rs10281281
This is a intron variant variant in the CFTR gene.
▶Research that mentions this SNP (1)
▶Common CFTR gene variants influence body composition and survival in rural GhanaAssociationN=4,230Kuningas M. et al.(2010)· Human Genetics
A cross-sectional study of 4,230 rural Ghanaians tested whether CFTR gene variants confer heterozygote advantage for survival. The authors identified six common CFTR haplotypes through genotyping of 30 SNPs. Two haplotypes showed differential frequency between young and elderly participants (global p = 6.00 × 10⁻⁵): haplotype 1 was depleted in the elderly (p = 0.041) and associated with lower weight and height in children (p_trend = 0.020 and 0.010), while haplotype 5 was enriched in the elderly (p = 0.003). The study found additive effects of haplotype alleles but no evidence for heterozygote advantage.
About CFTR
This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]
View all CFTR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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