Department of Neurology, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, Telangana, India.
Department of Clinical Pharmacology and Therapeutics, Nizam's Institute of Medical Sciences (NIMS), Hyderabad, Telangana, India.
Neurol India. 2022 Jul-Aug;70(4):1481-1486. doi: 10.4103/0028-3886.355130.
Neuromyelitis optica (NMO) is an autoimmune demyelinating disorder, mainly characterized by severe optic neuritis, transverse myelitis and the high levels of antibodies against NMO-immunoglobulin G (IgG) or aquaporin-4 (AQP4). HLA-DR and HLA-DQ alleles within the HLA class II region on chromosome 6p21 are known to play a significant role in several autoimmune diseases including NMO. The rationale of the current case-control study is to explore the association of HLA-DRB1 and HLA-DQB1 alleles with the risk of NMO and its association with the clinical and serological markers.
A total of 158 samples (38 NMO cases and 120-age and ethnicity matched controls) were genotyped for the HLA-DRB1 and HLA-DQB1 alleles by using PCR-SSP method.
Our analysis showed significant association of HLA-DRB110 allele (OR 2.63, 95% CI: 1.18-5.83, p=0.02) with NMO whereas DRB114 showed protective role against NMO (OR 0.33: 95% CI: 0.11-0.94, p=0.043). HLA-DRB110 allele also showed significant association in patients with NMO-IgG positive antibody (OR 3.28: 95% CI: 1.42-7.5, p=0.006). There was no association of HLA DQB1 alleles with NMO and also with NMO-IgG antibody. Among the haplotypes groups, HLA-DRB110-DQB105 (OR 2.61, 95% CI: 1.11-6.1, p=0.03), HLA-DRB115-DQB103 (OR 4.5, 95% CI: 1.81-11.5, p=0.001) were strongly associated with the risk of NMO, whereas DRB114-DQB1*05 (OR 0.20, 95% CI: 0.060-0.721, p=0.008) showed negative association with NMO.
From this study, it is concluded that the HLA-DRB110 and DRB110-DQB105 and HLA-DRB115-DQB103 haplotypes may influence the susceptibility to NMO among the South Indians. Additionally we found DRB114 allele and DRB114-DQB105 haplotype showed protective role for NMO.
视神经脊髓炎（NMO）是一种自身免疫性脱髓鞘疾病，主要表现为严重的视神经炎、横贯性脊髓炎和抗 NMO-免疫球蛋白 G（IgG）或水通道蛋白-4（AQP4）抗体水平升高。HLA-DR 和 HLA-DQ 等位基因位于 6p21 染色体上的 HLA Ⅱ类区域，已知在包括 NMO 在内的多种自身免疫性疾病中发挥重要作用。本病例对照研究的原理是探讨 HLA-DRB1 和 HLA-DQB1 等位基因与 NMO 风险的相关性及其与临床和血清学标志物的相关性。
采用 PCR-SSP 法对 158 例样本（38 例 NMO 病例和 120 例年龄和种族匹配的对照）进行 HLA-DRB1 和 HLA-DQB1 等位基因分型。
我们的分析显示，HLA-DRB110 等位基因（OR 2.63，95%CI：1.18-5.83，p=0.02）与 NMO 显著相关，而 DRB114 则对 NMO 有保护作用（OR 0.33：95%CI：0.11-0.94，p=0.043）。HLA-DRB110 等位基因在 NMO-IgG 阳性抗体患者中也表现出显著相关性（OR 3.28：95%CI：1.42-7.5，p=0.006）。HLA-DQB1 等位基因与 NMO 及 NMO-IgG 抗体均无相关性。在单倍型组中，HLA-DRB110-DQB105（OR 2.61，95%CI：1.11-6.1，p=0.03）、HLA-DRB115-DQB103（OR 4.5，95%CI：1.81-11.5，p=0.001）与 NMO 风险显著相关，而 DRB114-DQB1*05（OR 0.20，95%CI：0.060-0.721，p=0.008）与 NMO 呈负相关。
本研究表明，HLA-DRB110 和 DRB110-DQB105 及 HLA-DRB115-DQB103 单倍型可能影响南印度人群 NMO 的易感性。此外，我们发现 DRB114 等位基因和 DRB114-DQB105 单倍型对 NMO 有保护作用。
