Increased homozygosity due to endogamy results in fitness consequences in a human population.

ABSTRACT: Recessive alleles have been shown to directly affect both human Mendelian disease phenotypes and complex traits. Pedigree studies also suggest that consanguinity results in increased childhood mortality and adverse health phenotypes, presumably through penetrance of recessive mutations. Here, we test whether the accumulation of homozygous, recessive alleles decreases reproductive success in a human population. We address this question among the Namibian Himba, an endogamous agro-pastoralist population, who until very recently practiced natural fertility. Using a sample of 681 individuals, we show that Himba exhibit elevated levels of "inbreeding," calculated as the fraction of the genome in runs of homozygosity (F_ROH). Many individuals contain multiple long segments of ROH in th

SUBMITTER: Swinford NA 

PROVIDER: S-EPMC10614605 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature