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C1GALT1基因的rs1047763和rs1008898与IgA肾病风险的关联:一项全球荟萃分析。

The Association of rs1047763 and rs1008898 of C1GALT1 with IgA Nephropathy Risk: A Global Meta-Analysis.

作者信息

Nie Ruili, Cheng Guixue, Zhang Jin, Dong Yu, Wang Chen, Liu Jianhua, Qin Xiaosong

机构信息

Department of Medical Laboratory, Shengjing Hospital of China Medical University , Shenyang, China .

出版信息

Monoclon Antib Immunodiagn Immunother. 2017 Jun;36(3):95-103. doi: 10.1089/mab.2016.0050.

DOI:10.1089/mab.2016.0050
PMID:28636500
Abstract

IgA nephropathy (IgAN) is a globally common primary glomerulonephritis characterized by an elevated level of serum IgA and immune complex deposition in the mesangial area. In the serum of patients with IgAN, the hinge region of IgA1 immunoglobulin contains aberrantly glycosylated O-glycans deficient in galactose, which is normally added to the core 1 O-glycan structure by core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 (C1GALT1), the key enzyme in the process of glycosylation. It is unknown if single-nucleotide polymorphisms rs1047763 and rs1008898 of C1GALT1 increase the risk of IgAN. We enrolled 5 subjects in this meta-analysis, including a total of 1693 IgAN patients and 1864 control subjects. We performed meta-analysis on associations between rs1047763, rs1008898, and IgAN using the allele model, dominant model, recessive model, and additive model. We found that there was no relationship between rs1047763 and rs1008898 in C1GALT1 and susceptibility to IgAN.

摘要

IgA肾病(IgAN)是一种全球常见的原发性肾小球肾炎,其特征是血清IgA水平升高以及免疫复合物在系膜区沉积。在IgAN患者的血清中,IgA1免疫球蛋白的铰链区含有异常糖基化的O-聚糖,缺乏半乳糖,而半乳糖通常由核心1合酶、糖蛋白-N-乙酰半乳糖胺3-β-半乳糖基转移酶1(C1GALT1)添加到核心1 O-聚糖结构中,C1GALT1是糖基化过程中的关键酶。目前尚不清楚C1GALT1的单核苷酸多态性rs1047763和rs1008898是否会增加IgAN的发病风险。我们在这项荟萃分析中纳入了5项研究,共包括1693例IgAN患者和1864例对照受试者。我们使用等位基因模型、显性模型、隐性模型和加性模型对rs1047763、rs1008898与IgAN之间的关联进行了荟萃分析。我们发现C1GALT1中的rs1047763和rs1008898与IgAN易感性之间没有关系。

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