Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Finnish Institute for Health and Welfare, Helsinki, Finland.
Nat Med. 2022 Sep;28(9):1893-1901. doi: 10.1038/s41591-022-01957-2. Epub 2022 Sep 12.
The impact of genetic variation on overall disease burden has not been comprehensively evaluated. We introduce an approach to estimate the effect of genetic risk factors on disability-adjusted life years (DALYs; 'lost healthy life years'). We use genetic information from 735,748 individuals and consider 80 diseases. Rare variants had the highest effect on DALYs at the individual level. Among common variants, rs3798220 (LPA) had the strongest individual-level effect, with 1.18 DALYs from carrying 1 versus 0 copies. Being in the top 10% versus the bottom 90% of a polygenic score for multisite chronic pain had an effect of 3.63 DALYs. Some common variants had a population-level effect comparable to modifiable risk factors such as high sodium intake and low physical activity. Attributable DALYs vary between males and females for some genetic exposures. Genetic risk factors can explain a sizable number of healthy life years lost both at the individual and population level.
遗传变异对总体疾病负担的影响尚未得到全面评估。我们引入了一种估计遗传风险因素对伤残调整生命年（DALYs；“丧失的健康生命年”）影响的方法。我们使用了来自 735748 个人的遗传信息，并考虑了 80 种疾病。罕见变异在个体层面上对 DALYs 的影响最大。在常见变异中，rs3798220（LPA）在个体层面上的影响最强，携带 1 份而非 0 份拷贝的 DALYs 增加了 1.18 个。与多部位慢性疼痛的多基因评分处于前 10%与后 90%相比，DALYs 增加了 3.63 个。一些常见变异在人群水平上的影响可与高钠摄入和低体力活动等可改变的风险因素相媲美。对于某些遗传暴露，归因于 DALYs 在男性和女性之间存在差异。遗传风险因素可以解释个体和人群层面上大量丧失的健康生命年。
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