| Literature DB >> 28754791 |
Ricong Xu1,2, Qibin Li3, Rongjun Liu1,4, Juan Shen3, Ming Li1, Minghui Zhao5, Meng Wang1, Qijun Liao3, Haiping Mao1, Zhijian Li1, Na Zhou3, Peiran Yin1, Yue Li3, Xueqing Tang1, Tian Wu3, Zhong Zhong1, Yan Wang3, Zhen Ai1, Ou Wang3, Nan Chen6, Xiaoqin Yang3, Junbin Fang3, Ping Fu7, Jieruo Gu8, Kun Ye9, Jian Chen10, Lie Dai11, Huafeng Liu12, Zhangsuo Liu13, Yunhua Liao14, Jianxin Wan15, Guohua Ding16, Jinghong Zhao17, Hao Zhang18, Shuxia Fu19, Liangdan Sun20,21, Xuejun Zhang21,22, Huanming Yang3,23, Jian Wang3,23, Jun Wang3,24,20, Jianjun Liu20,25,26, Yingrui Li27, Xueqing Yu28,12.
Abstract
Lupus nephritis (LN) is one of the most prevalent and serious complications of SLE, with significant effects on patient and renal survival. Although a large number of genetic variants associated with SLE have been identified, biomarkers that correlate with LN are extremely limited. In this study, we performed a comprehensive sequencing analysis of the whole MHC region in 1331 patients with LN and 1296 healthy controls and validated the independent associations in another 950 patients with LN and 1000 controls. We discovered five independent risk variants for LN within the MHC region, including HLA-DRβ1 amino acid 11 (Pomnibus<0.001), HLA-DQβ1 amino acid 45 (P<0.001; odds ratio, 0.58; 95% confidence interval, 0.52 to 0.65), HLA-A amino acid 156 (Pomnibus<0.001), HLA-DPβ1 amino acid 76 (Pomnibus<0.001), and a missense variant in PRRC2A (rs114580964; P<0.001; odds ratio, 0.38; 95% confidence interval, 0.30 to 0.49) at genome-wide significance. These data implicate aberrant peptide presentation by MHC classes 1 and 2 molecules and sex hormone modulation in the development of LN.Entities:
Keywords: Deep Sequencing; Major Histocompatibility Complex; Multiple Risk Variants; lupus nephritis
Mesh：
Year: 2017 PMID： 28754791 PMCID： PMC5661284 DOI： 10.1681/ASN.2016121331
Source DB: PubMed Journal: J Am Soc Nephrol ISSN： 1046-6673 Impact factor: 10.121