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使用来自IgAN患者的诱导多能干细胞的全基因组关联研究确定了潜在的相关性评估。

IF 3.1 4区医学 Q3 IMMUNOLOGY

Immunobiology Pub Date : 2026-07-01 Epub Date: 2026-06-11 DOI:10.1016/j.imbio.2026.153203

Akira Mima, Hirofumi Morihara

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引用次数: 0

摘要

目前尚不清楚与炎症和线粒体功能相关的基因突变是否参与免疫球蛋白A肾病（IgAN）的进展和恶化。在这项研究中，我们旨在研究IgAN的遗传背景。全基因组关联研究（GWAS）使用四种人类诱导多能干细胞（hiPSCs）系进行，这些干细胞系来自两名患有IgAN（可能是IgAN）和微小变化疾病的患者。与来自微小变化疾病的hiPSCs相比，来自IgAN或可能IgAN患者的hiPSCs中有4641个单核苷酸多态性（snp）。我们发现了比源自微小变化疾病的hipsc中表达频率更高的基因。我们发现了与炎症（115个SNPs）、氧化应激（29个SNPs）、纤维化（10个SNPs）和线粒体功能（158个SNPs）显著相关的snp抑制基因。我们的GWAS使用来自IgAN或可能的IgAN患者的hiPSCs，表明这些突变可能与线粒体功能障碍、炎症和细胞外基质产生有关。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Potential correlation assessment identified by a genome-wide association study using induced pluripotent stem cells from patients with IgAN

It is unclear whether genetic mutations associated with inflammation and mitochondrial function are involved in the progression and exacerbation of immunoglobulin A nephropathy (IgAN). In this study, we aimed to investigate the IgAN genetic background.

Genome-wide association studies (GWAS) were performed using four lines of human-induced pluripotent stem cells (hiPSCs) established from two patients with IgAN, possible IgAN, and minimal change disease.

There were 4641 single nucleotide polymorphisms (SNPs) in hiPSCs derived from patients with IgAN or possible IgAN compared to those in hiPSCs derived from minimal change disease as a control. We identified genes expressed more frequently than those in hiPSCs derived from minimal change disease. We identified SNP-inhibited genes that were significantly associated with inflammation (115 SNPs), oxidative stress (29 SNPs), fibrosis (10 SNPs), and mitochondrial function (158 SNPs).

Our GWAS, using hiPSCs derived from patients with IgAN or possible IgAN, indicated that these mutations may be linked to mitochondrial dysfunction, inflammation, and extracellular matrix production.

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来源期刊

Immunobiology

Immunobiology 医学-免疫学

CiteScore

5.00

自引率

3.60%

发文量

108

审稿时长

55 days

期刊介绍： Immunobiology is a peer-reviewed journal that publishes highly innovative research approaches for a wide range of immunological subjects, including • Innate Immunity, • Adaptive Immunity, • Complement Biology, • Macrophage and Dendritic Cell Biology, • Parasite Immunology, • Tumour Immunology, • Clinical Immunology, • Immunogenetics, • Immunotherapy and • Immunopathology of infectious, allergic and autoimmune disease.

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