Tucker Nathan R, Clauss Sebastian, Ellinor Patrick T
Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA.
Cardiovascular Research Center, Massachusetts General Hospital, Charlestown, MA 02129, USA Medizinische Klinik und Poliklinik 1, Campus Grosshadern, Ludwig-Maximilians-Universität München (LMU), Munich, Germany DZHK (German Centre for Cardiovascular Research), Partner site Munich, Germany.
Cardiovasc Res. 2016 Apr 1;109(4):493-501. doi: 10.1093/cvr/cvv283. Epub 2016 Jan 4.
Atrial fibrillation (AF) is the most common cardiac arrhythmia with well-established clinical and genetic risk components. Genome-wide association studies (GWAS) have identified 17 independent susceptibility signals for AF at 14 genomic regions, but the mechanisms through which these loci confer risk to AF remain largely undefined. This problem is not unique to AF, as the field of functional genomics, which attempts to bridge this gap from genotype to phenotype, has only uncovered the mechanisms for a handful of GWAS loci. Recent functional genomic studies have made great strides towards translating genetic discoveries to an underlying mechanism, but the large-scale application of these techniques to AF has remain limited. These advances, as well as the continued unresolved challenges for both common variation in AF and the functional genomics field in general, will be the subject of the following review.
心房颤动（AF）是最常见的心律失常，具有公认的临床和遗传风险因素。全基因组关联研究（GWAS）已在14个基因组区域确定了17个与AF相关的独立易感信号，但这些基因座导致AF风险的机制仍大多不明。这个问题并非AF所独有，因为试图弥合从基因型到表型这一差距的功能基因组学领域，仅揭示了少数GWAS基因座的机制。最近的功能基因组学研究在将遗传发现转化为潜在机制方面取得了很大进展，但这些技术在AF中的大规模应用仍然有限。这些进展，以及AF常见变异和整个功能基因组学领域持续未解决的挑战，将是以下综述的主题。
