Kharrat Najla, Abdelhedi Rania, Gtif Imen, Ayadi Imen, Rizzo Roberta, Bortolotti Daria, Abdelmoula Nouha Bouayed, Ghribi Farhat, Rebai Ahmed, Zidi Ines
Laboratory of Molecular and Cellular Screening Process, Centre of Biotechnology of Sfax, Sfax University, Tunisia.
Research Unit: UR17ES36 Genomics of Signalopathies in the Service of Medicine, Sfax University, Medical University of Sfax, Tunisia.
Cent Eur J Immunol. 2020;45(2):176-183. doi: 10.5114/ceji.2020.97906. Epub 2020 Jul 27.
Autism spectrum disorders (ASD) are one of the most common childhood morbidities characterized by deficits in communication and social skills. Increasing evidence has suggested associations between immune genes located in the human leukocyte antigen (HLA) complex and etiology of autism. In this study, we investigated whether the non-classical class I HLA-G, -E, and -F polymorphisms are associated with genetic predisposition to autism in Tunisia. We aimed to find a correlation between HLA-G genotypes and soluble HLA-G (sHLA-G) levels. We have analyzed the HLA-G, -E, and -F genotypes of 15 autistic children and their parents. DNA typing of HLA class I genes was performed using PCR-SSP and PCR-RFLP methods. Also, we evaluated the serum levels of HLA-G (1 and 5) by a validated ELISA technique in autistic probands and their parents. No association was found between any polymorphism and autism in the study subjects. Additionally, we found no correlation between sHLA-G1 and sHLA-G5 and autism. Also, no significant difference in sHLA-G testing in parents and offspring was found. However, parents carrying [GG] genotype presented a higher sHLA-G levels than those carrying ([CC]+[GC]) genotypes (p = 0.037). From this preliminary study, we conclude that the investigated polymorphisms of HLA-G, -E, and -F genes did not lead to autism susceptibility in Tunisian children. However, the CGTIGA haplotype was found to be associated with the disease.
自闭症谱系障碍（ASD）是最常见的儿童疾病之一，其特征为沟通和社交技能缺陷。越来越多的证据表明，位于人类白细胞抗原（HLA）复合体中的免疫基因与自闭症病因之间存在关联。在本研究中，我们调查了非经典I类HLA - G、- E和 - F基因多态性是否与突尼斯儿童自闭症的遗传易感性相关。我们旨在寻找HLA - G基因型与可溶性HLA - G（sHLA - G）水平之间的相关性。我们分析了15名自闭症儿童及其父母的HLA - G、- E和 - F基因型。使用PCR - SSP和PCR - RFLP方法对HLA I类基因进行DNA分型。此外，我们通过经过验证的ELISA技术评估了自闭症先证者及其父母血清中HLA - G（1和5）的水平。在研究对象中，未发现任何多态性与自闭症之间存在关联。此外，我们未发现sHLA - G1和sHLA - G5与自闭症之间存在相关性。同时，在父母和后代的sHLA - G检测中也未发现显著差异。然而，携带[GG]基因型的父母的sHLA - G水平高于携带（[CC] + [GC]）基因型的父母（p = 0.037）。从这项初步研究中，我们得出结论，所研究的HLA - G、- E和 - F基因多态性不会导致突尼斯儿童患自闭症的易感性。然而，发现CGTIGA单倍型与该疾病有关。
