CCR5-del32 is not deleterious in the homozygous state in humans
Sulem, P.; Gudbjartsson, D.; Mars, N.; Karjalainen, J.; Ripatti, S.; Palotie, A.; Stefansson, K.; Daly, M. J.
Show abstract
Recently, Wei and Nielsen1 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.
Matching journals
The top 5 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Cohort Profile: East London Genes & Health (ELGH), a community based population genomics and health study in people of British-Bangladeshi and -Pakistani heritage. 92%
- The Causal Effects of Health Conditions and Risk Factors on Social and Socioeconomic Outcomes: Mendelian Randomization in UK Biobank 91%
- Educational attainment as a modifier of the effect of polygenic scores for cardiovascular risk factors: cross-sectional and prospective analysis of UK Biobank 90%
Similar papers in this journal
- A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk 93%
- Within-family studies for Mendelian randomization: avoiding dynastic, assortative mating, and population stratification biases 92%
- Regionally enriched rare deleterious exonic variants in the UK and Ireland 92%
Similar papers in this journal
Similar papers in this journal
- Identification of actionable genetic variants in 4,198 Scottish volunteers from the Viking Genes research cohort and implementation of return of results 93%
- Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity 92%
- The Phenotype-Genotype Reference Map: Improving biobank data science through replication. 92%
Similar papers in this journal
- An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease 92%
- Clinical case study meets population cohort: Identification of a BRCA1 pathogenic founder variant in Orcadians 92%
- A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity 91%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.