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CCR5-Δ32 is deleterious in the homozygous state in humans

We use the genotyping and death register information of 409,693 British individuals to investigate fitness effects of the CCR5-Δ32 mutation. We estimate that individuals homozygous for the Δ32 allele have a 21% increase in all-cause mortality rate. A deleterious effect of the Δ32/Δ32 mutation is als...

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Detalles Bibliográficos
Autores principales: Wei, Xinzhu, Nielsen, Rasmus
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613792/
https://www.ncbi.nlm.nih.gov/pubmed/31160814
http://dx.doi.org/10.1038/s41591-019-0459-6
Descripción
Sumario:We use the genotyping and death register information of 409,693 British individuals to investigate fitness effects of the CCR5-Δ32 mutation. We estimate that individuals homozygous for the Δ32 allele have a 21% increase in all-cause mortality rate. A deleterious effect of the Δ32/Δ32 mutation is also independently supported by a significant deviation from Hardy-Weinberg equilibrium due to a deficiency of Δ32/Δ32 individuals at the time of recruitment.