当前位置: X-MOL 学术Cent. Eur. J. Immunol. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Non-classical human leukocyte antigen class I in Tunisian children with autism
Central European Journal of Immunology ( IF 1.3 ) Pub Date : 2020-07-27 , DOI: 10.5114/ceji.2020.97906
Najla Kharrat , Rania Abdelhedi , Imen Gtif , Imen Ayadi , Roberta Rizzo , Daria Bortolotti , Nouha Abdelmoula , Farhat Ghribi , Ahmed Rebai , Ines Zidi

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.


中文翻译:

突尼斯自闭症儿童的非经典人类白细胞抗原I类

自闭症谱系障碍(ASD)是儿童期最常见的疾病之一,其特征是沟通和社交能力不足。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的病因之间存在关联。

在这项研究中,我们调查了非经典的I类HLA-G,-E和-F多态性是否与突尼斯自闭症的遗传易感性相关。我们旨在寻找HLA-G基因型和可溶性HLA-G(sHLA-G)水平之间的相关性。我们分析了15个自闭症儿童及其父母的HLA-G,-E和-F基因型。HLA I类基因的DNA分型使用PCR-SSP和PCR-RFLP方法进行。此外,我们通过自闭症先证者及其父母的一种经过验证的ELISA技术评估了HLA-G(1和5)的血清水平。

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,我们发现sHLA-G1和sHLA-G5与自闭症之间没有相关性。同样,在父母和后代的sHLA-G检测中也没有发现显着差异。但是,携带[GG]基因型的父母比携带([CC] + [GC])基因型的父母表现出更高的sHLA-G水平(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基因多态性并未导致突尼斯儿童自闭症易感性。然而,发现CGTIGA单倍型与该疾病有关。
更新日期:2020-08-20
down
wechat
bug