KMID : 0191120120270121536
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Journal of Korean Medical Science 2012 Volume.27 No. 12 p.1536 ~ p.1540
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A Functional Polymorphism in the CHRNA3 Gene and Risk of Chronic Obstructive Pulmonary Disease in a Korean Population
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Lee Jae-Yeon
Yoo Seung-Soo Kang Hyo-Gyoung Jin Guang Bae Eun-Young Choi Yi-Young Choi Jin-Eun Jeon Hyo-Sung Lee Jae-Hee Lee Shin-Yup Cha Seung-Ick Kim Chang-Ho Park Jae-Yong
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Abstract
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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.
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KEYWORD
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CHRNA3, Pulmonary Disease, Chronic Obstructive, Polymorphism
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