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Variants in the Promoter Region of HLA-DQA1 were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population

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文摘 Background: Idiopathic membranous nephropathy(IMN)is an autoimmune disease and the leading cause of adult nephritic syndrome. HLA-DQA1 had been identified to be associated with IMN in Europeans and the result was replicated in Chinese Han population. In this study, six single nucleotide polymorphisms(SNPs)in the promoter of HLA-DQA1 and other two SNPs with IgA nephropathy were included for the association analysis. Methods: The SNPs were genotyped in 509 patients and 601 controls by the MassArray iPLEX. The quantification of anti-phospholipase A2 receptor(PLA2R)antibodies in sera of IMN patients was performed by anti-PLA2R ELISA(IgG)kit. Results: After analysis, four SNPs were significantly associated with IMN, with rs2187668 and rs28383345 as the top two signals (P = 8.42×10~(-5)and 2.48×10~(-5), respectively). Even under dominant model,the two SNPs were still significantly associated with IMN (P=3.50×10~(-3)for rs28383345 and P = 6.55×10~(-5)for rs2187668). After conditional study with rs2187668, rs28383345 was the only variant significantly correlated with IMN after Bonferroni correction(P = 0.016). The minor alleles of the two SNPs were also mutually exclusive in our cohort. This indicated that the two SNPs were independently associated with IMN in Chinese Han population. Levels of anti-PLA2R autoantibodies were correlated with the genotypes of the two SNPs, but not significantly(P>0.05). Conclusions: Our results revealed that a novel independent variant in the promoter of HLA-DQAl was associated with IMN in Chinese Han population. The locus possessed regulatory role according to the data of RegulomeDB. The exact role of the SNPs on the expression of HLA-DQA1 needs further investigation.
来源 Chinese Medical Journal ,2017,130(14):1677-1682 【核心库】
DOI 10.4103/0366-6999.209884
关键词 Autoimmune Disease ; HLA-DQA1 ; Idiopathic Membranous Nephropathy ; Promoter ; Chinese
地址

1. Department of Medical Laboratory, Shengjing Hospital of China Medical University, Liaoning, Shenyang, 110011  

2. Department of Blood Transfusion, Tangdu Hospital, The Fourth Military Medical University, Shaanxi, Xi'an, 710038  

3. Department of Medical Laboratory, The First Affiliated Hospital of Zhengzhou University, He'nan, Zhengzhou, 450052  

4. Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100005

语种 英文
文献类型 研究性论文
ISSN 0366-6999
学科 医药、卫生
文献收藏号 CSCD:6029132

参考文献 共 26 共2页

1.  Beck L H Jr. Membranous nephropathy: From models to man. J Clin Invest,2014,124:2307-2314 被引 13 次    
2.  Wang X P. Remission of Refractory Membranous Nephropathy by Low-dose Rituximab: A Case Report. Chin Med J,2016,129:871-873 被引 2 次    
3.  Pan X. Changing spectrum of biopsy-proven primary glomerular diseases over the past 15 years: A single-center study in China. Contrib Nephrol,2013,181:22-30 被引 26 次    
4.  Beck L H Jr. M-type phospholipase A2 receptor as target antigen in idiopathic membranous nephropathy. N Engl J Med,2009,361:11-21 被引 184 次    
5.  Ronco P. Pathophysiological advances in membranous nephropathy: Time for a shift in patient's care. Lancet,2015,385:1983-1992 被引 27 次    
6.  Vaughan R W. A DQA1 allele is strongly associated with idiopathic membranous nephropathy. Tissue Antigens,1989,34:261-269 被引 1 次    
7.  Bantis C. Tumor necrosis factor-alpha gene G-308A polymorphism is a risk factor for the development of membranous glomerulonephritis. Am J Nephrol,2006,26:12-15 被引 2 次    
8.  Kim S. Single nucleotide polymorphisms in the phospholipase A2 receptor gene are associated with genetic susceptibility to idiopathic membranous nephropathy. Nephron Clin Pract,2011,117:c253-c258 被引 8 次    
9.  Stanescu H C. Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. N Engl J Med,2011,364:616-626 被引 33 次    
10.  Schmidt H. HLA-DR15 haplotype and multiple sclerosis: A HuGE review. Am J Epidemiol,2007,165:1097-1109 被引 3 次    
11.  Klouda P T. Strong association between idiopathic membranous nephropathy and HLA-DRW3. Lancet,1979,2:770-771 被引 3 次    
12.  Hiki Y. Strong association of HLA-DR2 and MT1 with idiopathic membranous nephropathy in Japan. Kidney Int,1984,25:953-957 被引 1 次    
13.  Le Petit J C. HLA-DR3 and idiopathic membranous nephritis (IMN) association. Tissue Antigens,1982,20:227-228 被引 2 次    
14.  Tomura S. Strong association of idiopathic membranous nephropathy with HLA-DR2 and MT1 in Japanese. Nephron,1984,36:242-245 被引 2 次    
15.  Lv J. Interaction between PLA2R1 and HLA-DQA1 variants associates with anti-PLA2R antibodies and membranous nephropathy. J Am Soc Nephrol,2013,24:1323-1329 被引 11 次    
16.  Cui G. Development of a high resolution melting method for genotyping of risk HLA-DQA1 and PLA2R1 alleles and ethnic distribution of these risk alleles. Gene,2013,514:125-130 被引 4 次    
17.  Boyle A P. Annotation of functional variation in personal genomes using RegulomeDB. Genome Res,2012,22:1790-1797 被引 20 次    
18.  Li P. Association of IL12A Expression Quantitative Trait Loci (eQTL) With primary biliary cirrhosis in a Chinese Han population. Medicine (Baltimore),2016,95:e3665 被引 2 次    
19.  Li P. A rare nonsynonymous variant in the lipid metabolic gene HELZ2 related to primary biliary cirrhosis in Chinese Han. Allergy Asthma Clin Immunol,2016,12:14 被引 1 次    
20.  Purcell S. PLINK: A tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet,2007,81:559-575 被引 447 次    
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