Analysis of PLA2R1 and HLA-DQA1 sequence variants in Japanese patients with idiopathic and secondary membranous nephropathy
Analysis of PLA2R1 and HLA-DQA1 sequence variants in Japanese patients with idiopathic and secondary membranous nephropathy
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DOI：
10.1007/s10157-017-1471-0
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发表时间：
2018-04-01
影响因子：
2.3
通讯作者：
Takahashi, Naoto
中科院分区：
文献类型：
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作者：
Kaga, Hajime;Komatsuda, Atsushi;Takahashi, Naoto
近年来在西方和亚洲国家的特发性膜性肾病（iMN）患者中的一些研究表明，PLA 2 R1和HLA-DQA 1基因内的一些单核苷酸多态性（SNP）与iMN显著相关。本研究共纳入58例iMN患者、26例继发性MN（sMN）患者和50例其他疾病患者。所有患者均为日本人。我们选择了PLA 2 R1内的6个SNP和HLA-DQA 1内的1个SNP，这些SNP在报道的欧洲白色人群中与iMN显著相关，并使用从每个患者的外周单核细胞制备的基因组DNA对这些外显子进行测序。分析3组间PLA 2 R1和HLA-DQA 1序列变异的差异，发现iMN组与对照组间PLA 2 R1内6个SNPs中3个（rs3749117、rs35771982和rs 2715918）的基因型和等位基因频率分布差异有统计学意义。HLA-DQA 1内SNP rs 2187668的等位基因频率分布在iMN组和对照组之间存在显著差异。在iMN患者中，PLA 2 R1和HLA-DQA 1序列变异与临床参数无相关性。sMN组和对照组的基因型和等位基因频率分布无显著性差异，而PLA 2 R1的SNP分布在国外报道的iMN组和我们的日本iMN组之间存在一定差异，而SNP rs35771982与大多数报道的iMN有显著相关性。
Several recent studies in patients with idiopathic membranous nephropathy (iMN) from Western and Asian counties showed that some single nucleotide polymorphisms (SNPs) within the PLA2R1 and HLA-DQA1 genes are significantly associated with iMN. However, there is only 1 report on analysis of PLA2R1 and HLA regions in Japanese patients with iMN.A total of 58 patients with iMN, 26 patients with secondary MN (sMN), and 50 patients with other diseases were enrolled. All patients were Japanese. We selected 6 SNPs within PLA2R1 and 1 SNP within HLA-DQA1, which were significantly associated with iMN in reported white European cohorts, and sequenced these exons using genomic DNA prepared from peripheral mononuclear cells from each patient. We then analyzed differences in PLA2R1 and HLA-DQA1 sequence variants among the 3 groups.Genotypic and allelic frequency distributions for 3 out of 6 SNPs within PLA2R1, rs3749117, rs35771982, and rs2715918 were significantly different between the iMN and control groups. Allelic frequency distributions for SNP rs2187668 within HLA-DQA1 were significantly different between the iMN and control groups. There were no correlations between PLA2R1 and HLA-DQA1 sequence variants and clinical parameters in patients with iMN. There were no significant differences in genotypic or allelic frequency distributions for examined SNPs between the sMN and control groups.There are some differences in PLA2R1 SNP distributions between previously reported cohorts from other countries and our Japanese cohort of patients with iMN, while there is a significant association between SNP rs35771982 and iMN in most of reported cohorts.