Identification of Genetic Variations in HLA Region for Kidney Functions

IF 5.9 4区医学 Q2 CELL BIOLOGY

HLA Pub Date : 2025-06-23 DOI:10.1111/tan.70284

Wan-Hsuan Chou, Chun-Yu Wei, Min-Rou Lin, Che-Mai Chang, Stephen B. Gruber, Mai-Szu Wu, Wei-Chiao Chang

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引用次数: 0

Abstract

HLA allelic polymorphisms are associated with a variety of kidney-related traits in different populations. Although Taiwanese-specific genetic variants associated with kidney function have been reported, the role of HLA alleles is unclear. In this study, the association between eGFR and genetic variations in the HLA region was explored in a cohort of 59,448 Taiwanese subjects. A total of 448 genetic variations in the HLA region are significantly associated with eGFR. HLA-C*03 is associated with decreased eGFR, while HLA-DQA1*03, HLA-DQB1*03:03 and HLA-DQB1*03:03:02 demonstrated protective effects. Moreover, amino acid changes on HLA-C and HLA-DRB1 are significantly associated with eGFR. Finally, the eGFR-associated single nucleotide variations (SNVs) and insertions and deletions (indels) are enriched in the HLA-DQB1 gene. After conditional analysis, we identified two independent signals, including rs2853941, rs3830060. In summary, this study highlights the role of HLA-C, HLA-DQA1, HLA-DQB1 and HLA-DRB1 variations in kidney function in the Taiwan Han Chinese population.

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肾脏功能HLA区域遗传变异的鉴定

HLA等位基因多态性在不同人群中与多种肾脏相关性状相关。虽然台湾特有的与肾脏功能相关的遗传变异已被报道，但HLA等位基因的作用尚不清楚。本研究以59,448名台湾受试者为研究对象，探讨eGFR与HLA区域遗传变异之间的关系。HLA区域共有448种遗传变异与eGFR显著相关。HLA-C*03与eGFR降低相关，HLA-DQA1*03、HLA-DQB1*03:03和HLA-DQB1*03:03:02具有保护作用。此外，HLA-C和HLA-DRB1上的氨基酸变化与eGFR显著相关。最后，egfr相关的单核苷酸变异（snv）和插入缺失（indel）在HLA-DQB1基因中富集。经过条件分析，我们确定了两个独立的信号，rs2853941, rs3830060。总之，本研究强调了HLA-C、HLA-DQA1、HLA-DQB1和HLA-DRB1变异在台湾汉族人群肾功能中的作用。

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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来源期刊

HLA Immunology and Microbiology-Immunology

CiteScore

3.00

自引率

28.80%

发文量

368

期刊介绍： HLA, the journal, publishes articles on various aspects of immunogenetics. These include the immunogenetics of cell surface antigens, the ontogeny and phylogeny of the immune system, the immunogenetics of cell interactions, the functional aspects of cell surface molecules and their natural ligands, and the role of tissue antigens in immune reactions. Additionally, the journal covers experimental and clinical transplantation, the relationships between normal tissue antigens and tumor-associated antigens, the genetic control of immune response and disease susceptibility, and the biochemistry and molecular biology of alloantigens and leukocyte differentiation. Manuscripts on molecules expressed on lymphoid cells, myeloid cells, platelets, and non-lineage-restricted antigens are welcomed. Lastly, the journal focuses on the immunogenetics of histocompatibility antigens in both humans and experimental animals, including their tissue distribution, regulation, and expression in normal and malignant cells, as well as the use of antigens as markers for disease.