ArticleJournal of medical genetics1998
Linkage disequilibrium between the M470V variant and the IVS8 polyT alleles of the CFTR gene in CBAVD.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 56 citations in OpenAlex.
- SLC9A3 Affects Vas Deferens Development and Associates with Taiwanese Congenital Bilateral Absence of the Vas Deferens.BioMed research international · 2019Article
- Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis.BMC medical genomics · 2018Article
- Loss of SLC9A3 decreases CFTR protein and causes obstructed azoospermia in mice.PLoS genetics · 2017Article
- The magnitude of ivacaftor effects on fluid secretion via R117H-CFTR channels: Human in vivo measurements.PloS one · 2017Article
- The CFTR M470V, intron 8 poly-T, and 8 TG-repeats detection in Chinese males with congenital bilateral absence of the vas deferens.BioMed research international · 2014Article
- Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.Journal of clinical bioinformatics · 2014Article
- Association of cystic fibrosis transmembrane conductance regulator gene variants with acute lung injury in African American children with pneumonia*.Critical care medicine · 2012Article
- The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens.Asian journal of andrology · 2012Article
- The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.PLoS genetics · 2010Article
- A haplotype framework for cystic fibrosis mutations in Iran.The Journal of molecular diagnostics : JMD · 2006Article
- The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era.The Clinical biochemist. Reviews · 2005Article
- Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign.American journal of human genetics · 2004Article
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Authors and funding
6 authors.
Funding
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Abstract
Congenital bilateral absence of the vas deferens (CBAVD) is a cause of male sterility mostly resulting from mutations in the cystic fibrosis transmembrane regulator (CFTR) gene. The most common defect is the 5T variant at the branch/acceptor site of intron 8, which induces high levels of exon 9 skipping leading to non-functional protein. However, this 5T variant has incomplete penetrance and variable expressivity, suggesting that some other regulatory factors may modulate the splicing of exon 9. To identify such factors, we report here the genetic analysis of a polymorphic locus, M470V, located in exon 10 of the CFTR gene in 60 patients with CBAVD, compared to a normal control population. The statistical analysis showed strong linkage disequilibrium between the 5T allele and the V allele of the M470V polymorphism in the CBAVD population, but not in the normal population. The V allele in a gene carrying 5T could, however, contribute to lowering the level of normal transcripts, as already suggested by in vitro transcriptional studies. These genetic findings, together with previous studies, suggest involvement of the M470V variant in the modulation of the splicing of exon 9 of the CFTR gene.
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