title: A functional polymorphism in the CHRNA3 gene and risk of chronic obstructive pulmonary disease in a Korean population.
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.
authors.affiliation: Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
authors.forename: Jae Yeon
authors.initials: JY
authors.lastname: Lee
authors.forename: Seung Soo
authors.initials: SS
authors.lastname: Yoo
authors.forename: Hyo-Gyoung
authors.initials: HG
authors.lastname: Kang
authors.forename: Guang
authors.initials: G
authors.lastname: Jin
authors.forename: Eun Young
authors.initials: EY
authors.lastname: Bae
authors.forename: Yi Young
authors.initials: YY
authors.lastname: Choi
authors.forename: Jin Eun
authors.initials: JE
authors.lastname: Choi
authors.forename: Hyo-Sung
authors.initials: HS
authors.lastname: Jeon
authors.forename: Jaehee
authors.initials: J
authors.lastname: Lee
authors.forename: Shin Yup
authors.initials: SY
authors.lastname: Lee
authors.forename: Seung-Ick
authors.initials: SI
authors.lastname: Cha
authors.forename: Chang Ho
authors.initials: CH
authors.lastname: Kim
authors.forename: Jae Yong
authors.initials: JY
authors.lastname: Park
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005541:Forced Expiratory Volume; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics* / Q000503:physiopathology; D011978:Receptors, Nicotinic / Q000235:genetics*; D056910:Republic of Korea; D012307:Risk Factors; D012907:Smoking
chemical_list: D011978:Receptors, Nicotinic