Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis
Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis
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DOI：
10.1038/s42003-020-01185-9
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发表时间：
2020-08-21
影响因子：
5.9
通讯作者：
Mizuki, Nobuhisa
中科院分区：
文献类型：
--
作者：
Meguro, Akira;Ishihara, Mami;Mizuki, Nobuhisa
结节病是一种遗传复杂的全身性炎症性疾病，影响多个器官。我们提出了一个日本队列（700例结节病病例和886例对照）的GWAS，并在来自日本（931例病例和1,042例对照）和捷克共和国（265例病例和264例对照）的独立样本中进行了复制。我们鉴定了HLA复合体外的三个位点，CCL 24、STYXL 1-SRRM 3和C1 orf 141-IL 23 R，它们在全基因组范围内显示出显著的相关性（P
Sarcoidosis is a genetically complex systemic inflammatory disease that affects multiple organs. We present a GWAS of a Japanese cohort (700 sarcoidosis cases and 886 controls) with replication in independent samples from Japan (931 cases and 1,042 controls) and the Czech Republic (265 cases and 264 controls). We identified three loci outside the HLA complex, CCL24, STYXL1-SRRM3, and C1orf141-IL23R, which showed genome-wide significant associations (P