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Border, R.* ; Athanasiadis, G.I.* ; Buil, A.* ; Schork, A.J.* ; Cai, N. ; Young, A.I.* ; Werge, T.* ; Flint, J.* ; Kendler, K.S.* ; Sankararaman, S.* ; Dahl, A.W.* ; Zaitlen, N.A.*

Cross-trait assortative mating is widespread and inflates genetic correlation estimates.

Science 378, 754-761 (2022)
Postprint DOI
Open Access Green
The observation of genetic correlations between disparate human traits has been interpreted as evidence of widespread pleiotropy. Here, we introduce cross-trait assortative mating (xAM) as an alternative explanation. We observe that xAM affects many phenotypes and that phenotypic cross-mate correlation estimates are strongly associated with genetic correlation estimates (R2 = 74%). We demonstrate that existing xAM plausibly accounts for substantial fractions of genetic correlation estimates and that previously reported genetic correlation estimates between some pairs of psychiatric disorders are congruent with xAM alone. Finally, we provide evidence for a history of xAM at the genetic level using cross-trait even/odd chromosome polygenic score correlations. Together, our results demonstrate that previous reports have likely overestimated the true genetic similarity between many phenotypes.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
ISSN (print) / ISBN 0036-8075
e-ISSN 1095-9203
Zeitschrift Science
Quellenangaben Band: 378, Heft: 6621, Seiten: 754-761 Artikelnummer: , Supplement: ,
Verlag American Association for the Advancement of Science (AAAS)
Begutachtungsstatus Peer reviewed
Institut(e) Helmholtz Pioneer Campus (HPC)
Förderungen Wellcome Trust
NCI NIH HHS
NIEHS NIH HHS
NHLBI NIH HHS
NIGMS NIH HHS
NINDS NIH HHS
NIMH NIH HHS
NHGRI NIH HHS
NIA NIH HHS