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<p>Central serous chorioretinopathy (CSC) is a major cause of vision loss, especially in middle-aged men, and its chronic subtype can lead to legal blindness. Despite its clinical importance, the underlying mechanisms of CSC need further clarification. In this study, we conducted a meta-analysis of three genome-wide association studies (GWASs) for CSC consisting of 8811 Asians and Caucasians, followed by replication in an additional 4338 Asians. We identified four genome-wide hits, including a novel hit (rs12960630 at <i>LINC01924-CDH7</i>, <i>P</i><sub>meta</sub> = 2.97 × 10<sup>−9</sup>). A phenome-wide association study for rs12960630 showed a positive correlation between its CSC risk allele with plasma cortisol concentration. Expression/splicing quantitative trait loci (QTL) analyses showed an association of all these hits with the expression and/or splicing of genes in genital organs, which may explain the sex differences in CSC. Protein QTL also suggested the protein-level contribution of the complement factor H pathway to CSC pathogenesis.</p>

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Genome-wide association and multi-omics analyses provide insights into the disease mechanisms of central serous chorioretinopathy

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年3月17日

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  • Yuki Mori,
  • Elon H. C. van Dijk,
  • Masahiro Miyake,
  • Yoshikatsu Hosoda,
  • Anneke I. den Hollander,
  • Suzanne Yzer,
  • Akiko Miki,
  • Li Jia Chen,
  • Jeeyun Ahn,
  • Ayako Takahashi,
  • Kazuya Morino,
  • Shin-ya Nakao,
  • Carel B. Hoyng,
  • Danny S. C. Ng,
  • Ling-Ping Cen,
  • Haoyu Chen,
  • Tsz Kin Ng,
  • Chi Pui Pang,
  • Kwangsic Joo,
  • Takehiro Sato,
  • Yasuhiko Sakata,
  • Atsushi Tajima,
  • Yasuharu Tabara,
  • Takeo Nakayama,
  • Akihiro Sekine,
  • Shinji Kosugi,
  • Kyu Hyung Park,
  • Fumihiko Matsuda,
  • Kenji Yamashiro,
  • Shigeru Honda,
  • Masao Nagasaki,
  • Camiel J. F. Boon,
  • Akitaka Tsujikawa

摘要

Central serous chorioretinopathy (CSC) is a major cause of vision loss, especially in middle-aged men, and its chronic subtype can lead to legal blindness. Despite its clinical importance, the underlying mechanisms of CSC need further clarification. In this study, we conducted a meta-analysis of three genome-wide association studies (GWASs) for CSC consisting of 8811 Asians and Caucasians, followed by replication in an additional 4338 Asians. We identified four genome-wide hits, including a novel hit (rs12960630 at LINC01924-CDH7, Pmeta = 2.97 × 10−9). A phenome-wide association study for rs12960630 showed a positive correlation between its CSC risk allele with plasma cortisol concentration. Expression/splicing quantitative trait loci (QTL) analyses showed an association of all these hits with the expression and/or splicing of genes in genital organs, which may explain the sex differences in CSC. Protein QTL also suggested the protein-level contribution of the complement factor H pathway to CSC pathogenesis.