SynthesisGenetics in medicine : official journal of the American College of Medical Genetics2019
CFTR variants and renal abnormalities in males with congenital unilateral absence of the vas deferens (CUAVD): a systematic review and meta-analysis of observational studies.
Synthesis in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 31 citations in OpenAlex.
- The role of CFTR in spermatogenesis and sperm quality.Nature reviews. Urology · 2026Review
- Novel Candidate Genes Identified in Men with Congenital Absence of Vas Deferens without CFTR Gene Abnormalities.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Review
- Seminal vesicle status and its association with semen parameters in congenital bilateral absence of the vas deferens (CBAVD).Basic and clinical andrology · 2025Article
- An overview of CFTR mutation profiles and assisted reproductive technology outcomes in Chinese patients with congenital obstructive azoospermia.Journal of assisted reproduction and genetics · 2024Article
- Congenital absence of the vas deferens with hypospadias or without hypospadias: Phenotypic findings and genetic considerations.Frontiers in genetics · 2022Article
- Congenital Bilateral Absence of the Vas Deferens.Frontiers in genetics · 2022Review
- [Cystic fibrosis being a polyendocrine disease (Review)].Problemy endokrinologii · 2021Review
- Genetics ofTranslational andrology and urology · 2021Review
- Genetics of the congenital absence of the vas deferens.Human genetics · 2021Review
- Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD.Molecular genetics & genomic medicine · 2020Article
- A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens.Journal of assisted reproduction and genetics · 2019Article
- Clinical features and microsurgical reconstruction of congenital unilateral absence of the vas deferens with obstructive azoospermia: a tertiary care center experience.Asian journal of andrologyArticle
- Article
Corrections and comments
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Authors and funding
7 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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