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CD1 gene polymorphism and susceptibility to celiac disease: Association of CD1E*02/02 in Moroccans.
Human Immunology ( IF 3.1 ) Pub Date : 2020-05-25 , DOI: 10.1016/j.humimm.2020.05.005
Anna Aureli 1 , Sara Aboulaghras 2 , Khadija Oumhani 2 , Tiziana Del Beato 1 , Pierluigi Sebastiani 1 , Alessia Colanardi 1 , Rajae El Aouad 3 , Imane Ben El Barhdadi 4 , Daniela Piancatelli 1
Affiliation  

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 CD1E*02/02 homozygous (OR 2.93, CI 1.30-6.59, p = 0.007) and CD1A*02-E*02 estimated haplotypes in CD, compared with controls. Frequencies of CD1A and CD1D genotypes/alleles were not different between groups. CD1E*02/02, previously suggested as a potential immune protective genotype to malaria susceptibility, could be an additional gene involved in celiac risk in this geographic area.



中文翻译:

CD1基因多态性和对乳糜泻的易感性:摩洛哥人CD1E * 02/02的关联。

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)以进行免疫识别。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。种族差异和遗传因素与环境因素之间的相互作用使得对这些分子进行自身免疫性炎性疾病(如腹腔疾病(CD))的研究很有吸引力,其中乳糜泻(CDA)具有很强的遗传易感性(HLA-DQ2 / DQ8),而环境因素的压力很大核心作用。使用直接测序分析法,对摩洛哥患有CD的患者进行了直接测序分析,评估了外显子2中CD1A,CD1D和CD1E的多态性,以调查其与北非人群中该疾病的可能关联。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,CD1E * 02/02纯合子(OR 2.93,CI 1.30-6.59,p = 0.007)和CD1A * 02-E * 02估计增加与对照相比,CD中的单倍型。组之间CD1A和CD1D基因型/等位基因的频率无差异。CD1E * 02/02,以前被认为是对疟疾易感性的潜在免疫保护基因型,可能是该地区涉及腹腔疾病风险的另一个基因。

更新日期:2020-05-25
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