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Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation
- Source :
- Communications Biology, Vol 1, Iss 1, Pp 1-9 (2018), Communications Biology, Communications biology, 1
- Publication Year :
- 2018
- Publisher :
- Nature Publishing Group, 2018.
-
Abstract
- Most 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.
- Subjects :
- 0301 basic medicine
Medicine (miscellaneous)
Genome-wide association study
030204 cardiovascular system & hematology
Biology
General Biochemistry, Genetics and Molecular Biology
03 medical and health sciences
0302 clinical medicine
medicine
Journal Article
Missense mutation
splice
Gene
lcsh:QH301-705.5
Sequence (medicine)
Genetic association
Genetics
VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin, sosialmedisin: 801
Atrial fibrillation
medicine.disease
Exon skipping
3. Good health
030104 developmental biology
lcsh:Biology (General)
VDP::Medical disciplines: 700::Health sciences: 800::Community medicine, Social medicine: 801
General Agricultural and Biological Sciences
Subjects
Details
- Language :
- English
- ISSN :
- 23993642
- Volume :
- 1
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Communications Biology
- Accession number :
- edsair.doi.dedup.....21408e8a1b2d6e9e4a1a8cb04fa8e922