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AuthorsThorolfsdottir, Rosa B
Nielsen, Jonas B
Halldorsson, Gisli H
Ivarsdottir, Erna V
Davidsson, Olafur B
Kristjansson, Ragnar P
Valgardsson, Atli S
Sverrisson, Jon T
Holmen, Oddgeir L
Asselbergs, Folkert W
Roden, Dan M
Pedersen, Terje R
Sabatine, Marc S
Willer, Cristen J
Halldorsson, Bjarni V
Arnar, David O
Gudbjartsson, Daniel F
MetadataShow full item record
CitationCoding variants in RPL3L and MYZAP increase risk of atrial fibrillation. 2018 Jun 12;1:68. doi: 10.1038/s42003-018-0068-9 Commun Biol.
AbstractMost sequence variants identified hitherto in genome-wide association studies (GWAS) of atrial fibrillation are common, non-coding variants associated with risk through unknown mechanisms. We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with follow-up in samples from Norway and the US, focusing on low-frequency coding and splice variants aiming to identify causal genes. We observe associations with one missense (OR = 1.20) and one splice-donor variant (OR = 1.50) in RPL3L, the first ribosomal gene implicated in atrial fibrillation to our knowledge. Analysis of 167 RNA samples from the right atrium reveals that the splice-donor variant in RPL3L results in exon skipping. We also observe an association with a missense variant in MYZAP (OR = 1.38), encoding a component of the intercalated discs of cardiomyocytes. Both discoveries emphasize the close relationship between the mechanical and electrical function of the heart.
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