Big Data Institute, Li Ka Shing Centre for Health Information Discovery, University of Oxford, Oxford, UK.
Leverhulme Centre for Demographic Science, University of Oxford, Oxford, UK.
Nat Genet. 2023 Aug;55(8):1413-1420. doi: 10.1038/s41588-023-01439-2. Epub 2023 Jul 13.
The trait of participating in a genetic study probably has a genetic component. Identifying this component is difficult as we cannot compare genetic information of participants with nonparticipants directly, the latter being unavailable. Here, we show that alleles that are more common in participants than nonparticipants would be further enriched in genetic segments shared by two related participants. Genome-wide analysis was performed by comparing allele frequencies in shared and not-shared genetic segments of first-degree relative pairs of the UK Biobank. In nonoverlapping samples, a polygenic score constructed from that analysis is significantly associated with educational attainment, body mass index and being invited to a dietary study. The estimated correlation between the genetic components underlying participation in UK Biobank and educational attainment is estimated to be 36.6%-substantial but far from total. Taking participation behaviour into account would improve the analyses of the study data, including those of health traits.
参与遗传研究的特征可能具有遗传成分。由于我们不能直接比较参与者和非参与者的遗传信息，而后者是不可用的，因此很难确定这个成分。在这里，我们表明，与非参与者相比，在参与者中更为常见的等位基因在两个相关参与者共享的遗传片段中会进一步富集。通过比较英国生物银行一级亲属对共享和非共享遗传片段的等位基因频率，进行了全基因组分析。在非重叠样本中，从该分析构建的多基因评分与受教育程度、体重指数和被邀请参加饮食研究显著相关。估计 UK Biobank 参与遗传基础和受教育程度之间的遗传成分相关性约为 36.6%——虽然很大，但远非全部。考虑参与行为将提高对研究数据的分析，包括健康特征的分析。
