Research press release


Nature Communications

Genetics: Inbreeding and associated health outcomes


今回、Loic Yengoたちの研究グループは、英国バイオバンクに登録された45万6414人の匿名化データを用いて、極端な近親交配、つまり第一度近親者間(例:親子間)と第二度近親者間[例:異父(異母)兄弟姉妹間]の交配の存在状況を推定した。この推定は、ホモ接合連続領域(ROH;両親からそれぞれ受け継いだと考えられる同じ対立遺伝子のそろった状態が連続するゲノム領域)に基づいて行われ、これが一定数の健康転帰に関連するかどうかの検討も行われた。



Insights into inbreeding and its potential effects on health are presented in an analysis published in Nature Communications.

Loic Yengo and colleagues estimated the prevalence of extreme inbreeding - mating between first- and second-degree relatives (for example, parents and their offspring or half - siblings) - using anonymized data from 456,414 individuals in the UK Biobank. The authors did so based on runs of homozygosity (identical stretches of the genome that must have been inherited from both mother and father) and tested whether this was associated with a number of health outcomes.

Among the participants included in the study, the authors found 125 individuals whose genetic data suggested that they were offspring of first- or second-degree relatives. The authors also found that in this cohort, extreme inbreeding was associated with negative health consequences, such as reduced lung function, visual acuity or cognitive function, which confirms previous findings. In addition, they showed that offspring resulting from inbreeding had a general higher risk of disease.

The authors note that the data have to be interpreted with caution because of the small number of extreme inbreeding cases and the likely recruitment bias in the UK Biobank (proportionally, participants in the UK Biobank tend to be healthier and have a higher level of education than the rest of the population).

doi: 10.1038/s41467-019-11724-6

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