Abstract
PurposeCFTR variant is the main genetic contributor to congenital (unilateral/bilateral) absence of the vas deferens (CAVD/CUAVD/CBAVD). We performed a systematic review to elucidate the genetic link between CFTR variants, CUAVD, and the associated risk of renal abnormality (RA).MethodsWe searched relevant databases for eligible articles reporting CFTR variants in CUAVD. The frequency of CFTR variants and RA, and the odds ratios (ORs) for common alleles and RA risk, were pooled under random-/fixed-effect models. Subgroup analyses and heterogeneity tests were performed.ResultsTwenty-three studies were included. Among CUAVD patients, 46% had at least one CFTR variant, with 27% having one and 5% having two. The allele frequency in CUAVD was 4% for F508del and 9% for 5T. The summary OR for 5T risk in CUAVD was 5.79 compared with normal controls and 2.82 compared with non-CAVD infertile males. The overall incidence of RA was 22% in CUAVD. The pooled OR for RA risk among CUAVD patients was 4.85 compared with CBAVD patients.ConclusionCFTR variants are common in CUAVD, and the 5T allele may be associated with increased CUAVD risk. CUAVD patients bear a higher RA risk than CBAVD patients, but this is not associated with CFTR variants.
Highlights
Congenital absence of the vas deferens (CAVD) is a common urological disease probably caused by defects of the Wolffian ducts and contributing to obstructive azoospermia (OA).[1]CAVD is classified into three subtypes: congenital bilateral absence of the vas deferens (CBAVD), congenital unilateral absence of the vas deferens (CUAVD), and congenital bilateral partial aplasia of the vas deferens (CPAVD).[2]
We found that publication bias accounted for all instances of asymmetry except for in the case of the pooled CFTR frequency among CUAVD patients with two variants, indicating that other factors may be involved (Supplementary Fig. S17A–E)
Under a fixed-effect model, the pooled OR for 5T among CUAVD patients was 5.79 compared with normal controls and 2.82 compared with non-CAVD males
Summary
CAVD is classified into three subtypes: congenital bilateral absence of the vas deferens (CBAVD), congenital unilateral absence of the vas deferens (CUAVD), and congenital bilateral partial aplasia of the vas deferens (CPAVD).[2]. CUAVD, with a prevalence of 0.5–1.0% in males, is usually discovered during evaluations for infertility or surgical procedures of the male genitalia.[4]. The incidence of CUAVD could be underestimated due to the possibility of pregnancy due to normal function of the other vas deferens.[5]. Most CAVD patients are compound heterozygotes with different mutant alleles, and about 43% of CUAVD patients carry at least one CFTR variant according to previous reports.[7].
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