Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferensReport as inadecuate

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Journal of Clinical Bioinformatics

, 4:11

First Online: 21 August 2014Received: 15 April 2014Accepted: 24 July 2014DOI: 10.1186-2043-9113-4-11

Cite this article as: Xu, X., Zheng, J., Liao, Q. et al. J Clin Bioinform 2014 4: 11. doi:10.1186-2043-9113-4-11


AimsThe aim of our study was to evaluate the relationship between four CFTR variations and the congenital bilateral absence of the vas deferens CBAVD.

MethodsA 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.

ResultsOur 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.

ConclusionIn 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.

KeywordsCongenital bilateral absence of the vas deferens Meta-analysis CFTR gene 5T ΔF508 M470V AbbreviationsSNPSingle nucleotide polymorphism

CBAVDCongenital bilateral absence of the vas deferens

CFCystic fibrosis

OROdds ratio

95% CI95% confidence interval

IInconsistency index.

Electronic supplementary materialThe online version of this article doi:10.1186-2043-9113-4-11 contains supplementary material, which is available to authorized users.

Xuting Xu, Jufen Zheng contributed equally to this work.

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Author: Xuting Xu - Jufen Zheng - Qi Liao - Huiqing Zhu - Hongyan Xie - Huijuan Shi - Shiwei Duan


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