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<p>Asthma, allergic rhinitis, and pollinosis are prevalent respiratory conditions that often co-occur, suggesting common genetic and environmental causes. While significant progress has been made in identifying genetic loci in European populations, the genetic architecture in East Asian populations remains poorly understood. Using GWAS summary statistics from BioBank Japan, we performed multi-trait genome-wide association studies (MTAG) to quantify the genetic overlap among asthma, allergic rhinitis, and pollinosis in East Asians. Genetic correlation analysis revealed significant positive correlations among the three conditions, and stratified LDSC (Linkage Disequilibrium Score Regression) analysis identified heritability enrichments in Blood/Immune and Digestive tissues. We discovered novel pleiotropic loci at 9q32 and 10q25.2 specific to East Asians, with candidate gene expression analysis highlighting differential expression of <i>AKNA</i>, <i>ATP6V1G1</i>, and <i>GPAM</i>. These findings provide new insights into the shared genetic architecture and biological mechanisms underlying these conditions, advancing our understanding of their genetic determinants and identifying potential therapeutic targets.</p>

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Identification of shared genetic loci for asthma, allergic rhinitis, and pollinosis in East Asians

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年2月19日

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  • Dong Wang,
  • Shuai Liu,
  • Qinfeng Wu,
  • Yue Jiang,
  • Chumeng Zhang,
  • Weiyi Ye,
  • Bichen Peng,
  • Haoran Xie,
  • Wen Li,
  • Yue Wang,
  • Lili Zhi,
  • Xiao Chang,
  • Lei Shao

摘要

Asthma, allergic rhinitis, and pollinosis are prevalent respiratory conditions that often co-occur, suggesting common genetic and environmental causes. While significant progress has been made in identifying genetic loci in European populations, the genetic architecture in East Asian populations remains poorly understood. Using GWAS summary statistics from BioBank Japan, we performed multi-trait genome-wide association studies (MTAG) to quantify the genetic overlap among asthma, allergic rhinitis, and pollinosis in East Asians. Genetic correlation analysis revealed significant positive correlations among the three conditions, and stratified LDSC (Linkage Disequilibrium Score Regression) analysis identified heritability enrichments in Blood/Immune and Digestive tissues. We discovered novel pleiotropic loci at 9q32 and 10q25.2 specific to East Asians, with candidate gene expression analysis highlighting differential expression of AKNA, ATP6V1G1, and GPAM. These findings provide new insights into the shared genetic architecture and biological mechanisms underlying these conditions, advancing our understanding of their genetic determinants and identifying potential therapeutic targets.