The Functional Copy Number Variation-67048 in WWOX Contributes to Increased Risk of COPD in Southern and Eastern Chinese
The Functional Copy Number Variation-67048 in WWOX Contributes to Increased Risk of COPD in Southern and Eastern Chinese
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WWOX 中的功能性拷贝数变异 67048 导致中国南方和东部地区 COPD 风险增加
DOI：
10.3109/15412555.2014.948993
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发表时间：
2015-09
影响因子：
2.2
通讯作者：
Lu Jiachun
中科院分区：
文献类型：
--
作者：
Yang Lei;Qiu Fuman;Fang Wenxiang;Zhang Lisha;Xie Chenli;Lu Xiaoxiao;Huang Dongsheng;Guo Yuan;Pan Mingan;Zhang Haibo;Zhou Yifeng;Lu Jiachun
摘要近年来研究发现，含WW结构域的氧化还原酶（WWOX）基因的遗传变异是影响肺功能的遗传因素，反映WWOX基因可能是以肺功能低下为特征的慢性阻塞性肺疾病（COPD）的易感因素。我们先前已经表明WWOX的拷贝数变异-67048（CNV-67048）与肺癌风险相关。在此，我们假设CNV-67048影响COPD易感性。基于一项两阶段的病例对照研究，共1791例COPD患者和1940名中国南方和东部的对照，我们发现CNV-67048的缺失基因型（0拷贝和1拷贝）与常见的2拷贝基因型相比，COPD的风险显著增加，比值比（OR）为1.29（1.11-1.49）。缺失基因型携带者的1秒前用力呼气量（pre-FEV 1）与前用力肺活量（pre-FVC）之比（0.729 ± 0.130）显著低于2拷贝基因型携带者（0.747 ± 0.124; p = 7.93 × 10−5）。而缺失基因型与2拷贝基因型携带者的前FEV 1、前FVC及前FEV 1年下降率差异无统计学意义。WWOX人群CNV-67048基因缺失型易患COPD，可能是预测中国人COPD发病风险的一个遗传生物标志物。
Abstract Recent studies have recognized the genetic variants in the WW domain-containing oxidoreductase (WWOX) gene as genetic determinants of lung function, reflecting that the WWOX gene may be a susceptible factor of chronic obstructive pulmonary disease (COPD), which characters as poor lung function. We have previously showed that the copy number variation-67048 (CNV-67048) of WWOX was associated with lung cancer risk. Here, we hypothesized that the CNV-67048 affects COPD susceptibility. Based on a two-stage case-control study with a total of 1791 COPD patients and 1940 controls of southern and eastern Chinese, we found that the loss genotypes (0-copy and 1-copy) of CNV-67048 harbored a significantly increased risk of COPD, with an odds ratio (OR) as 1.29 (1.11–1.49) when compared with the common 2-copy genotype. The pre-forced expiratory volume in one second (pre-FEV1) to pre-forced vital capacity (pre-FVC) of carriers with loss genotypes (0.729 ± 0.130) was significantly lower than carriers with 2-copy genotype (0.747 ± 0.124; p = 7.93 × 10−5). However, no significant difference was observed on pre-FEV1, pre-FVC and the annual decline of pre-FEV1 between the loss genotypes and 2-copy genotype carriers. Our data suggest that the loss genotypes of CNV-67048 in WWOX predispose their carriers to COPD, which might be a genetic biomarker to predict risk of COPD in Chinese.
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影响因子：
3.5
作者：
Cho, Michael H.;Castaldi, Peter J.;Silverman, Edwin K.
通讯作者：
Silverman, Edwin K.
DOI：
10.1016/b978-012373960-5.00335-x
发表时间：
2008
期刊：
--
影响因子：
--
作者：
C. Mathers
通讯作者：
C. Mathers
DOI：
10.1164/ajrccm/136.5.1073
发表时间：
1987-11
期刊：
The American review of respiratory disease
影响因子：
--
作者：
Buist As
通讯作者：
Buist As
DOI：
10.1016/s0197-2456(98)00037-3
发表时间：
1998-12-01
期刊：
CONTROLLED CLINICAL TRIALS
影响因子：
--
作者：
Dupont, WD;Plummer, WD
通讯作者：
Plummer, WD
影响因子：
4.8
作者：
Chang, NS;Pratt, N;Zevotek, N
通讯作者：
Zevotek, N