Observational studyNature communications2019
Extreme inbreeding in a European ancestry sample from the contemporary UK population.
Observational study in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts.American journal of human genetics · 2023Pooled it
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Deviations from genetic additivity driven by rare variants at biobank scale.Nature communications · 2026Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Familial Searching utilising the National Forensic DNA Database of South Africa (NFDD-ZA) to aid in the identification of Missing Persons and Unidentified Human Remains.Forensic science international. Synergy · 2025Article
- Inbreeding and deleterious variation in South Asian populations.Scientific reports · 2025Article
- Genetic architecture reconciles linkage and association studies of complex traits.Nature genetics · 2024Article
- Discovery of runs-of-homozygosity diplotype clusters and their associations with diseases in UK Biobank.eLife · 2024Article
- The impact of the Turkish population variome on the genomic architecture of rare disease traits.Genetics in medicine open · 2024Article
- Increased homozygosity due to endogamy results in fitness consequences in a human population.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Article
- Analysis of genetic dominance in the UK Biobank.Science (New York, N.Y.) · 2023Article
- Examination of runs of homozygosity in relation to height in an endogamous Namibian population.American journal of biological anthropology · 2023Article
- Parent-offspring inference in inbred populations.Molecular ecology resources · 2022Article
- The effect of inbreeding, body size and morphology on health in dog breeds.Canine medicine and genetics · 2021Article
- Genomic partitioning of inbreeding depression in humans.American journal of human genetics · 2021Article
- Article
- The value of genomic relationship matrices to estimate levels of inbreeding.Genetics, selection, evolution : GSE · 2021Article
- Obelisc: an identical-by-descent mapping tool based on SNP streak.Bioinformatics (Oxford, England) · 2021Article
- Intragenic Deletions inGenes · 2021Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
In most human societies, there are taboos and laws banning mating between first- and second-degree relatives, but actual prevalence and effects on health and fitness are poorly quantified. Here, we leverage a large observational study of ~450,000 participants of European ancestry from the UK Biobank (UKB) to quantify extreme inbreeding (EI) and its consequences. We use genotyped SNPs to detect large runs of homozygosity (ROH) and call EI when >10% of an individual's genome comprise ROHs. We estimate a prevalence of EI of ~0.03%, i.e., ~1/3652. EI cases have phenotypic means between 0.3 and 0.7 standard deviation below the population mean for 7 traits, including stature and cognitive ability, consistent with inbreeding depression estimated from individuals with low levels of inbreeding. Our study provides DNA-based quantification of the prevalence of EI in a European ancestry sample from the UK and measures its effects on health and fitness traits.
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