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Genetic variants associated with syncope implicate neural and autonomic processes

医学 晕厥(音系) 血管迷走性晕厥 血压 内科学 心脏病学 孟德尔随机化 心率 疾病 遗传变异 遗传学 基因型 生物 基因
作者
Hildur M. Aegisdottir,Rósa B. Þórólfsdóttir,Garðar Sveinbjörnsson,Olafur A. Stefansson,Bjarni Gunnarsson,Vinicius Tragante,Guðmar Þorleifsson,Lilja Stefánsdóttir,Thorgeir E. Thorgeirsson,Egil Ferkingstad,Patrick Sulem,Gudmundur L. Norddahl,Gudrun Rutsdottir,Karina Banasik,Alex Hørby Christensen,Christina Mikkelsen,Ole Birger Pedersen,Søren Brunak,Mie Topholm Bruun,Christian Erikstrup,Rikke Louise Jacobsen,Kaspar René Nielsen,Erik Sørensen,Michael L. Frigge,Kristján Eldjárn Hjörleifsson,Erna V. Ívarsdóttir,Anna Helgadóttir,Sólveig Grétarsdóttir,Valgerður Steinthórsdóttir,Ásmundur Oddsson,Hannes P. Eggertsson,Gisli H. Halldorsson,David A. Jones,Jeffrey L. Anderson,Kirk U. Knowlton,Lincoln Nadauld,Magnús Haraldsson,Guðmundur Þorgeirsson,Henning Bundgaard,Davíð O. Arnar,Unnur Þorsteinsdóttir,Daníel F. Guðbjartsson,Sisse Rye Ostrowski,Hilma Hólm,Kāri Stefánsson
出处
期刊:European Heart Journal [Oxford University Press]
卷期号:44 (12): 1070-1080 被引量:6
标识
DOI:10.1093/eurheartj/ehad016
摘要

Abstract Aims Syncope is a common and clinically challenging condition. In this study, the genetics of syncope were investigated to seek knowledge about its pathophysiology and prognostic implications. Methods and results This genome-wide association meta-analysis included 56 071 syncope cases and 890 790 controls from deCODE genetics (Iceland), UK Biobank (United Kingdom), and Copenhagen Hospital Biobank Cardiovascular Study/Danish Blood Donor Study (Denmark), with a follow-up assessment of variants in 22 412 cases and 286 003 controls from Intermountain (Utah, USA) and FinnGen (Finland). The study yielded 18 independent syncope variants, 17 of which were novel. One of the variants, p.Ser140Thr in PTPRN2, affected syncope only when maternally inherited. Another variant associated with a vasovagal reaction during blood donation and five others with heart rate and/or blood pressure regulation, with variable directions of effects. None of the 18 associations could be attributed to cardiovascular or other disorders. Annotation with regard to regulatory elements indicated that the syncope variants were preferentially located in neural-specific regulatory regions. Mendelian randomization analysis supported a causal effect of coronary artery disease on syncope. A polygenic score (PGS) for syncope captured genetic correlation with cardiovascular disorders, diabetes, depression, and shortened lifespan. However, a score based solely on the 18 syncope variants performed similarly to the PGS in detecting syncope risk but did not associate with other disorders. Conclusion The results demonstrate that syncope has a distinct genetic architecture that implicates neural regulatory processes and a complex relationship with heart rate and blood pressure regulation. A shared genetic background with poor cardiovascular health was observed, supporting the importance of a thorough assessment of individuals presenting with syncope.
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