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Multi-ethnic genome-wide association study for atrial fibrillation
Carolina Roselli1, Mark D Chaffin1, Lu-Chen Weng1,2
1Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Nature Genetics
|June 13, 2018
Summary
This study identified 97 genetic regions linked to atrial fibrillation (AF), a common heart rhythm disorder. These findings reveal new biological pathways and potential therapeutic targets for AF.
Area of Science:
- Genetics
- Cardiology
- Genomics
Background:
- Atrial fibrillation (AF) affects over 33 million people globally and has complex genetic underpinnings.
- Understanding the genetic basis of AF is crucial for developing effective treatments.
Purpose of the Study:
- To conduct the largest genome-wide association study (GWAS) meta-analysis for AF to date.
- To identify novel genetic loci and genes associated with AF.
- To explore the biological pathways implicated in AF pathogenesis.
Main Methods:
- Performed a meta-analysis of GWAS including over 500,000 individuals (65,446 with AF).
- Conducted RNA-sequencing and expression quantitative trait locus (eQTL) analyses on left atrial samples.
- Performed transcriptome-wide association studies.
Main Results:
- Identified 97 loci significantly associated with AF, with 67 novel loci in combined-ancestry analysis and 3 novel loci in European-specific analysis.
- Identified 57 AF-associated genes through transcriptome-wide analyses, with 42 overlapping GWAS loci.
- Discovered that identified loci implicate genes enriched in cardiac development, electrophysiology, and structural pathways.
Conclusions:
- This study significantly expands the number of known AF-associated genetic loci.
- The findings provide insights into the biological mechanisms underlying AF, particularly involving cardiac development and function.
- The identified genes and pathways offer potential targets for future AF therapeutic development.
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