen.1000421

articlePLoS GeneticsMar 19, 2009GOLD OA

A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci

SPSreekumar Pillai DGDongliang Ge GZGuohua Zhu XKXiangyang Kong KVKevin V. Shianna

Research Triangle Park Foundation · GlaxoSmithKline (Japan) · +10 more institutions

PubMed

Indexed incrossrefdoajpubmed

Abstract

There is considerable variability in the susceptibility of smokers to develop chronic obstructive pulmonary disease (COPD). The only known genetic risk factor is severe deficiency of alpha(1)-antitrypsin, which is present in 1-2% of individuals with COPD. We conducted a genome-wide association study (GWAS) in a homogenous case-control cohort from Bergen, Norway (823 COPD cases and 810 smoking controls) and evaluated the top 100 single nucleotide polymorphisms (SNPs) in the family-based International COPD Genetics Network (ICGN; 1891 Caucasian individuals from 606 pedigrees) study. The polymorphisms that showed replication were further evaluated in 389 subjects from the US National Emphysema Treatment Trial…

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Topics & keywords

Topics

Keywords

Biology
Pulmonary disease
COPD
Genome-wide association study
Genetics
Identification (biology)
Genetic association
Genome

UN Sustainable Development Goals

Good health and well-being

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