对4种与先天性双侧输精管缺如风险相关的CFTR变异体的荟萃分析。
Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.
作者信息
Xu Xuting, Zheng Jufen, Liao Qi, Zhu Huiqing, Xie Hongyan, Shi Huijuan, Duan Shiwei
机构信息
Zhejiang Provincial Key Laboratory of Pathophysiology, School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, China.
China National Population and Family Planning Key Laboratory of Contraceptive Drugs and Devices, SIPPR, Fudan University, Shanghai 200032, China.
出版信息
J Clin Bioinforma. 2014 Aug 21;4:11. doi: 10.1186/2043-9113-4-11. eCollection 2014.
AIMS
The aim of our study was to evaluate the relationship between four CFTR variations and the congenital bilateral absence of the vas deferens (CBAVD).
METHODS
A systematic search was performed in the literature databases for the case-control studies of CFTR variations with the risk of CBAVD. A total of 29 studies among 1139 controls and 1562 CBAVD patients were gathered for the meta-analyses of three commonly tecsted variations (5T, ΔF508 and M470V) with CBAVD.
RESULTS
Our meta-analyses observed significant associations between CBAVD and all the three variations, including 5T (P < 0.001, OR = 8.35, 95% CI = 6.68-10.43), M470V (P = 0.027, OR = 0.74, 95% CI = 0.60-0.91) and ΔF508 (P < 0.001, OR = 22.20, 95% CI = 7.49-65.79).
CONCLUSION
In the current study, we demonstrated a significant association between CFTR variations and CBAVD. Our results showed that the 5T variation was a risk factor of CBAVD in French, Spanish, Japanese, Chinese, Iranian, Indian, Mexican and Egyptian populations. CFTR ΔF508 was another important risk factor in Caucasians, including Slovenians, Canadians, Iranians, and Egyptians. In addition, M470V was a protective factor among French, Chinese, Italian and Iranian populations.
目的
本研究旨在评估四种囊性纤维化跨膜传导调节因子（CFTR）变异与先天性双侧输精管缺如（CBAVD）之间的关系。
方法
在文献数据库中系统检索关于CFTR变异与CBAVD风险的病例对照研究。共收集了1139名对照和1562名CBAVD患者的29项研究，用于对三种常见检测变异（5T、ΔF508和M470V）与CBAVD进行荟萃分析。
结果
我们的荟萃分析观察到CBAVD与所有三种变异之间均存在显著关联，包括5T（P < 0.001，OR = 8.35，95%CI = 6.68 - 10.43）、M470V（P = 0.027，OR = 0.74，95%CI = 0.60 - 0.91）和ΔF508（P < 0.001，OR = 22.20，95%CI = 7.49 - 65.79）。
结论
在本研究中，我们证明了CFTR变异与CBAVD之间存在显著关联。我们的结果表明，在法国、西班牙、日本、中国、伊朗、印度、墨西哥和埃及人群中，5T变异是CBAVD的一个风险因素。CFTR ΔF508是包括斯洛文尼亚人、加拿大人、伊朗人和埃及人在内的高加索人群中的另一个重要风险因素。此外，在法国、中国、意大利和伊朗人群中，M470V是一个保护因素。
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