中国人群中HLA - DQA1基因多态性与儿童原发性肾病综合征风险的关联
Association of HLA-DQA1 gene polymorphisms with the risk of children primary nephrotic syndrome in Chinese population.
作者信息
Zhu Bingbing, Zhang Ruifeng, Yang Huandan, Yuan Tingting, Lv Juan, Peng Qianqian, Tian Lijun
机构信息
Xuzhou Children's Hospital, Xuzhou, Jiangsu, China.
出版信息
J Clin Lab Anal. 2019 Jan;33(1):e22623. doi: 10.1002/jcla.22623. Epub 2018 Jul 13.
BACKGROUND
The association between gene polymorphisms and the risk of primary nephrotic syndrome (PNS) is uncovering recently. This study aims to investigate the relationship between single nucleotide polymorphisms (SNPs) on HLA-DQA1 gene and the risk of PNS.
METHODS
In this study, we genotyped eight single nucleotide polymorphisms (SNPs) in the HLA-DQA1 gene in 501 PNS patients and 532 healthy people in Chinese population. Then we analyzed associations of these SNPs with the clinical features in primary nephrotic syndrome of children in Chinese population.
RESULTS
Significant associations with PNS were found on missense SNP rs1129740 (GG vs AA, odds ratio (OR) = 1.987, 95% confidence interval (CI) = 1.468-2.652, P = 0.00177049) and rs1047992 (AA vs GG, OR = 1.857, 95% CI = 1.325-2.391, P = 1.1073E-10) of the HLA-DQA1 gene.
CONCLUSIONS
This work suggests SNPs of HLA-DQA1 are risk factors for PNS in Chinese population, which implies roles of immune response in the pathogenesis of PNS.
背景
基因多态性与原发性肾病综合征（PNS）风险之间的关联最近正在被揭示。本研究旨在探讨HLA - DQA1基因上的单核苷酸多态性（SNP）与PNS风险之间的关系。
方法
在本研究中，我们对中国人群中501例PNS患者和532名健康人的HLA - DQA1基因中的8个单核苷酸多态性（SNP）进行了基因分型。然后我们分析了这些SNP与中国人群儿童原发性肾病综合征临床特征之间的关联。
结果
在HLA - DQA1基因的错义SNP rs1129740（GG与AA相比，优势比（OR）= 1.987，95%置信区间（CI）= 1.468 - 2.652，P = 0.00177049）和rs1047992（AA与GG相比，OR = 1.857，95% CI = 1.325 - 2.391，P = 1.1073E - 10）中发现了与PNS的显著关联。
结论
这项工作表明HLA - DQA1的SNP是中国人群中PNS的危险因素，这意味着免疫反应在PNS发病机制中的作用。
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