HLA Association With AQP4-IgG-Positive Neuromyelitis Optica Spectrum Disorder in the Korean Population.

IF 7.8 1区医学 Q1 CLINICAL NEUROLOGY Neurology® Neuroimmunology & Neuroinflammation Pub Date : 2025-05-01 Epub Date: 2025-02-28 DOI:10.1212/NXI.0000000000200366

Jae-Won Hyun, Sinae Kim, Jangsup Moon, Na Young Park, You-Ri Kang, Ki Hoon Kim, Su-Hyun Kim, Ho Jin Kim

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Abstract

Background and objectives: Association of human leukocyte antigen (HLA) with anti-aquaporin-4 immunoglobulin G-positive neuromyelitis optica spectrum disorder (AQP4-IgG NMOSD) has been reported. However, this association in the Korean population has not been previously investigated. We aimed to evaluate whether specific HLA subtypes were associated with Korean patients with AQP4-IgG NMOSD and whether the HLA genotype is associated with specific clinical features.

Methods: We compared the HLA subtypes of 122 patients with AQP4-IgG NMOSD with those of 485 (HLA-A, HLA-B, HLA-C, HLA-DRB1, and HLA-DQB1) and 173 (HLA-DPB1) healthy controls. In addition, we compared the clinical features of patients with and without specific HLA genotypes.

Results: The most significant risk allele for AQP4-IgG NMOSD was HLA-DRB1*03:01 (24 patients [19.67%], odds ratio [OR]: 3.997, p_c value = 0.0001). Susceptibility of AQP4-IgG NMOSD was significantly associated with the HLA-DRB1*03:01-DQB1*02:01 (23 patients [18.85%], OR: 3.792, p_c value = 0.0002) and DRB1*12:02-DQB1*03:01 (23 patients [18.85%], OR: 3.402, p_c value = 0.0009) haplotypes. Patients with the DRB1*12:02-DQB1*03:01 haplotype showed more frequent spinal involvement, a higher Expanded Disability Status Scale score at disease-onset nadir, and a shorter time to second attack than patients without this haplotype.

Discussion: In a Korean cohort of patients withAQP4-IgG NMOSD, the HLA-DRB1*12:02-DQB1*03:01 haplotype was associated with disease severity at onset. HLA-DRB1*03:01, broadly reported as a significant susceptibility allele across diverse ethnic groups, showed a significant risk association in Korean patients with AQP4-IgG NMOSD.

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背景和目的：人类白细胞抗原（HLA）与抗喹波蛋白-4 免疫球蛋白 G 阳性神经脊髓炎视谱系障碍（AQP4-IgG NMOSD）的相关性已有报道。然而，此前尚未在韩国人群中调查过这种关联。我们旨在评估特定的 HLA 亚型是否与 AQP4-IgG NMOSD 韩国患者相关，以及 HLA 基因型是否与特定的临床特征相关：我们比较了122例AQP4-IgG NMOSD患者与485例（HLA-A、HLA-B、HLA-C、HLA-DRB1和HLA-DQB1）和173例（HLA-DPB1）健康对照者的HLA亚型。此外，我们还比较了具有和不具有特定 HLA 基因型的患者的临床特征：结果：AQP4-IgG NMOSD 最重要的风险等位基因是 HLA-DRB1*03:01（24 名患者 [19.67%]，几率比 [OR]：3.997，pc 值 = 0.0001）。AQP4-IgG NMOSD 的易感性与 HLA-DRB1*03:01-DQB1*02:01 （23 名患者 [18.85%]，OR：3.792，pc 值 = 0.0002）和 DRB1*12:02-DQB1*03:01 （23 名患者 [18.85%]，OR：3.402，pc 值 = 0.0009）单倍型显著相关。与没有DRB1*12:02-DQB1*03:01单倍型的患者相比，DRB1*12:02-DQB1*03:01单倍型的患者脊柱受累的频率更高，发病时的扩展残疾状况量表评分更高，第二次发病的时间更短：讨论：在韩国的一组AQP4-IgG NMOSD患者中，HLA-DRB1*12:02-DQB1*03:01单倍型与发病时的疾病严重程度有关。HLA-DRB1*03:01被广泛报道为不同种族群体的重要易感等位基因，在韩国AQP4-IgG NMOSD患者中显示出显著的风险关联性。

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

Neurology® Neuroimmunology & Neuroinflammation Neuroscience-Neurology

CiteScore

15.60

自引率

2.30%

发文量

219

审稿时长

8 weeks

期刊介绍： Neurology Neuroimmunology & Neuroinflammation is an official journal of the American Academy of Neurology. Neurology: Neuroimmunology & Neuroinflammation will be the premier peer-reviewed journal in neuroimmunology and neuroinflammation. This journal publishes rigorously peer-reviewed open-access reports of original research and in-depth reviews of topics in neuroimmunology & neuroinflammation, affecting the full range of neurologic diseases including (but not limited to) Alzheimer's disease, Parkinson's disease, ALS, tauopathy, and stroke; multiple sclerosis and NMO; inflammatory peripheral nerve and muscle disease, Guillain-Barré and myasthenia gravis; nervous system infection; paraneoplastic syndromes, noninfectious encephalitides and other antibody-mediated disorders; and psychiatric and neurodevelopmental disorders. Clinical trials, instructive case reports, and small case series will also be featured.