The Multiple Sclerosis Clinic of Southern Jutland, Sonderborg, Denmark.
Mult Scler. 2012 Jan;18(1):23-30. doi: 10.1177/1352458511417480. Epub 2011 Sep 9.
Neuromyelitis optica (NMO) is a disease with autoimmune characteristics. A genetic autoimmune dependency for NMO has not been clarified in detail.
To investigate immunogenetic aspects of NMO.
Forty-one patients with NMO and 42 patients with multiple sclerosis (MS) were diagnosed in a population-based Caucasian cohort. HLA DQA1, DQB1, and DRB1 alleles were determined. Polymorphisms in programmed death 1 (PD-1) PD-1.3 G/A and protein tyrosine phosphatase non-receptor 22 (PTPN22) 1858 C/T were genotyped.
In the NMO group 15% had other autoimmune disorders and 39% had family occurrence of autoimmunity, comparable to MS. A higher frequency of a family history (17%) of NMO and MS was found in the NMO group (p < 0.026). The frequency of HLA-DQB10402 allele was increased in NMO (p after Bonferroni correction, cp < 0.035) and the HLA-DRB115 and DQB1*06 alleles were increased in MS (cp < 0.0027, cp < 0.01), compared to controls. No associations of the PTPN22 1858 T were detected. The PD-1.3A allele was increased both in NMO (p < 0.0023) and in MS patients (p < 0.028) compared to controls.
Patients with NMO had frequent co-existence of autoimmunity and family occurrence of NMO and MS. The PD-1.3A allele was associated with NMO. The data suggest genetic autoimmune dependency of NMO.
视神经脊髓炎（NMO）是一种具有自身免疫特征的疾病。NMO 的遗传自身免疫依赖性尚未详细阐明。
研究 NMO 的免疫遗传学方面。
在基于人群的白种人群队列中诊断了 41 名 NMO 患者和 42 名多发性硬化症（MS）患者。确定了 HLA DQA1、DQB1 和 DRB1 等位基因。对程序性死亡 1（PD-1）PD-1.3G/A 和蛋白酪氨酸磷酸酶非受体 22（PTPN22）1858C/T 多态性进行了基因分型。
在 NMO 组中，15%有其他自身免疫性疾病，39%有自身免疫家族史，与 MS 相当。在 NMO 组中，发现 NMO 和 MS 的家族史（17%）更高（p<0.026）。与对照组相比，NMO 中 HLA-DQB10402 等位基因的频率增加（经 Bonferroni 校正后 p<0.035），MS 中 HLA-DRB115 和 DQB1*06 等位基因的频率增加（cp<0.0027，cp<0.01）。未发现 PTPN22 1858T 的关联。与对照组相比，NMO（p<0.0023）和 MS 患者（p<0.028）中 PD-1.3A 等位基因均增加。
NMO 患者自身免疫性疾病共存和 NMO 和 MS 家族史频繁发生。PD-1.3A 等位基因与 NMO 相关。这些数据表明 NMO 存在遗传自身免疫依赖性。
