Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
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DOI：
10.1038/s42003-019-0712-z
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发表时间：
2019-12-12
影响因子：
5.9
通讯作者：
Tsujikawa, Akitaka
中科院分区：
文献类型：
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作者：
Hosoda, Yoshikatsu;Miyake, Masahiro;Tsujikawa, Akitaka
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）的理解，这是失明的主要原因;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中进行验证研究，包括1546个CSC样本和13，029个对照，确定了两个新的CSC易感基因座：TNFRSF 10A-LOC 389641和近GATA 5（rs 13278062，比值比=1.35，P =1.26 x 10（-13）; rs6061548，比值比= 1.63，P = 5.36 x 10（-15））。已知在TNFRSF 10A-L0 C389641 rsl 3278062处的T等位基因（CSC的风险等位基因）是AMD的风险等位基因。本研究不仅发现了CSC的新易感基因，而且提高了对AMD发病机制的认识。
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 x 10(-13); rs6061548, odds ratio = 1.63, P = 5.36 x 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.