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<p>Atrial fibrillation (AF) is the most prevalent arrhythmia in the world and can cause serious complications such as stroke or heart failure. Paroxysmal atrial fibrillation (PAF), a subtype of AF, accounts for approximately 25% of AF cases and is estimated to affect approximately 30 million people worldwide. Despite extensive genetic research on AF, the genetic factors involved in PAF in East Asian (EAS) populations remain unidentified. The aim of our study was to identify genetic factors associated with PAF in the Japanese population, contributing to our understanding of the genetic architecture of AF in Japanese populations. We conducted whole-exome sequencing on a cohort of 1176 PAF individuals and 1172 non-PAF control subjects in a Japanese population. We processed the sequencing data in accordance with the best practices outlined in the Genome Analysis Toolkit (GATK) and conducted gene-based association tests under three variant grouping strategies (masks) using the burden test, SKAT, and SKAT-O. We then performed a meta-analysis of the resulting <i>P</i>-values, which revealed that four genes—<i>ZNF785</i>, <i>SMPD3</i>, <i>GFRA4</i>, and <i>LGALS1</i>—were significantly associated with PAF, representing novel findings. These findings provide new insights into PAF pathogenesis and suggest potential biomarkers for early detection.</p>

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Rare genetic variants involved in increased risk of paroxysmal atrial fibrillation in a Japanese population

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年4月17日

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  • Kanji Tabata,
  • Takeaki Sudo,
  • Yuki Nagata,
  • Kensuke Ihara,
  • Ken Asada,
  • Atsuhiro Kinoshita,
  • Yasuaki Tanaka,
  • Yasuteru Yamauchi,
  • Takeshi Sasaki,
  • Hitoshi Hachiya,
  • Yasushi Imai,
  • Hideo Fujita,
  • Tetsuo Sasano,
  • Tetsushi Furukawa,
  • Takanori Iwata,
  • Toshihiro Tanaka

摘要

Atrial fibrillation (AF) is the most prevalent arrhythmia in the world and can cause serious complications such as stroke or heart failure. Paroxysmal atrial fibrillation (PAF), a subtype of AF, accounts for approximately 25% of AF cases and is estimated to affect approximately 30 million people worldwide. Despite extensive genetic research on AF, the genetic factors involved in PAF in East Asian (EAS) populations remain unidentified. The aim of our study was to identify genetic factors associated with PAF in the Japanese population, contributing to our understanding of the genetic architecture of AF in Japanese populations. We conducted whole-exome sequencing on a cohort of 1176 PAF individuals and 1172 non-PAF control subjects in a Japanese population. We processed the sequencing data in accordance with the best practices outlined in the Genome Analysis Toolkit (GATK) and conducted gene-based association tests under three variant grouping strategies (masks) using the burden test, SKAT, and SKAT-O. We then performed a meta-analysis of the resulting P-values, which revealed that four genes—ZNF785, SMPD3, GFRA4, and LGALS1—were significantly associated with PAF, representing novel findings. These findings provide new insights into PAF pathogenesis and suggest potential biomarkers for early detection.