title: SERPINE2 polymorphisms and chronic obstructive pulmonary disease.
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.
authors: Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea.
authors: Seung Ick
authors: SI
authors: Cha
authors: Hyo-Gyoung
authors: HG
authors: Kang
authors: Jin Eun
authors: JE
authors: Choi
authors: Min Jung
authors: MJ
authors: Kim
authors: Jaeho
authors: J
authors: Park
authors: Won Kee
authors: WK
authors: Lee
authors: Chang Ho
authors: CH
authors: Kim
authors: Tae Hoon
authors: TH
authors: Jung
authors: Jae Yong
authors: JY
authors: Park
mesh_terms: D016564:Amyloid beta-Protein Precursor / Q000235:genetics*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D058255:Protease Nexins; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics* / Q000473:pathology; D011956:Receptors, Cell Surface / Q000235:genetics*; D058258:Serpin E2; D011795:Surveys and Questionnaires
chemical_list: D016564:Amyloid beta-Protein Precursor; D058255:Protease Nexins; D011956:Receptors, Cell Surface; C545486:SERPINE2 protein, human; D058258:Serpin E2