巴西南部人群中自闭症谱系障碍的HLA - G * 14 bp插入/缺失变体
HLA-G*14 bp indel variant in autism spectrum disorder in a population from southern Brazil.
作者信息
Ziliotto Marina, Kulmann-Leal Bruna, Kaminski Valéria de Lima, Nunes Guilherme Tyska, Riesgo Rudimar Dos Santos, Roman Tatiana, Schuch Jaqueline Bohrer, Chies José Artur Bogo
机构信息
Laboratory of Immunobiology and Immunogenetics, Department of Genetics, Universidade Federal do Rio Grande do Sul - UFRGS, Porto Alegre, Brazil; Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul - UFRGS, Porto Alegre, Brazil.
Post Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul - UFRGS, Porto Alegre, Brazil; Universidade Anhembi Morumbi, São José dos Campos, São Paulo, Brazil.
出版信息
J Neuroimmunol. 2023 Oct 15;383:578194. doi: 10.1016/j.jneuroim.2023.578194. Epub 2023 Aug 30.
Altered immune response during pregnancy has been associated with ASD susceptibility. HLA-G is expressed by the trophoblast at the maternal/fetal interface and induces allogenic tolerance toward the fetus. A 14-bp insertion in the HLA-G 3'UTR (rs371194629) was associated with reduced levels of HLA-G. We aimed to assess the influence of the HLA-G*14 bp indel variant in ASD susceptibility and symptomatology in a Brazilian admixed sample. The insertion genotype (14 bp+/14 bp+) was firstly associated with hetero aggression, but statistical significance was lost after correction (p = 0.035, p = 0.35). No association between the HLA-G variant and susceptibility to ASD or differential clinical manifestations were observed.
孕期免疫反应改变与自闭症谱系障碍（ASD）易感性有关。HLA - G由母胎界面的滋养层细胞表达，并诱导对胎儿的同种异体耐受性。HLA - G 3'非翻译区（UTR）中的14bp插入（rs371194629）与HLA - G水平降低有关。我们旨在评估巴西混血样本中HLA - G *14bp插入缺失变异对ASD易感性和症状的影响。插入基因型（14bp +/14bp +）最初与异质性攻击有关，但校正后统计学意义消失（p = 0.035，p = 0.35）。未观察到HLA - G变异与ASD易感性或不同临床表现之间的关联。
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