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CCR5-del32 is not deleterious in the homozygous state in humans

By Patrick Sulem, Daniel F. Gudbjartsson, Nina J Mars, Juha Karjalainen, Samuli Ripatti, Aarno Palotie, Kari Stefansson, Mark Daly

Posted 02 Oct 2019
bioRxiv DOI: 10.1101/788117

Recently, Wei and Nielsen (Nature Medicine 2019) reported an analysis of UK Biobank data which suggested that the well-known HIV-protective variant CCR5-del32 is associated with a 21% increase in all-cause mortality. We demonstrate, using two well-powered population samples in Iceland and Finland with extensive health data and death information, neither an effect on mortality nor increase in risk of any disease. Further reexamination of the UK Biobank (UKBB) data suggests that the very modest association was with a SNP of poor genotyping quality - at a nearby proxy SNP, no statistically significant impact on mortality nor deviation from Hardy-Weinberg equilibrium exists in the UKBB sample. We thus find no evidence of any meaningful risk of increased mortality from homozygosity of CCR5-del32.

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