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
{"title":"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","authors":"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","doi":"10.1177/13524585251336641","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Internationally, specific human leukocyte antigen (HLA) class II alleles have been associated with neuromyelitis optica spectrum disorder (NMOSD) risk.</p><p><strong>Objective: </strong>To establish the association between HLA class II alleles and NMOSD in a Colombian population, while considering genetic ancestry.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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, <i>p</i> < 0.0023), while the HLA-DQB1*03 allele was associated with a protective effect (OR = 0.23, CI: 0.12-0.46, <i>p</i> < 0.0023).</p><p><strong>Conclusion: </strong>HLA-DQB1*04 allele may increase susceptibility to NMOSD, while DQB1*03 allele could exert a protective effect in our population.</p>","PeriodicalId":520714,"journal":{"name":"Multiple sclerosis (Houndmills, Basingstoke, England)","volume":" ","pages":"922-931"},"PeriodicalIF":5.0000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The association of HLA-DQB1*04 and DQB1*03 with neuromyelitis optica spectrum disorders: A case-control study considering genetic ancestry.\",\"authors\":\"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\",\"doi\":\"10.1177/13524585251336641\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Internationally, specific human leukocyte antigen (HLA) class II alleles have been associated with neuromyelitis optica spectrum disorder (NMOSD) risk.</p><p><strong>Objective: </strong>To establish the association between HLA class II alleles and NMOSD in a Colombian population, while considering genetic ancestry.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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, <i>p</i> < 0.0023), while the HLA-DQB1*03 allele was associated with a protective effect (OR = 0.23, CI: 0.12-0.46, <i>p</i> < 0.0023).</p><p><strong>Conclusion: </strong>HLA-DQB1*04 allele may increase susceptibility to NMOSD, while DQB1*03 allele could exert a protective effect in our population.</p>\",\"PeriodicalId\":520714,\"journal\":{\"name\":\"Multiple sclerosis (Houndmills, Basingstoke, England)\",\"volume\":\" \",\"pages\":\"922-931\"},\"PeriodicalIF\":5.0000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Multiple sclerosis (Houndmills, Basingstoke, England)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/13524585251336641\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/5/26 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Multiple sclerosis (Houndmills, Basingstoke, England)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/13524585251336641","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/5/26 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
The association of HLA-DQB1*04 and DQB1*03 with neuromyelitis optica spectrum disorders: A case-control study considering genetic ancestry.
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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