Fekih Mrissa Najiba, Mrad Meriem, Ouertani Haroun, Baatour Makrem, Sayeh Aycha, Nsiri Brahim, Lamine Khaled, Zidi Borni, Gritli Nasreddine
Laboratory of Molecular Biology, Department of Hematology, Military Hospital of Tunisia, Tunisia.
Transfus Apher Sci. 2013 Oct;49(2):200-4. doi: 10.1016/j.transci.2013.01.012. Epub 2013 Feb 9.
Type 1 diabetes (T1D) is a polygenic disease whose principal locus is the human leukocytes antigen (HLA) region. The aim of this study was to evaluate HLA DR-DQ alleles and to asses them as risk factors for type 1 diabetes in the Tunisian population.
A total of 119 subjects with diabetes were tested for HLA class II alleles and compared with 292 healthy controls. HLA DRB1 and DQB1 alleles were genotyped using polymerase chain reaction sequence-specific primers (PCR-SSPs).
The results revealed that the most susceptible haplotypes are the DRB1()03-DQB1()02 (pc<10(-3)) and DRB1()0401-DQB1()0302 (pc=0.001). (pc denotes Bonferroni corrected probability values.) The most protective haplotypes are DRB1()11-DQB1()03, DRB1()07-DQB1()02, and DRB1()13-DQB1()06 (pc=0.0026, pc=0.0065, and pc=0.02 respectively). Our results showed some particularities unique to Tunisians, there was a lack of a significant protective effect of the DRB1()15-DQB1()06 haplotype that usually is the dominant combination associated with protection in most other populations.
Tunisian diabetic patients share the most susceptible and protective HLA haplotypes with Caucasians and those in neighbor Mediterranean countries. This is most likely explained by the history and admixture events of Tunisia and North Africa.
1型糖尿病（T1D）是一种多基因疾病，其主要基因座是人类白细胞抗原（HLA）区域。本研究的目的是评估HLA DR - DQ等位基因，并将其作为突尼斯人群中1型糖尿病的风险因素进行评估。
对119名糖尿病患者进行HLA II类等位基因检测，并与292名健康对照者进行比较。使用聚合酶链反应序列特异性引物（PCR - SSPs）对HLA DRB1和DQB1等位基因进行基因分型。
结果显示，最易感单倍型是DRB1（）03 - DQB1（）02（pc<10⁻³）和DRB1（）0401 - DQB1（）0302（pc = 0.001）。（pc表示经Bonferroni校正的概率值。）最具保护作用的单倍型是DRB1（）11 - DQB1（）03、DRB1（）07 - DQB1（）02和DRB1（）13 - DQB1（）06（分别为pc = 0.0026、pc = 0.0065和pc = 0.02）。我们的结果显示了突尼斯人特有的一些特点，DRB1（）15 - DQB1（）06单倍型通常在大多数其他人群中是与保护相关的主要组合，但在突尼斯人群中缺乏显著的保护作用。
突尼斯糖尿病患者与白种人和邻近地中海国家的人群共享最易感和最具保护作用的HLA单倍型。这很可能是由突尼斯和北非的历史及混合事件所解释的。
