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Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.
Communications Biology ( IF 5.2 ) Pub Date : 2019-12-12 , DOI: 10.1038/s42003-019-0712-z Yoshikatsu Hosoda 1, 2 , Masahiro Miyake 1, 2 , Rosa L Schellevis 3 , Camiel J F Boon 4 , Carel B Hoyng 3 , Akiko Miki 5 , Akira Meguro 6 , Yoichi Sakurada 7 , Seigo Yoneyama 7 , Yukari Takasago 8 , Masayuki Hata 1 , Yuki Muraoka 1 , Hideo Nakanishi 1 , Akio Oishi 1 , Sotaro Ooto 1 , Hiroshi Tamura 1 , Akihito Uji 1 , Manabu Miyata 1 , Ayako Takahashi 1 , Naoko Ueda-Arakawa 1 , Atsushi Tajima 9 , Takehiro Sato 9 , Nobuhisa Mizuki 6 , Chieko Shiragami 8 , Tomohiro Iida 10 , Chiea Chuen Khor 11, 12 , Tien Yin Wong 11, 13, 14 , Ryo Yamada 2 , Shigeru Honda 5, 15 , Eiko K de Jong 3 , Anneke I den Hollander 3 , Fumihiko Matsuda 2 , Kenji Yamashiro 1, 16 , Akitaka Tsujikawa 1
Communications Biology ( IF 5.2 ) Pub Date : 2019-12-12 , DOI: 10.1038/s42003-019-0712-z Yoshikatsu Hosoda 1, 2 , Masahiro Miyake 1, 2 , Rosa L Schellevis 3 , Camiel J F Boon 4 , Carel B Hoyng 3 , Akiko Miki 5 , Akira Meguro 6 , Yoichi Sakurada 7 , Seigo Yoneyama 7 , Yukari Takasago 8 , Masayuki Hata 1 , Yuki Muraoka 1 , Hideo Nakanishi 1 , Akio Oishi 1 , Sotaro Ooto 1 , Hiroshi Tamura 1 , Akihito Uji 1 , Manabu Miyata 1 , Ayako Takahashi 1 , Naoko Ueda-Arakawa 1 , Atsushi Tajima 9 , Takehiro Sato 9 , Nobuhisa Mizuki 6 , Chieko Shiragami 8 , Tomohiro Iida 10 , Chiea Chuen Khor 11, 12 , Tien Yin Wong 11, 13, 14 , Ryo Yamada 2 , Shigeru Honda 5, 15 , Eiko K de Jong 3 , Anneke I den Hollander 3 , Fumihiko Matsuda 2 , Kenji Yamashiro 1, 16 , Akitaka Tsujikawa 1
Affiliation
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The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13,029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P = 1.26 × 10-13; rs6061548, odds ratio = 1.63, P = 5.36 × 10-15). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD.
中文翻译：
全基因组关联分析确定了粗脉络膜疾病和中心性浆液性脉络膜视网膜病变的两个易感位点。
最近出现的厚脉络膜概念改变了对年龄相关性黄斑变性（AMD）的认识，AMD是导致失明的主要原因；最近的研究将 AMD 部分归因于厚脉络膜疾病中心性浆液性脉络膜视网膜病变 (CSC)，这表明阐明 CSC 发病机制的重要性。我们的大型全基因组关联研究随后在三个独立的日本和欧洲队列（包括 1546 个 CSC 样本和 13,029 个对照）中进行了验证研究，确定了两个新的 CSC 易感性位点：TNFRSF10A-LOC389641 和近 GATA5（rs13278062，比值比 = 1.35，P = 1.26 × 10-13；rs6061548，比值比 = 1.63，P = 5.36 × 10-15）。 TNFRSF10A-LOC389641 rs13278062 处的 AT 等位基因是 CSC 的风险等位基因，已知也是 AMD 的风险等位基因。这项研究不仅鉴定了CSC的新易感基因，而且提高了对AMD发病机制的认识。
更新日期：2019-12-13
中文翻译：
全基因组关联分析确定了粗脉络膜疾病和中心性浆液性脉络膜视网膜病变的两个易感位点。
最近出现的厚脉络膜概念改变了对年龄相关性黄斑变性（AMD）的认识，AMD是导致失明的主要原因；最近的研究将 AMD 部分归因于厚脉络膜疾病中心性浆液性脉络膜视网膜病变 (CSC)，这表明阐明 CSC 发病机制的重要性。我们的大型全基因组关联研究随后在三个独立的日本和欧洲队列（包括 1546 个 CSC 样本和 13,029 个对照）中进行了验证研究，确定了两个新的 CSC 易感性位点：TNFRSF10A-LOC389641 和近 GATA5（rs13278062，比值比 = 1.35，P = 1.26 × 10-13；rs6061548，比值比 = 1.63，P = 5.36 × 10-15）。 TNFRSF10A-LOC389641 rs13278062 处的 AT 等位基因是 CSC 的风险等位基因，已知也是 AMD 的风险等位基因。这项研究不仅鉴定了CSC的新易感基因，而且提高了对AMD发病机制的认识。
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