Institute for Molecular Bioscience, The University of Queensland, QLD 4072, Brisbane, Australia.
Queensland Brain Institute, The University of Queensland, Brisbane, 4072, Australia.
Nat Commun. 2019 Sep 3;10(1):3719. doi: 10.1038/s41467-019-11724-6.
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.
在大多数人类社会中，存在着禁止一级和二级亲属之间交配的禁忌和法律，但实际的流行程度及其对健康和适应性的影响还没有被充分量化。在这里，我们利用来自英国生物库（UKB）的约 45 万欧洲血统参与者的大型观察性研究，来量化极端近亲繁殖（EI）及其后果。我们使用基因分型 SNP 来检测大片段纯合子（ROH），并在个体基因组中 >10% 由 ROH 组成时称为 EI。我们估计 EI 的患病率约为 0.03%，即约 1/3652。EI 病例的表型平均值比人口平均值低 0.3 到 0.7 个标准差，这与从小程度近亲繁殖的个体中估计的近交衰退一致。我们的研究提供了在英国一个欧洲血统样本中 EI 流行程度的基于 DNA 的量化，并测量了它对健康和适应性特征的影响。
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