Department of Internal Medicine, Kyungpook National University Hospital, Daegu, Korea.
J Korean Med Sci. 2009 Dec;24(6):1119-25. doi: 10.3346/jkms.2009.24.6.1119. Epub 2009 Nov 9.
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.
许多全基因组连锁分析已经确定 2q33.3-2q37.2 区域最有可能包含导致慢性阻塞性肺疾病（COPD）易感性的基因。有人假设，位于 2q33.3-2q37.2 区域的基因之一 SERPINE2 基因可能作为 COPD 的低外显率易感基因。为了检验这一假设，在一项 311 例 COPD 患者和 386 例对照的病例对照研究中，研究了 SERPINE2 四个单核苷酸多态性（SNP；rs16865421A>G、rs7583463A>C、rs729631C>G 和 rs6734100C>G）与 COPD 风险的关联。在多态性等位基因的显性模型中，SNP rs16865421 与 COPD 的风险显著降低相关（调整后的优势比[OR]=0.66，95%置信区间[CI]=0.45-0.97，P=0.03）。在单体型分析中，与携带多态性等位基因的 AACC 单体型相比，携带 rs16865421 多态性等位基因的 GACC 单体型与 COPD 的风险显著降低相关（调整后的 OR=0.58，95% CI=0.38-0.89，P=0.01），并且这种影响在年轻个体中更为明显（调整后的 OR=0.30，95% CI=0.14-0.64，P=0.002）。本研究表明 SERPINE2 基因与 COPD 的易感性有关。
