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Nat Med. 2019 Jun;25(6):909-910. doi: 10.1038/s41591-019-0459-6. Epub 2019 Jun 3.

CCR5-∆32 is deleterious in the homozygous state in humans.

Author information

1
Department of Integrative Biology and Statistics, University of California, Berkeley, Berkeley, CA, USA. aprilwei@berkeley.edu.
2
Department of Integrative Biology and Statistics, University of California, Berkeley, Berkeley, CA, USA. rasmus_nielsen@berkeley.edu.
3
Centre for GeoGenetics, University of Copenhagen, Copenhagen, Denmark. rasmus_nielsen@berkeley.edu.

Abstract

We use the genotyping and death register information of 409,693 individuals of British ancestry to investigate fitness effects of the CCR5-∆32 mutation. We estimate a 21% increase in the all-cause mortality rate in individuals who are homozygous for the ∆32 allele. A deleterious effect of the ∆32/∆32 mutation is also independently supported by a significant deviation from the Hardy-Weinberg equilibrium (HWE) due to a deficiency of ∆32/∆32 individuals at the time of recruitment.

PMID:
31160814
PMCID:
PMC6613792
[Available on 2019-12-03]
DOI:
10.1038/s41591-019-0459-6
[Indexed for MEDLINE]

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