期刊
NATURE GENETICS
卷 46, 期 9, 页码 1007-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.3061
关键词
-
资金
- Natural Science Foundation Major International (Regional) Joint Research Project [81320108009]
- National Basic Research Program of China (973 Program) [2011CB510200]
- Key Project of the Natural Science Foundation [81130019]
- National Natural Science Foundation Project [31370893, 81270990, 81025006]
- Research Fund for the Doctoral Program of Higher Education of China [20115503110002]
- Clinic Key Project of the Ministry of Health [20115503110002]
- Basic Research program of Chongqing [cstc2013jcyjC10001]
- Chongqing Key Laboratory of Ophthalmology (CSTC) [2008CA5003]
- National Key Clinical Specialties Construction Program of China
- Key Project of Health Bureau of Chongqing [2012-1-003]
- Fund for PAR-EU Scholars Program
- The Youth Outstanding-notch Talent Support Program of Chongqing
To identify new genetic risk factors for Vogt-Koyanagi-Harada (VKH) syndrome, we conducted a genome-wide association study of 2,208,258 SNPs in 774 cases and 2,009 controls with follow-up in a collection of 415 cases and 2,006 controls and a further collection of 349 cases and 1,588 controls from a Han Chinese population. We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P-combined = 3.42 x 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P-combined = 2.97 x 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P-combined = 1.26 x 10(-118), OR = 2.97). The five non-HLA genes were all expressed in human iris tissue. IL23R was also expressed in the ciliary body, and EGR2 was expressed in the ciliary body and choroid. The risk G allele of rs117633859 in the promoter region of IL23R exhibited low transcriptional activation in a cell-based reporter assay and was associated with diminished IL23R mRNA expression in human peripheral blood mononuclear cells.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据