ST6GAL1 polymorphisms influence susceptibility and progression of IgA nephropathy in a Chinese Han population
ST6GAL1 polymorphisms influence susceptibility and progression of IgA nephropathy in a Chinese Han population
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ST6GAL1 多态性影响中国汉族人群 IgA 肾病的易感性和进展
DOI：
10.1016/j.imbio.2020.151973
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发表时间：
2020-07-01
期刊：
影响因子：
2.8
通讯作者：
Li, Ming
中科院分区：
文献类型：
--
作者：
Fu, Dongying;Zhong, Zhong;Li, Ming
背景：ST 6 GAL 1在先前的全基因组关联研究中已被确定为伊加肾病（IgAN）的新易感基因。方法：采用Sequenom MassARRAY iPLEX技术对1000例中国汉族IgAN患者和1000例健康对照者的ST 6 GAL 1基因26个单核苷酸多态性（single nucleotide polymorphism，SNPs）进行基因分型。以年龄和性别为协变量进行Logistic回归分析，以评估ST 6 GAL 1基因多态性对IgAN易感性的影响。结果：rs7634389（OR = 1.24，95%CI = 1.02 - 1.50，Pdominant）和rs6784233（OR = 1.23，95%CI = 1.05 - 1.50，Pdominant）与肾存活率的相关性分别为0.034和0.036。OR = 1.28，95%CI = 1.05 - 1.55，P显性= 0.014）与IgA肾病的易感性有关。此外，rs7634389与IgAN患者的高尿酸血症（OR = 1.27，p = 0.012）和节段性肾小球硬化（OR = 1.21，p = 0.047）相关。此外，rs7634389与校正多种混杂因素后的肾脏存活率独立相关（风险比[HR] = 0.51，95% CI = 0.33 - 0.78，p = 0.002）。单倍型分析证实ST 6 GAL 1基因多态性与IgAN.Conclusions的易感性，我们的研究表明，ST 6 GAL 1基因多态性与IgAN的易感性和临床结果在中国汉族人群。
Background: ST6GAL1 has been identified as a novel susceptibility gene for IgA nephropathy (IgAN) in a previous genome-wide association study. The present study is aimed at exploring whether the genetic polymorphisms of ST6GAL1 gene correlate with IgAN susceptibility, clinical phenotypes and progression in a Chinese Han population.Methods: Twenty-six single nucleotide polymorphisms (SNPs) of ST6GAL1 were genotyped in 1000 biopsyproven IgAN patients and 1000 control subjects of Chinese Han population using Sequenom MassARRAY iPLEX. A logistic regression analysis with age and sex as covariates was performed to evaluate the effects of ST6GAL1 gene polymorphisms on IgAN susceptibility. Kaplan-Meier method and Cox proportional hazard models were applied to analyze the associations between genetic variants and renal survival.Results: We found that rs7634389 (OR = 1.24, 95 % CI = 1.02 -1.50, (Pdominant)= 0.034) and rs6784233 (OR = 1.23, 95 % CI = 1.05 -1 . 45, P-additive = 0.013; OR = 1.28, 95 % CI = 1.05 -1.55, (Pdominant) = 0.014) were associated with susceptibility of IgAN. In addition, rs7634389 was correlated with hyperuricemia (OR = 1.27, p = 0.012) and segmental glomerulosclerosis (OR = 1.21, p = 0.047) in IgAN patients. Furthermore, rs7634389 was independently associated with renal survival after adjustments for multiple confounders (hazard ratio [HR] = 0.51, 95 % CI = 0.33 - 0.78, p = 0.002). Haplotype analysis for ST6GAL1 polymorphisms confirmed their associations with the susceptibility to IgAN.Conclusions: Our research suggested that ST6GAL1 gene polymorphisms were implicated in IgAN susceptibility and clinical outcome in a Chinese Han population.