Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.
Polymorphism of SERPINE2 gene is associated with pulmonary emphysema in consecutive autopsy cases.
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DOI：
10.1186/1471-2350-11-159
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发表时间：
2010-11-10
影响因子：
--
通讯作者：
Sawabe M
中科院分区：
文献类型：
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作者：
Fujimoto K;Ikeda S;Arai T;Tanaka N;Kumasaka T;Ishii T;Kida K;Muramatsu M;Sawabe M
编码抗蛋白酶的SERPINA 1、SERPINA 3和SERPINE 2基因被认为是慢性阻塞性肺疾病（COPD）及其相关表型的易感基因。是否与肺气肿有关尚不清楚。12个先前报道的SERPINA 1单核苷酸多态性（SNPs）（rs 8004738、rs 17751769、rs709932、rs 11832、rs 1303、rs 28929474和rs 17580），SERPINA 3在从1,335例连续尸检的日本老年人中获得的样本中，对SERPINE 2（rs 4934、rs 17473和rs 1800463）和SERPINE 2（rs 840088和rs 975278）进行基因分型。确定这些SNP与肺气肿严重程度之间的关联，如使用肉眼评分评估的。在189名受试者（14.1%）中检测到中度以上的肺气肿，并显示出显著的性别差异（男性，20.5%和女性，7.0%; p < 0.0001）。在检测的12个SNPs中，只有SERPINE 2基因中的rs 975278与肺气肿呈正相关。与主要等位基因不同，rs 975278的纯合次要等位基因与肺气肿相关（比值比（OR）= 1.54; 95%置信区间（CI）= 1.02-2.30; p = 0.037），并且该关联在吸烟者中非常显著（OR = 2.02; 95% CI = 1.29-3.15; p = 0.002）。SERPINE 2可能是肺气肿发生的危险因素，其与肺气肿的相关性在吸烟者中可能更强。
The SERPINA1, SERPINA3, and SERPINE2 genes, which encode antiproteases, have been proposed to be susceptible genes for of chronic obstructive pulmonary disease (COPD) and related phenotypes. Whether they are associated with emphysema is not known. Twelve previously reported single nucleotide polymorphisms (SNPs) in SERPINA1 (rs8004738, rs17751769, rs709932, rs11832, rs1303, rs28929474, and rs17580), SERPINA3 (rs4934, rs17473, and rs1800463), and SERPINE2 (rs840088 and rs975278) were genotyped in samples obtained from 1,335 consecutive autopsies of elderly Japanese people. The association between these SNPs and the severity of emphysema, as assessed using macroscopic scores, was determined. Emphysema of more than moderate degree was detected in 189 subjects (14.1%) and showed a significant gender difference (males, 20.5% and females, 7.0%; p < 0.0001). Among the 12 examined SNPs, only rs975278 in the SERPINE2 gene was positively associated with emphysema. Unlike the major alleles, homozygous minor alleles of rs975278 were associated with emphysema (odds ratio (OR) = 1.54; 95% confidence interval (CI) = 1.02-2.30; p = 0.037) and the association was very prominent in smokers (OR = 2.02; 95% CI = 1.29-3.15; p = 0.002). SERPINE2 may be a risk factor for the development of emphysema and its association with emphysema may be stronger in smokers.