人类白细胞抗原-DQβ1第87位氨基酸位点及DQB1*0301与中国汉族系统性红斑狼疮相关。
HLA-DQβ1 amino acid position 87 and DQB1*0301 are associated with Chinese Han SLE.
作者信息
Sun Jingying, Yang Chao, Fei Wenmin, Zhang Xuelei, Sheng Yujun, Zheng Xiaodong, Tang Huayang, Yang Wanling, Yang Sen, Fan Xing, Zhang Xuejun
机构信息
Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University, Hefei, China.
Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, Hefei, China.
出版信息
Mol Genet Genomic Med. 2018 Apr 19;6(4):541-6. doi: 10.1002/mgg3.403.
BACKGROUND
Several susceptibility loci have been identified associated with Chinese Han systemic lupus erythematosus (SLE).
METHODS
We carried out imputation of classical HLA alleles, amino acids and Single Nucleotide Polymorphisms (SNPs) across the MHC region in Chinese Han SLE genome-wide association study (GWAS) of mainland and Hong Kong populations for the first time using newly constructed Han-MHC reference panel followed by stepwise conditional analysis.
RESULTS
We mapped the most significant independent association to HLA-DQβ1 at amino acid position (Phe87, p = 7.807 × 10 ) and an independent association at HLA-DQB1*0301 (P = 1.43 × 10 ).
CONCLUSION
Our study illustrates the value of population-specific HLA reference panel for fine-mapping causal variants in the MHC.
背景
已鉴定出多个与中国汉族系统性红斑狼疮（SLE）相关的易感基因座。
方法
我们首次利用新构建的汉族-MHC参考面板，对中国大陆和香港人群的中国汉族SLE全基因组关联研究（GWAS）中的经典HLA等位基因、氨基酸和整个MHC区域的单核苷酸多态性（SNP）进行了填充，随后进行逐步条件分析。
结果
我们将最显著的独立关联定位到氨基酸位置的HLA-DQβ1（Phe87，p = 7.807 × 10 ）以及HLA-DQB1*0301的独立关联（P = 1.43 × 10 ）。
结论
我们的研究说明了特定人群HLA参考面板在精细定位MHC中因果变异方面的价值。
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