Background

Immunoglobulin A nephropathy (IgAN) is one of the most common primary forms of glomerulonephritis, while IgA vasculitis (IgAV) is the most common systemic vasculitis in children.

Objective

Herein we aimed to uncover single nucleotide polymorphism (SNP) markers associated with these two related diseases by applying association tests and Sanger sequencing.

Methods

Within the discovery stage, genomic DNA in blood samples from 101 enrolled patients were genotyped by the Korean Biobank Array. Association tests were performed with 397 Korean reference genomes. In the validation stage, 26 independent samples were genotyped by Sanger sequencing.

Results

Four SNPs were identified (P < 5 × 10^–8) in the discovery stage. To determine whether the genotypes determined by SNP array were accurate, additional genotyping via Sanger sequencing was performed. As a result, only one SNP, rs9428555, was properly genotyped. In the validation stage, the minor allele (A > G) was found in as many as 15 out of 26 samples (minor allele frequency = 0.288), even though this minor allele is rare in East Asians (< 3%).

Conclusions

We found rs9428555 as a novel susceptible locus associated with the development of both IgAN and IgAV in Koreans. Though we cannot conclude rs9428555 is the unique susceptible locus of IgAN and IgAV, it is likely a good marker as the minor allele of this SNP occurred much more often in the patient group here versus within East Asians as a whole.

中文翻译：

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新的易感基因座 rs9428555 与韩国儿童发病的免疫球蛋白 A 肾病和免疫球蛋白 A 血管炎有关

背景

免疫球蛋白 A 肾病 (IgAN) 是最常见的原发性肾小球肾炎之一，而 IgA 血管炎 (IgAV) 是儿童最常见的全身性血管炎。

客观的

在这里，我们旨在通过应用关联测试和 Sanger 测序来揭示与这两种相关疾病相关的单核苷酸多态性 (SNP) 标记。

方法

在发现阶段，来自 101 名登记患者的血液样本中的基因组 DNA 由韩国生物库阵列进行基因分型。使用 397 个韩国参考基因组进行关联测试。在验证阶段，通过 Sanger 测序对 26 个独立样本进行了基因分型。

结果

在发现阶段确定了四个 SNP (P < 5 × 10 ^–8 )。为了确定 SNP 阵列确定的基因型是否准确，通过 Sanger 测序进行了额外的基因分型。结果，只有一个 SNP，rs9428555，被正确地进行了基因分型。在验证阶段，在 26 个样本中有多达 15 个（次要等位基因频率 = 0.288）发现了次要等位基因（A > G），尽管这种次要等位基因在东亚人中很少见（< 3%）。

结论

我们发现 rs9428555 是与韩国人 IgAN 和 IgAV 的发展相关的新易感基因座。虽然我们不能断定 rs9428555 是 IgAN 和 IgAV 的独特易感基因座，但它可能是一个很好的标记，因为该 SNP 的次要等位基因在此处的患者组中比在整个东亚人中更常见。