SERPINE2 Polymorphisms and Chronic Obstructive Pulmonary Disease.
10.3346/jkms.2009.24.6.1119
- Author:
Seung Ick CHA
1
;
Hyo Gyoung KANG
;
Jin Eun CHOI
;
Min Jung KIM
;
Jaeho PARK
;
Won Kee LEE
;
Chang Ho KIM
;
Tae Hoon JUNG
;
Jae Yong PARK
Author Information
1. Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea. jaeyong@knu.ac.kr
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Serpine2;
Polymorphism;
Pulmonary Disease, Chronic Obstructive
- MeSH:
Amyloid beta-Protein Precursor/*genetics;
*Genetic Predisposition to Disease;
Genome-Wide Association Study;
Genotype;
Haplotypes;
Humans;
Linkage (Genetics);
Male;
Middle Aged;
*Polymorphism, Single Nucleotide;
Pulmonary Disease, Chronic Obstructive/*genetics/pathology;
Questionnaires;
Receptors, Cell Surface/*genetics
- From:Journal of Korean Medical Science
2009;24(6):1119-1125
- CountryRepublic of Korea
- Language:English
-
Abstract:
A number of genome-wide linkage analyses have identified the 2q33.3-2q37.2 region as most likely to contain the genes that contribute to the susceptibility to chronic obstructive pulmonary disease (COPD). It was hypothesized that the SERPINE2 gene, which is one of the genes located at the 2q33.3-2q37.2 region, may act as a low-penetrance susceptibility gene for COPD. To test this hypothesis, the association of four SERPINE2 single nucleotide polymorphisms (SNPs; rs16865421A>G, rs7583463A>C, rs729631C>G, and rs6734100C>G) with the risk of COPD was investigated in a case-control study of 311 COPD patients and 386 controls. The SNP rs16865421 was associated with a significantly decreased risk of COPD in a dominant model for the polymorphic allele (adjusted odds ratio [OR]=0.66, 95% confidence interval [CI]=0.45-0.97, P=0.03). In haplotype analysis, the GACC haplotype carrying the polymorphic allele at the rs16865421 was associated with a significantly decreased risk of COPD when compared to the AACC haplotype (adjusted OR=0.58, 95% CI=0.38-0.89, P=0.01), and this effect was evident in younger individuals (adjusted OR=0.30, 95% CI=0.14-0.64, P=0.002). This study suggests that the SERPINE2 gene contributes to the susceptibility to COPD.
