Absence of association between SERPINE2 genetic polymorphisms and chronic obstructive pulmonary disease in Han Chinese: a case-control cohort study.
Absence of association between SERPINE2 genetic polymorphisms and chronic obstructive pulmonary disease in Han Chinese: a case-control cohort study.
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DOI：
10.1186/1471-2350-10-66
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发表时间：
2009-07-16
影响因子：
--
通讯作者：
Zhang YP
中科院分区：
文献类型：
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作者：
Zhong L;Fu WP;Sun C;Dai LM;Zhang YP
最近的研究表明丝氨酸蛋白酶抑制剂E2（SERPINE 2）是白种人慢性阻塞性肺疾病（COPD）的一个新的易感基因。然而，这一问题仍然存在争议。来自不同环境和/或遗传背景的人群（如东亚人）的其他证据将有助于阐明这一问题。在这项研究中，SERPINE 2中的5个可能的致病SNPs在327名COPD患者和349名对照中进行了基因分型，所有这些患者和对照均来自中国西南地区的汉族人群。每个SNP的频率在患者和对照组之间进行单独和组合比较。还研究了这些SNP与COPD严重程度之间的潜在关系。3个SNPs（rs3795877、rs6747096和rs3795879）显示完全连锁不平衡（r2 = 1），病例组和对照组的次要等位基因频率分别为13.0%和12.9%，差异无统计学意义（P = 0.96）。我们也未能观察到这些SNP与COPD严重程度之间存在任何显着相关性（P = 0.67）。另外两个SNPs（rs7579646和rs 840088）也呈现类似的模式。此外，在我们的样本中观察到四种主要的单倍型，但病例组和对照组之间均无显著差异（P > 0.1）。我们的研究结果未能获得SERPINE 2中这些SNPs与中国汉族人群COPD易感性相关的证据。
Recent studies have proposed that the serine protease inhibitor E2 (SERPINE2) was a novel susceptibility gene for chronic obstructive pulmonary disease (COPD) in Caucasians. However, this issue still remained controversial. Additional evidences from populations with different environments and/or genetic backgrounds, such as East Asian, would be helpful to elucidate the issue. In this study, five proposed causal SNPs in SERPINE2 were genotyped in 327 COPD patients and 349 controls, all of which belonged to the Han population sampled from Southwest China. The frequency of each SNP was compared both individually and in combination between patients and controls. The potential relationship between these SNPs and severity of COPD was also investigated. Three SNPs (rs3795877, rs6747096, and rs3795879) showed complete linkage disequilibrium (r2 = 1), and the minor allele frequencies were 13.0% and 12.9% in case and control cohorts, respectively, with no significant difference observed (P = 0.96). We also failed to observe any significant correlation between these SNPs and COPD severity (P = 0.67). The other two SNPs (rs7579646 and rs840088) also presented a similar pattern. Moreover, four major haplotypes were observed in our sample but none showed a significant difference between case and control groups (P > 0.1). Our results failed to obtain the evidence that these SNPs in SERPINE2 contributed to the COPD susceptibility in the Han Chinese population.