Dahmani C A, Benzaoui A, Amroun H, Mecabih F, Sediki F Z, Zemani-Fodil F, Fodil M, Boughrara W, Mecheti B, Attal N, Mehtar N, Petit-Teixeira E, Boudjema A
Laboratoire de Génétique Moléculaire et Cellulaire (LGMC), Université des Sciences et de la Technologie d'Oran-Mohamed Boudiaf (USTO-MB), Oran, Algeria.
Service de Rhumatologie, Centre Hospitalo-Universitaire (CHU) d'Oran, Oran, Algeria.
Int J Immunogenet. 2018 Jun;45(3):109-117. doi: 10.1111/iji.12369. Epub 2018 Apr 19.
Ankylosing spondylitis (AS) is a complex inflammatory disease that represents a major health problem both in Algeria and worldwide. Several lines of evidence support that genetic risk factors play a role in AS etiology and the CTLA4 gene has attracted a considerable attention. In this study, we were interested in evaluating the HLA-B27 frequency and in exploring the CTLA4 gene in a sample of the North African population. The dataset of the current study is composed of 81 patients with AS and 123 healthy controls. All samples were genotyped by TaqMan allelic discrimination assay. The genetic risk of the HLA-B27 specificity and the CTLA4/CT60 polymorphism were assessed by odds ratios (OR) with 95% confidence intervals (CI). High spondylitis risk was detected for HLA-B27 allele (OR= 14.62, p = 10 ) in addition to a significant association of the CT60G allele (OR= 1.89, p = .002). After gender and age stratifications, the association of the CT60G allele was still significant in females sample (OR= 2.10, p = .001) and when age up to 30 years (OR = 2.21, p = .008). Interestingly, the CT60*G allele revealed an increased spondylitis risk in the B27 negative group (OR= 2.81, p = .006). The present work showed in West Algerian population that the HLA-B27 antigen and the variation in the CTLA4 3'UTR region played an important role in the ankylosing spondylitis susceptibility. The heterogeneity of this disease is deduced by genetic difference found between B27+ and B27- groups.
强直性脊柱炎（AS）是一种复杂的炎症性疾病，在阿尔及利亚乃至全球都是一个重大的健康问题。多项证据支持遗传风险因素在AS病因中起作用，细胞毒性T淋巴细胞相关抗原4（CTLA4）基因已引起了相当大的关注。在本研究中，我们旨在评估北非人群样本中HLA - B27的频率，并探索CTLA4基因。本研究的数据集由81例AS患者和123名健康对照组成。所有样本均通过TaqMan等位基因鉴别分析进行基因分型。通过比值比（OR）及95%置信区间（CI）评估HLA - B27特异性和CTLA4 / CT60多态性的遗传风险。除了CT60G等位基因有显著关联（OR = 1.89，p = 0.002）外，还检测到HLA - B27等位基因的高脊柱炎风险（OR = 14.62，p = 10）。在按性别和年龄分层后，CT60G等位基因在女性样本中（OR = 2.10，p = 0.001）以及年龄在30岁及以下时（OR = 2.21，p = 0.008）的关联仍然显著。有趣的是，CT60*G等位基因在B27阴性组中显示出增加的脊柱炎风险（OR = 2.81，p = 0.006）。目前的研究表明，在阿尔及利亚西部人群中，HLA - B27抗原和CTLA4 3'非翻译区的变异在强直性脊柱炎易感性中起重要作用。该疾病的异质性可通过B27阳性和B27阴性组之间发现的基因差异推断得出。
