Aureli Anna, Aboulaghras Sara, Oumhani Khadija, Del Beato Tiziana, Sebastiani Pierluigi, Colanardi Alessia, El Aouad Rajae, Ben El Barhdadi Imane, Piancatelli Daniela
National Research Council (CNR)-Institute of Translational Pharmacology (IFT), L'Aquila, Italy.
Laboratoire d'Immunologie, Institut National d'Hygiene, Rabat, Morocco.
Hum Immunol. 2020 Jul;81(7):361-365. doi: 10.1016/j.humimm.2020.05.005. Epub 2020 May 25.
CD1 glycoproteins are a class of antigen presenting molecules that bind and present non-peptidic antigens (lipids and glycolipids) for immune recognition. CD1 polymorphisms, although limited, could have a critical role in antimicrobial, anticancer, and autoimmune responses and disease susceptibility. Ethnic differences and interactions between genetic and environmental factors make it attractive the study of these molecules in autoimmune inflammatory disorders, such as celiac disease (CD), in which a strong genetic predisposition (HLA-DQ2/DQ8) and pressure of environmental factors have a central role. CD1A, CD1D and CD1E polymorphisms in exon 2 were assessed in patients from Morocco affected by CD, using direct sequencing analysis, in order to investigate possible associations with the disease in a North African population. Differences in genotype and haplotype distribution of CD1E between celiac patients and controls were found: in particular, an increase of CD1E02/02 homozygous (OR 2.93, CI 1.30-6.59, p = 0.007) and CD1A02-E02 estimated haplotypes in CD, compared with controls. Frequencies of CD1A and CD1D genotypes/alleles were not different between groups. CD1E02/02, previously suggested as a potential immune protective genotype to malaria susceptibility, could be an additional gene involved in celiac risk in this geographic area.
CD1糖蛋白是一类抗原呈递分子,可结合并呈递非肽类抗原(脂质和糖脂)以供免疫识别。CD1多态性虽然有限,但可能在抗菌、抗癌和自身免疫反应以及疾病易感性中起关键作用。种族差异以及遗传和环境因素之间的相互作用,使得在自身免疫性炎症性疾病(如乳糜泻(CD))中研究这些分子具有吸引力,在乳糜泻中,强烈的遗传易感性(HLA-DQ2/DQ8)和环境因素的影响起着核心作用。为了研究与北非人群中该疾病的可能关联,使用直接测序分析评估了摩洛哥受CD影响患者外显子2中的CD1A、CD1D和CD1E多态性。发现乳糜泻患者和对照组之间CD1E的基因型和单倍型分布存在差异:特别是,与对照组相比,CD中CD1E02/02纯合子(OR 2.93,CI 1.30 - 6.59,p = 0.007)和CD1A02 - E02估计单倍型增加。两组之间CD1A和CD1D基因型/等位基因的频率没有差异。CD1E02/02先前被认为是对疟疾易感性具有潜在免疫保护作用的基因型,可能是该地理区域中参与乳糜泻风险的另一个基因。