CCR5-?32 is deleterious in the homozygous state in humans.
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ABSTRACT:
SUBMITTER: Wei X
PROVIDER: S-EPMC6613792 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Publications
CCR5-∆32 is deleterious in the homozygous state in humans.
Nature medicine 20190603 6
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. ...[more]
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