CCR5-∆32 is deleterious in the homozygous state in humans.
retrospective_cohort · Level III
Where this comes from
- Record sourced from PubMed, PMID 31160814.
- Also identified by DOI 10.1038/s41591-019-0459-6 and PMC identifier 6613792.
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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.
Medical subject headings
- Homozygote
- Mutation
- Receptors, CCR5