Marrosu M G, Muntoni F, Murru M R, Costa G, Congia M, Marrosu G, Aiello I, Pirastu M, Cianchetti C
Institute of Child Neurology and Psychiatry, University of Cagliari, Italy.
Arch Neurol. 1993 Mar;50(3):256-60. doi: 10.1001/archneur.1993.00540030022008.
To study the role of HLA genes in susceptibility and resistance to multiple sclerosis (MS) in Sardinian patients. To verify whether HLA-DQA and HLA-DQB genes differed between unrelated (MSU) and related (MSR) patients, and whether relapsing-remitting and chronic progressive forms of MS are immunogenetically distinct entities.
Case-control study of HLA-DQA and HLA-DQB gene frequency.
All patients investigated were followed up by our MS referral centers.
The study involved 116 MSU patients, 67 of whom had a relapsing-remitting form (MSr), 28 of whom had a chronic progressive from-the-onset form (MSc), and 21 of whom had a benign form (MSb), 32 patients with MSR, 19 parents and 27 healthy siblings of patients with MSR, and 86 controls. Selection of patients was random, while control subjects came from families without known immunologic diseases. All patients had definite MS.
Statistical analysis of gene frequencies was conducted with the chi 2 test with correction (Pc) for the alleles investigated, as was decided before the study began.
The DQA10301 allele was found to be increased in patients (MSU vs controls, Pc = .008; patients with MSc vs controls, Pc = .001; patients with MSR vs controls, Pc = .02; and parents vs controls, Pc = .04), while the DQA10102 allele was found to be diminished in patients with MSr vs controls (Pc = .001). Among the DQB genes, the DQB10502 allele was diminished in patients with MSr vs controls (Pc = .04), while the sum of DQB10201 and *0302 alleles was significantly increased in patients with MSR vs controls (Pc = .003).
Both HLA-DQA and HLA-DQB genes influence genetic susceptibility and resistance to MS. The roles of these genes differ in the various forms of MS. Patients with MSU and MSR both share HLA-DQA susceptibility genes.
研究HLA基因在撒丁岛患者对多发性硬化症（MS）易感性和抵抗力中的作用。验证无关（MSU）和相关（MSR）患者之间HLA - DQA和HLA - DQB基因是否存在差异，以及复发缓解型和慢性进展型MS在免疫遗传学上是否为不同的实体。
HLA - DQA和HLA - DQB基因频率的病例对照研究。
所有接受调查的患者均由我们的MS转诊中心进行随访。
该研究纳入了116例MSU患者，其中67例为复发缓解型（MSr），28例为慢性进展型起病形式（MSc），21例为良性形式（MSb）；32例MSR患者，19例MSR患者的父母和27例健康兄弟姐妹，以及86名对照。患者的选择是随机的，而对照受试者来自无已知免疫疾病的家庭。所有患者均患有明确的MS。
在研究开始前就已确定，对所研究的等位基因，采用校正卡方检验（Pc）对基因频率进行统计分析。
发现DQA10301等位基因在患者中增加（MSU与对照相比，Pc = 0.008；MSc患者与对照相比，Pc = 0.001；MSR患者与对照相比，Pc = 0.02；父母与对照相比，Pc = 0.04），而DQA10102等位基因在MSr患者与对照相比时减少（Pc = 0.001）。在DQB基因中，DQB10502等位基因在MSr患者与对照相比时减少（Pc = 0.04），而DQB10201和*0302等位基因的总和在MSR患者与对照相比时显著增加（Pc = 0.003）。
HLA - DQA和HLA - DQB基因均影响对MS的遗传易感性和抵抗力。这些基因在MS的不同形式中的作用有所不同。MSU和MSR患者都共享HLA - DQA易感基因。
