ArticlePLoS genetics2010
The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.
Article in PLoS genetics, 2010. 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, 28 citations in OpenAlex.
- Identified five variants in CFTR gene that alter RNA splicing by minigene assay.Frontiers in genetics · 2025Article
- Congenital Bilateral Absence of the Vas Deferens.Frontiers in genetics · 2022Review
- Whole-Exome Sequencing IdentifiedFrontiers in genetics · 2021Article
- Mutations of the cystic fibrosis transmembrane conductance regulator gene in males with congenital bilateral absence of the vas deferens: Reproductive implications and genetic counseling (Review).Molecular medicine reports · 2020Review
- Antagonistic Pleiotropy in Human Disease.Journal of molecular evolution · 2020Review
- Article
- Expression Quantitative Trait Locus Mapping Studies in Mid-secretory Phase Endometrial Cells Identifies HLA-F and TAP2 as Fecundability-Associated Genes.PLoS genetics · 2016Article
- Discovery of Genetic Variation on Chromosome 5q22 Associated with Mortality in Heart Failure.PLoS genetics · 2016Article
- Meta-analyses of 4 CFTR variants associated with the risk of the congenital bilateral absence of the vas deferens.Journal of clinical bioinformatics · 2014Article
- A population-based study of autosomal-recessive disease-causing mutations in a founder population.American journal of human genetics · 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
- Article
- Genome-wide association study identifies candidate genes for male fertility traits in humans.American journal of human genetics · 2012Article
- Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.Annals of Saudi medicineArticle
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
Although little is known about the role of the cystic fibrosis transmembrane regulator (CFTR) gene in reproductive physiology, numerous variants in this gene have been implicated in etiology of male infertility due to congenital bilateral absence of the vas deferens (CBAVD). Here, we studied the fertility effects of three CBAVD-associated CFTR polymorphisms, the (TG)m and polyT repeat polymorphisms in intron 8 and Met470Val in exon 10, in healthy men of European descent. Homozygosity for the Met470 allele was associated with lower birth rates, defined as the number of births per year of marriage (P = 0.0029). The Met470Val locus explained 4.36% of the phenotypic variance in birth rate, and men homozygous for the Met470 allele had 0.56 fewer children on average compared to Val470 carrier men. The derived Val470 allele occurs at high frequencies in non-African populations (allele frequency = 0.51 in HapMap CEU), whereas it is very rare in African population (Fst = 0.43 between HapMap CEU and YRI). In addition, haplotypes bearing Val470 show a lack of genetic diversity and are thus longer than haplotypes bearing Met470 (measured by an integrated haplotype score [iHS] of -1.93 in HapMap CEU). The fraction of SNPs in the HapMap Phase2 data set with more extreme Fst and iHS measures is 0.003, consistent with a selective sweep outside of Africa. The fertility advantage conferred by Val470 relative to Met470 may provide a selective mechanism for these population genetic observations.
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