期刊
HUMAN MOLECULAR GENETICS
卷 24, 期 1, 页码 274-284出版社
OXFORD UNIV PRESS
DOI: 10.1093/hmg/ddu429
关键词
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资金
- Research Grant Council of the Hong Kong Government [GRF HKU783813M, HKU781709M, HKU 784611M, 17125114, HKU 770411M]
- S. K. Yee Medical Foundation
- MOE of China [IRT-1046]
- National Natural Science Foundation of China [81171505, 30972727]
- Pre-project of State Key Basic Research Program 973 of China [2011CB512103, 2012CB722404]
- National Key Basic Research Program of China [2014CB541901]
- Program for New Century Excellent Talents in University [NCET-12-0600]
- Key Project of Chinese Ministry of Education [213018A]
- key program of National Natural Science Foundation of China [30830089]
- National Research University Project of CHE
- Ratchadaphiseksomphot Endowment Fund [HR1163A]
- National Research Council of Thailand
- Thailand Research Fund
- University of Hong Kong [201209176205, 201309176100, 201211159049]
- University of Hong Kong
- Centre for Genomic Sciences
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease that affects mainly females. What role the X chromosome plays in the disease has always been an intriguing question. In this study, we examined the genetic variants on the X chromosome through meta-analysis of two genome-wide association studies (GWAS) on SLE on Chinese Han populations. Prominent association signals from the meta-analysis were replicated in 4 additional Asian cohorts, with a total of 5373 cases and 9166 matched controls. We identified a novel variant in PRPS2 on Xp22.3 as associated with SLE with genome-wide significance (rs7062536, OR = 0.84, P=1.00E-08). Association of the L1CAM-MECP2 region with SLE was reported previously. In this study, we identified independent contributors in this region in NAA1D (rs2071128, OR = 0.81, P = 2.19E 13) and TMEM187(rs17422, OR = 0.75, P = 1.47E 15), in addition to replicating the association from IRAK1-MECP2 region (rs1059702, OR = 0.71, P = 2.40E 18) in Asian cohorts. The X-linked susceptibility variants showed higher effect size in males than that in females, similar to results from a genome-wide survey of associated SNPs on the autosomes. These results suggest that susceptibility genes identified on the X chromosome, while contributing to disease predisposition, might not contribute significantly to the female predominance of this prototype autoimmune disease.
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