A Functional Polymorphism in the CHRNA3 Gene and Risk of Chronic Obstructive Pulmonary Disease in a Korean Population

作者：Lee Jae Yeon; Yoo Seung Soo; Kang Hyo Gyoung; Jin Guang; Bae Eun Young; Choi Yi Young; Choi Jin Eun; Jeon Hyo Sung; Lee Jaehee; Lee Shin Yup; Cha Seung Ick; Kim Chang Ho; Park Jae Yong^*

来源：Journal of Korean Medical Science, 2012, 27(12): 1536-1540.

DOI：10.3346/jkms.2012.27.12.1536

• CHRNA3
• Pulmonary Disease, Chronic Obstructive
• Polymorphism

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 %26gt; 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 IT 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 %26gt; 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 %26gt; T polymorphism on chromosome 15q25 is associated with the risk of COPD in a Korean population.

• 出版日期2012-12
• 单位延边大学