J Korean Med Sci.  2012 Dec;27(12):1536-1540. 10.3346/jkms.2012.27.12.1536.

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

• Lee JY
• Yoo SS
• Kang HG
• Jin G
• Bae EY
• Choi YY
• Choi JE
• Jeon HS
• Lee J
• Lee SY
• Cha SI
• Kim CH
• Park JY

• KMID: 2157978
• DOI: http://doi.org/10.3346/jkms.2012.27.12.1536

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.

Keyword

CHRNA3; Pulmonary Disease, Chronic Obstructive; Polymorphism

MeSH Terms

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
Receptors, Nicotinic

Figure

• 

  Fig. 1 Reconstructed linkage disequilibrium (LD) plot using potentially functional single nucleotide polymorphisms with minor allele frequency ≥ 5% from HapMap JPT data in the CHRNA5/CHRNA3 locus. The black boxes indicate strong LD (confidence interval for strong LD: upper 0.98, low 0.7; fraction of strong LD in informative comparisons must be at least 0.95). The white boxes indicate strong recombination (upper confidence interval maximum 0.9). The triangles indicate haplotype blocks. The numbers in the squares are |D'| (× 100) values. Vertical bold arrow indicates the CHRNA3 rs6495309 location.

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