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. 2021 Apr;14(2):e003262.
doi: 10.1161/CIRCGEN.120.003262. Epub 2021 Apr 2.

Concordance of a High Polygenic Score Among Relatives: Implications for Genetic Counseling and Cascade Screening

Affiliations

Concordance of a High Polygenic Score Among Relatives: Implications for Genetic Counseling and Cascade Screening

Nicholas J Reid et al. Circ Genom Precis Med. 2021 Apr.
No abstract available

Keywords: cognition; genetics; humans; obesity; phenotype.

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Figures

Figure.
Figure.
Concordance of polygenic scores among related individuals. Two-dimensional correlation heat maps of polygenic scores for coronary artery disease (CAD) between pairs of monozygotic twins (A), siblings (B), and second-degree relatives (C). D, The percentage of individuals with a sibling’s polygenic score above a certain threshold percentage who also share a similarly increased polygenic score for 4 cardiometabolic diseases. Polygenic scores were normalized to have a mean of 0 and SD of 1 as performed previously. Among sibling pairs with discordant disease status, median polygenic score was higher in the afflicted siblings for each of the 4 diseases, with effect ranging from 0.22 to 0.44 SD units (P<0.001 by paired Wilcoxon rank-sum test for each; E).

References

    1. Khera AV, Chaffin M, Aragam KG, Haas ME, Roselli C, Choi SH, Natarajan P, Lander ES, Lubitz SA, Ellinor PT, et al. . Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations. Nat Genet. 2018; 50:1219–1224. doi: 10.1038/s41588-018-0183-z - PMC - PubMed
    1. Khera AV, Chaffin M, Wade KH, Zahid S, Brancale J, Xia R, Distefano M, Senol-Cosar O, Haas ME, Bick A, et al. . Polygenic prediction of weight and obesity trajectories from birth to adulthood. Cell. 2019; 177:587–596.e9. doi: 10.1016/j.cell.2019.03.028 - PMC - PubMed
    1. Khera AV, Chaffin M, Zekavat SM, Collins RL, Roselli C, Natarajan P, Lichtman JH, D’Onofrio G, Mattera J, Dreyer R, et al. . Whole-genome sequencing to characterize monogenic and polygenic contributions in patients hospitalized with early-onset myocardial infarction. Circulation. 2019; 139:1593–1602. doi: 10.1161/CIRCULATIONAHA.118.035658 - PMC - PubMed
    1. Karavani E, Zuk O, Zeevi D, Barzilai N, Stefanis NC, Hatzimanolis A, Smyrnis N, Avramopoulos D, Kruglyak L, Atzmon G, et al. . Screening human embryos for polygenic traits has limited utility. Cell. 2019; 179:1424–1435.e8. doi: 10.1016/j.cell.2019.10.033 - PMC - PubMed
    1. Bycroft C, Freeman C, Petkova D, Band G, Elliott LT, Sharp K, Motyer A, Vukcevic D, Delaneau O, O’Connell J, et al. . The UK Biobank resource with deep phenotyping and genomic data. Nature. 2018; 562:203–209. doi: 10.1038/s41586-018-0579-z - PMC - PubMed

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