期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 92, 期 1, 页码 41-51出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2012.11.018
关键词
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资金
- Shun Tak District Min Yuen Tong of Hong Kong
- Research Grant Council of the Hong Kong Government [HKU781709M, HKU 784611M, HKU 770411M]
- Ministry of Education of China [IRT-1046]
- National Natural Science Foundation of China (NSFC) [81171505, 30972727, 81071940, 31000528, 81102192, 30830089]
- State Key Basic Research Program 973 of China [2011CB512103, 2012CB722404]
- National Research University Project of The Commission on Higher Education of Thailand
- Ratchadaphiseksomphot Endowment Fund [HR1163A]
- National Research Council of Thailand
- Thailand Research Fund
- Hong Kong GRF [HKU 7623/08M, HKU 7747/07M]
- Edward the Sal Kim Hotung Pediatric Education and Research Fund
Systemic lupus erythematosus (SLE) is a prototype autoimmune disease with a strong genetic involvement and ethnic differences. Susceptibility genes identified so far only explain a small portion of the genetic heritability of SLE, suggesting that many more loci are yet to be uncovered for this disease. In this study, we performed a meta-analysis of genome-wide association studies on SLE in Chinese Han populations and followed up the findings by replication in four additional Asian cohorts with a total of 5,365 cases and 10,054 corresponding controls. We identified genetic variants in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with the disease. These findings point to potential roles of cell-cycle regulation, autophagy, and DNA demethylation in SLE pathogenesis. For the region involving TET3 and that involving CDKN1B, multiple independent SNPs were identified, highlighting a phenomenon that might partially explain the missing heritability of complex diseases.
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