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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.

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