CCR5-∆32 is deleterious in the homozygous state in humans.
- Author(s): Wei, Xinzhu
- Nielsen, Rasmus
- et al.
Published Web Locationhttps://doi.org/10.1038/s41591-019-0459-6
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.