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Variants in the Promoter Region of HLA-DQA1 were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population
Alternative TitleVariants in the Promoter Region of HLA-DQA1 were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population
Qin XiaoSong1; Liu JianHua1; Lyu GuanTing2; Peng MengLe3; Yang FuNing4; Qin DongChun3; Li YongZhe4; Liu Yong1
2017
Source PublicationChinese Medical Journal
ISSN0366-6999
Volume130Issue:14Pages:1677-1682
AbstractBackground: 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-DQA1 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.
Other AbstractBackground: 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-DQA1 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.
KeywordAutoimmune Disease Medicine R HLA-DQA1 Idiopathic Membranous Nephropathy Promoter Chinese
Indexed ByCSCD
Language英语
CSCD IDCSCD:6029132
Citation statistics
Document Type期刊论文
Identifierhttp://ir.imr.ac.cn/handle/321006/146929
Collection中国科学院金属研究所
Affiliation1.中国科学院金属研究所
2.中国科学院地球环境研究所
3.郑州大学
4.Chinese Acad Med Sci, Peking Union Med Coll Hosp, Department Rheumatol & Clin Immunol, Beijing 100005, Peoples R China Peking Union Med Coll Hosp Department Rheumatol & Clin Immunol
5.上海市地震局
Recommended Citation
GB/T 7714
Qin XiaoSong,Liu JianHua,Lyu GuanTing,et al. Variants in the Promoter Region of HLA-DQA1 were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population[J]. Chinese Medical Journal,2017,130(14):1677-1682.
APA Qin XiaoSong.,Liu JianHua.,Lyu GuanTing.,Peng MengLe.,Yang FuNing.,...&Liu Yong.(2017).Variants in the Promoter Region of HLA-DQA1 were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population.Chinese Medical Journal,130(14),1677-1682.
MLA Qin XiaoSong,et al."Variants in the Promoter Region of HLA-DQA1 were Associated with Idiopathic Membranous Nephropathy in a Chinese Han Population".Chinese Medical Journal 130.14(2017):1677-1682.
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