Dataset Information

Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

ABSTRACT: 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.

SUBMITTER: Yang W

PROVIDER: S-EPMC3542470 | biostudies-literature | 2013 Jan

REPOSITORIES: biostudies-literature

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Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

Yang Wanling W Tang Huayang H Zhang Yan Y Tang Xianfa X Zhang Jing J Sun Liangdan L Yang Jing J Cui Yong Y Zhang Lu L Hirankarn Nattiya N Cheng Hui H Pan Hai-Feng HF Pan Hai-Feng HF Gao Jinping J Lee Tsz Leung TL Sheng Yujun Y Lau Chak Sing CS Li Yang Y Chan Tak Mao TM Yin Xianyong X Ying Dingge D Lu Qianjin Q Leung Alexander Moon Ho AM Zuo Xianbo X Chen Xiang X Tong Kwok Lung KL Zhou Fusheng F Diao Qingchun Q Tse Niko Kei Chiu NK Xie Hongfu H Mok Chi Chiu CC Hao Fei F Wong Sik Nin SN Shi Bingjun B Lee Ka Wing KW Hui Yan Y Ho Marco Hok Kung MH Liang Bo B Lee Pamela Pui Wah PP Cui Hongzhou H Guo Qing Q Chung Brian Hon-Yin BH Pu Xiongming X Liu Qiji Q Zhang Xiaoguang X Zhang Change C Chong Chun Yin CY Fang Hong H Wong Raymond Woon Sing RW Sun Yonghu Y Mok Mo Yin MY Li Xiang-Pei XP Avihingsanon Yingyos Y Zhai Zhifang Z Rianthavorn Pornpimol P Deekajorndej Thavatchai T Suphapeetiporn Kanya K Gao Fei F Shotelersuk Vorasuk V Kang Xiaojing X Ying Shirley King Yee SK Zhang Lijuan L Wong Wilfred Hing Sang WH Zhu Dingxian D Fung Samuel Ka Shun SK Zeng Fanqin F Lai Wai Ming WM Wong Chun-Ming CM Ng Irene Oi Lin IO Garcia-Barceló Maria-Mercè MM Cherny Stacey S SS Shen Nan N Tam Paul Kwong-Hang PK Sham Pak Chung PC Ye Dong-Qing DQ Yang Sen S Zhang Xuejun X Lau Yu Lung YL

American journal of human genetics 20121227 1

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 ...[more]

PMID: 23273568

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Project description:IntroductionCutaneous manifestations are central to the primary diagnosis of systemic lupus erythematosus (SLE). However, information on the clinical, histopathologic, and direct immunofluorescence (DIF) features among subtypes of cutaneous lupus erythematosus (CLE), as well as longitudinal prospective observational study to evaluate the natural history and the progression to SLE, is lacking among Asians. Our objectives are to summarize the differences in the clinical, histopathologic, and DIF characteristics and serological profiles between various subtypes of CLE, and to provide its natural history and the association with disease activity in our Asian population.MethodsA prospective observational study on CLE patients was performed between May 2016 and May 2020. Patients underwent full physical/dermatologic examination, skin biopsy for histology, and DIF. Systemic Lupus Erythematosus Disease Activity Index 2000 (SLEDAI-2K) scores and laboratory data were evaluated. Time schedule and characteristics for resolution and/or the disease progression to SLE were recorded in subsequent follow-ups.ResultsOf 101 biopsy-proven CLE patients, 25 had acute CLE (ACLE), 8 had subacute CLE (SCLE), 39 had chronic CLE (CCLE) only, 22 had CCLE with SLE, and 7 had LE-nonspecific cutaneous lesions only. Patients with exclusive CLE showed lower female preponderance, serological abnormalities, and correlation to systemic disease. However, when CLE was accompanied with any LE-nonspecific cutaneous manifestations, they were associated with high antinuclear antibody (ANA) titer, renal, hematologic, joint involvement, and greater SLEDAI score. Of 207 biopsy sections, SCLE/CCLE regardless of systemic involvement showed significantly higher percentage of superficial/deep perivascular and perieccrine infiltration than ACLE. On DIF, deposition of multiple immunoreactants was associated with higher systemic disease. Approximately 10% of CLE-only patients later developed SLE but had mild systemic involvement.ConclusionOur findings support that each CLE subtype has a diverse and unique character. Comprehensive understanding of the differences among CLE subtypes is important for achieving the correct diagnosis and providing appropriate disease monitoring and management.

Dataset Information

Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

Publications

Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

Similar Datasets

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