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GWAS Study

Effect of 6p21 region on lung function is modified by smoking: a genome-wide interaction study.

Park B, An J, Kim W et al.

32753590 PubMed ID
GWAS Study Type
11019 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PB
Park B
AJ
An J
KW
Kim W
KH
Kang HY
KS
Koh SB
OB
Oh B
JK
Jung KJ
JS
Jee SH
KW
Kim WJ
CM
Cho MH
SE
Silverman EK
PT
Park T
WS
Won S
Chapter II

Abstract

Summary of the research findings

Smoking is a major risk factor for chronic obstructive pulmonary disease (COPD); however, more than 25% of COPD patients are non-smokers, and gene-by-smoking interactions are expected to affect COPD onset. We aimed to identify the common genetic variants interacting with pack-years of smoking on FEV1/FVC ratios in individuals with normal lung function. A genome-wide interaction study (GWIS) on FEV1/FVC was performed for individuals with FEV1/FVC ratio ≥ 70 in the Korea Associated Resource cohort data, and significant SNPs were validated using data from two other Korean cohorts. The GWIS revealed that rs10947231 and rs8192575 met genome-wide significant levels; For [Formula: see text] the likelihood ratio (LR) test was conducted, and its P values, PLR, for rs10947231 and rs8192575 were 2.23 × 10-12 and 1.18 × 10-8, respectively. Interaction between rs8192575 and smoking is significantly replicated with two additional data (PINT = 0.0454, 0.0131). Expression quantitative trait loci, topologically associated domains, and PrediXcan analyses revealed that rs8192575 is significantly associated with AGER expression. SNPs on the 6p21 region are associated with FEV1/FVC, and the effect of smoking on FEV1/FVC differs among the associated genotypes.

1,140 Korean ancestry former smokers, 1,565 Korean ancestry current smokers, 4,768 Korean ancestry controls

Chapter III

Study Statistics

Key metrics and study information

11019
Total Participants
GWAS
Study Type
Yes
Replicated
65 Korean ancestry former smokers, 592 Korean ancestry current smokers, 2,889 Korean ancestry controls
Replication Participants
East Asian
Ancestry
Republic of Korea
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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