Tuwir Ismail, Dunne Ciaran, Crowley John, Saddik Tarik, Murphy Ray, Cassidy Lorraine
The Royal Victoria Eye and Ear Hospital, Adelaide Road, Dublin 2, Ireland.
Br J Ophthalmol. 2007 Oct;91(10):1288-92. doi: 10.1136/bjo.2006.109371.
To investigate the role of the major histocompatibility complex in Irish patients with optic neuritis (ON) and determine whether HLA-DRB1 genotypes are a risk factor for the development of multiple sclerosis (MS) in such patients.
All patients were Caucasian, had Irish ancestry and had MRI of brain and optic nerves within 2-3 weeks of presentation. Patients were referred to a neurologist if MRI findings were consistent with a diagnosis of MS. HLA-DRB1 allele and phenotype frequencies for 78 patients with a clinical diagnosis of acute ON were compared with those for 250 healthy bone marrow donors.
An ON/MS positive patient was 3.4 times more likely than an ON/MS negative patient to be DRB1*15 positive. No difference in age profile was detected between ON/MS positive and ON/MS negative patients or between the ON male and female subgroups. No gender or HLA-DRB1 association was identified for ON/MS negative patients. Female gender was significantly increased among ON/MS positive patients with a p value of 0.0053.
DRB115 is a significant predisposing factor for ON. This ON patient cohort has also provided an opportunity to evaluate the relationship of HLA genotype with the risk of MS development. The findings of this study indicate that Irish individuals presenting with ON and who are HLA DRB115 positive have a higher risk than HLA DRB1*15 negative patients of presenting with MRI findings indicative of MS. This study has also demonstrated that female gender is a risk factor for developing MS in the Irish population.
研究主要组织相容性复合体在爱尔兰视神经炎（ON）患者中的作用，并确定HLA - DRB1基因型是否为此类患者发生多发性硬化症（MS）的危险因素。
所有患者均为白种人，有爱尔兰血统，在就诊后2 - 3周内接受了脑部和视神经的磁共振成像（MRI）检查。如果MRI结果与MS诊断一致，患者会被转诊给神经科医生。将78例临床诊断为急性ON的患者的HLA - DRB1等位基因和表型频率与250例健康骨髓供体的进行比较。
ON/MS阳性患者DRB1*15阳性的可能性是ON/MS阴性患者的3.4倍。ON/MS阳性和阴性患者之间或ON男性和女性亚组之间在年龄分布上未检测到差异。对于ON/MS阴性患者，未发现性别与HLA - DRB1之间的关联。在ON/MS阳性患者中，女性比例显著增加，p值为0.0053。
DRB115是ON的一个重要易感因素。这个ON患者队列也提供了一个机会来评估HLA基因型与MS发生风险的关系。本研究结果表明，患有ON且HLA DRB115阳性的爱尔兰个体比HLA DRB1*15阴性患者出现提示MS的MRI表现的风险更高。本研究还表明，女性性别是爱尔兰人群发生MS的一个危险因素。
