Fernández O, Fernández V, Alonso A, Caballero A, Luque G, Bravo M, León A, Mayorga C, Leyva L, de Ramón E
Dept. of Neurology, Hospital Regional Universitario Carlos Haya, Avda. Carlos Haya s/n, 29010 Malaga, Spain.
J Neurol. 2004 Apr;251(4):440-4. doi: 10.1007/s00415-004-0350-2.
The human leukocyte antigen (HLA) class II DR2 haplotype (DRB11501, DQA10102, DQB1*0602) has been associated with multiple sclerosis (MS) in all ethnic groups and very strongly in Caucasians.
To investigate the possible HLA class II (DRB1, DQA1 and DQB1) associations with MS in Malaga, southern Spain.
We analysed the HLA class II sub-regions DRB1, DQA1 and DQB1 by polymerase chain reaction (PCR) and sequence-specific oligonucleotide probe hybridization (PCR/SSO) for DRB1 and DQB1 and with sequence-specific primers (PCR/SSP) for DRB1 subtypes and DQA1. Possible HLA class II associations with clinical MS characteristics were investigated in 149 subjects with and 160 without MS.
Associations were detected between MS and the HLA class II alleles DRB11501 (45.6 % vs. 21.3%, p=0.001), DQA10102 (44% vs. 29.4%, p=0.001) and DQB10602 (45% vs. 20.6%, p=0.001). The DR2 haplotype (DRB11501, DQA10102, DQB10602) was associated with MS (43.6 % vs. 20%, p=0.002). DQB1*0602 was the only allele that maintained an association with MS in a logistic regression model. No HLA class II alleles or genotypes were significantly associated with any clinical characteristics of MS.
Our results confirm the positive association of the DR2 haplotype with MS, particularly the allele DQB1*0602, in the population studied. DR4 was not associated with the disease in Malaga. HLA class II alleles or haplotypes were not associated with clinical or demographic characteristics, or clinical form or severity of MS.
人类白细胞抗原（HLA）II类DR2单倍型（DRB11501、DQA10102、DQB1*0602）在所有种族中均与多发性硬化症（MS）相关，在白种人中关联非常强烈。
调查西班牙南部马拉加地区HLA II类（DRB1、DQA1和DQB1）与MS之间可能存在的关联。
我们通过聚合酶链反应（PCR）和序列特异性寡核苷酸探针杂交（PCR/SSO）分析HLA II类亚区域DRB1和DQB1，并通过序列特异性引物（PCR/SSP）分析DRB1亚型和DQA1。在149例患有MS的受试者和160例未患MS的受试者中，研究了HLA II类与临床MS特征之间可能存在的关联。
检测到MS与HLA II类等位基因DRB11501（45.6%对21.3%，p = 0.001）、DQA10102（44%对29.4%，p = 0.001）和DQB10602（45%对20.6%，p = 0.001）之间存在关联。DR2单倍型（DRB11501、DQA10102、DQB10602）与MS相关（43.6%对20%，p = 0.002）。在逻辑回归模型中，DQB1*0602是唯一与MS保持关联的等位基因。没有HLA II类等位基因或基因型与MS的任何临床特征显著相关。
我们的结果证实了在所研究人群中DR2单倍型与MS呈正相关，尤其是等位基因DQB1*0602。在马拉加，DR4与该疾病无关。HLA II类等位基因或单倍型与MS的临床或人口统计学特征、临床类型或严重程度无关。
