The association of HLA-DQB104 and DQB103 with neuromyelitis optica spectrum disorders: A case-control study considering genetic ancestry.

IF 5

Multiple sclerosis (Houndmills, Basingstoke, England) Pub Date : 2025-07-01 Epub Date: 2025-05-26 DOI:10.1177/13524585251336641

Jaime Toro, Jairo Gaitán, Juliana Lago, Helena Groot, Juan Pablo Noriega, Daniela Sofia Rodriguez-Silva, Carolina Restrepo-Aristizábal, Cesar Franco, Mariana Torres-Bustamante, Angie Montejo, Luisa Márquez, Diana M Narváez, David Felipe Cuellar-Giraldo, Habib Moutran-Barroso, Fabian Cortés-Muñoz, Daniel León, Thomas Felipe Medina, Laura Andrea Serna-Corredor, Saúl Reyes

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Abstract

Background: Internationally, specific human leukocyte antigen (HLA) class II alleles have been associated with neuromyelitis optica spectrum disorder (NMOSD) risk.

Objective: To establish the association between HLA class II alleles and NMOSD in a Colombian population, while considering genetic ancestry.

Methods: A multicenter case-control study was conducted with NMOSD patients diagnosed with the 2015 Wingerchuk criteria. HLA-DRB1 and HLA-DQB1 alleles were identified using sequence-specific primer polymerase chain reaction (SSP-PCR). Mitochondrial hypervariable region 1 was amplified, and haplogroups were determined with HaploGrep software. Genomic ancestry was assessed with ancestry-informative markers. Associations between HLA polymorphisms and NMOSD were analyzed using logistic regression models.

Results: In total, 82 patients with NMOSD (mean age 43.8 ± 13.3 years; 83% females) and 164 controls (mean age 36.4 ± 11.5 years; 85% females) were enrolled. Mitochondrial haplogroup frequencies were similar between groups. Ancestry analysis revealed distinct population structures. In multivariable logistic regression, the HLA-DQB1*04 allele was significantly associated with increased NMOSD risk (odds ratio (OR) = 3.16, confidence interval (CI): 1.58-6.34, p < 0.0023), while the HLA-DQB1*03 allele was associated with a protective effect (OR = 0.23, CI: 0.12-0.46, p < 0.0023).

Conclusion: HLA-DQB1*04 allele may increase susceptibility to NMOSD, while DQB1*03 allele could exert a protective effect in our population.

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HLA-DQB1*04和DQB1*03与视神经脊髓炎谱系障碍的关系：考虑遗传血统的病例对照研究

背景：国际上，特异性人类白细胞抗原（HLA） II类等位基因与视神经脊髓炎谱系障碍（NMOSD）风险相关。目的：在考虑遗传血统的情况下，在哥伦比亚人群中建立HLA II类等位基因与NMOSD之间的关系。方法：对符合2015年Wingerchuk标准的NMOSD患者进行多中心病例对照研究。采用序列特异性引物聚合酶链反应（SSP-PCR）鉴定HLA-DRB1和HLA-DQB1等位基因。扩增线粒体高变区1，用HaploGrep软件测定单倍群。用遗传信息标记评估基因组祖先。采用logistic回归模型分析HLA多态性与NMOSD之间的关系。结果：共82例NMOSD患者(平均年龄43.8±13.3岁；女性83%)，对照组164人(平均年龄36.4±11.5岁；85%为女性)。两组间线粒体单倍群频率相似。祖先分析揭示了不同的种群结构。在多变量logistic回归中，HLA-DQB1*04等位基因与NMOSD风险增加显著相关(优势比（OR) = 3.16，置信区间（CI）： 1.58 ~ 6.34, p < 0.0023）， HLA-DQB1*03等位基因与NMOSD风险增加显著相关（OR = 0.23, CI: 0.12 ~ 0.46, p < 0.0023）。结论：HLA-DQB1*04等位基因可增加NMOSD的易感性，而DQB1*03等位基因可在人群中发挥保护作用。

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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Multiple sclerosis (Houndmills, Basingstoke, England)

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