Article

A rare missense mutation in <i>MYH6</i> confers high risk of coarctation of the aorta

2017-08-29

Abstract excerpt

Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and carries substantial morbidity despite treatment 1 . We performed a genome-wide association study (GWAS) of CoA among 120 Icelandic cases and 355,166 controls and found association with a rare (frequency = 0.34%) missense mutation p.Arg721Trp in MYH6 (odds ratio (OR) = 44.2, P = 5.0x10 -22 ), encoding an essential sarcomere...

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Literature Corpus work: 5a5e0107-033a-562d-8e39-eb037926d892
DOI: 10.1101/180794

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