title: CHRNA3 variant for lung cancer is associated with chronic obstructive pulmonary disease in Korea.
abstract: BACKGROUND
  Genome-wide association studies have identified CHRNA3 as a lung cancer and chronic obstructive pulmonary disease (COPD) candidate gene in non-Hispanic Caucasian cohorts. However, there are differences in minor allele frequencies among ethnic groups, and limited data exists for Asian populations.
  
  
  OBJECTIVE
  The aim of this case-control study was to determine whether there is an association between COPD and genetic variation in CHRNA3 in the Korean population. In addition, we investigated the association of CHRNA3 with intermediate disease phenotypes including emphysema and lung function in COPD subjects.
  
  
  METHODS
  Two single-nucleotide polymorphisms (SNPs) in CHRNA3 (rs660652 and rs12910984) were genotyped in 219 COPD subjects registered in the Korean Obstructive Lung Disease cohort study and in 305 control subjects. Volumetric computed tomography was performed in all COPD subjects. Emphysema severity was measured quantitatively by determining the volume fraction of the lung below -950 Hounsfield units. Logistic regression analysis for case-control analysis and linear regression modeling for quantitative analysis were performed using SAS.
  
  
  RESULTS
  This case-control analysis of 219 COPD patients and 305 control participants identified a significant association between an SNP of CHRNA3 (rs12910984) and COPD (p = 0.049). Analysis in COPD subjects revealed that genetic variations were not associated with FEV1. There was no association between SNPs and emphysema severity. However, both SNPs were significantly associated with DLCO.
  
  
  CONCLUSIONS
  Genetic variations in CHRNA3 are associated with COPD in the Korean population.
authors.affiliation: Department of Internal Medicine, Kangwon National University, Chuncheon, South Korea.
authors.forename: Woo Jin
authors.initials: WJ
authors.lastname: Kim
authors.forename: Yeon-Mok
authors.initials: YM
authors.lastname: Oh
authors.forename: Tae-Hyung
authors.initials: TH
authors.lastname: Kim
authors.forename: Ji-Hyun
authors.initials: JH
authors.lastname: Lee
authors.forename: Eun-Kyung
authors.initials: EK
authors.lastname: Kim
authors.forename: Jin Hwa
authors.initials: JH
authors.lastname: Lee
authors.forename: Sang-Min
authors.initials: SM
authors.lastname: Lee
authors.forename: Tae Rim
authors.initials: TR
authors.lastname: Shin
authors.forename: Ho Il
authors.initials: HI
authors.lastname: Yoon
authors.forename: Seong-Yong
authors.initials: SY
authors.lastname: Lim
authors.forename: Sang Do
authors.initials: SD
authors.lastname: Lee
mesh_terms: D000368:Aged; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D015994:Incidence; D008175:Lung Neoplasms / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D029424:Pulmonary Disease, Chronic Obstructive / Q000150:complications* / Q000453:epidemiology / Q000235:genetics; D011978:Receptors, Nicotinic / Q000235:genetics* / Q000378:metabolism; D056910:Republic of Korea / Q000453:epidemiology
chemical_list: D004273:DNA, Neoplasm; D011978:Receptors, Nicotinic