| Title: | Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation |
| Journal: | JAMA |
| Published: | 11 Dec 2018 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/30535219/ |
| DOI: | https://doi.org/10.1001/jama.2018.18179 |
Publication 2687
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Abstract
We performed large-scale, deep-coverage whole genome sequencing to identify genetic variants related to atrial fibrillation. In common variant analyses, variants at 6 previously reported atrial fibrillation loci and 1 recently identified locus exceeded genome-wide significance. In rare variant analyses, Rare variation in the gene TTN, encoding the sarcomeric protein titin, was associated with early-onset atrial fibrillation. The findings from common and rare variant analyses were successfully replicated using UKBB and MyCode studies, respectively. In conclusion, in this case control study, there was a statistically significant association between a LOF variant in the gene TTN and early-onset AF, with the variant present in a small percentage of cases.1 Author
- Choi SH et al.
1 Application
| Application ID | Title |
|---|---|
| 17488 | Understanding the Genetic Basis of Cardiac Arrhythmias |
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