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Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.

ABSTRACT: 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, ?F508 and M470V) with CBAVD. RESULTS:Our meta-analyses observed significant associations between CBAVD and all the three variations, including 5T (P?

SUBMITTER: Xu X

PROVIDER: S-EPMC4147875 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.

Xu Xuting X Zheng Jufen J Liao Qi Q Zhu Huiqing H Xie Hongyan H Shi Huijuan H Duan Shiwei S

Journal of clinical bioinformatics 20140821

<h4>Aims</h4>The aim of our study was to evaluate the relationship between four CFTR variations and the congenital bilateral absence of the vas deferens (CBAVD).<h4>Methods</h4>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.<h4>Results</h4>O ...[more]

PMID: 25170420

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Loss-of-function <i>CFTR</i> p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis.

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| S-EPMC9295469 | biostudies-literature

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