A Functional Polymorphism in the CHRNA3 Gene and Risk of Chronic Obstructive Pulmonary Disease in a Korean Population.
10.3346/jkms.2012.27.12.1536
- Author:
Jae Yeon LEE
1
;
Seung Soo YOO
;
Hyo Gyoung KANG
;
Guang JIN
;
Eun Young BAE
;
Yi Young CHOI
;
Jin Eun CHOI
;
Hyo Sung JEON
;
Jaehee LEE
;
Shin Yup LEE
;
Seung Ick CHA
;
Chang Ho KIM
;
Jae Yong PARK
Author Information
1. Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea. jaeyong@knu.ac.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
CHRNA3;
Pulmonary Disease, Chronic Obstructive;
Polymorphism
- MeSH:
Adult;
Aged;
Alleles;
Asian Continental Ancestry Group/*genetics;
Case-Control Studies;
Female;
Forced Expiratory Volume;
Genotype;
Humans;
Male;
Middle Aged;
Odds Ratio;
*Polymorphism, Single Nucleotide;
Pulmonary Disease, Chronic Obstructive/*genetics/physiopathology;
Receptors, Nicotinic/*genetics;
Republic of Korea;
Risk Factors;
Smoking
- From:Journal of Korean Medical Science
2012;27(12):1536-1540
- CountryRepublic of Korea
- Language:English
-
Abstract:
A genome-wide association study has identified the 15q25 region as being associated with the risk of chronic obstructive pulmonary disease (COPD) in Caucasians. This study intended as a confirmatory assessment of this association in a Korean population. The rs6495309C > T polymorphism in the promoter of nicotinic acetylcholine receptor alpha subunit 3 (CHRNA3) gene was investigated in a case-control study that consisted of 406 patients with COPD and 394 healthy control subjects. The rs6495309 CT or TT genotype was associated with a significantly decreased risk of COPD when compared to the rs6495309 CC genotype (adjusted odds ratio = 0.69, 95% confidence interval = 0.50-0.95, P = 0.023). The effect of the rs6495309C > T on the risk of COPD was more evident in moderate to very severe COPD than in mild COPD under a dominant model for the variant T allele (P = 0.024 for homogeneity). The CHRNA3 rs6495309C > T polymorphism on chromosome 15q25 is associated with the risk of COPD in a Korean population.
