Activating KIR-HLA-C ligand complexes and HLA-G∗14bp insertion/deletion (+/-) polymorphism were associated to Autism Spectrum Disorders (ASD) and were suggested to correlate with inflammation during fetal development. We evaluated whether HLA-G∗14bp(+/-) and KIR-HLA-C complexes are associated with cognitive and behavioral scores and EEG profile in 119 ASD children (58 from Sardinia, 61 from Peninsular Italy). KIR2DS1-C2; KIR2DS2-C1; KIR2DL1-C2; KIR2DL2-C1; KIR2DL3-C1 and HLA-G∗14bp(+/-) were molecularly genotyped by Single Specific Primer PCR and gel electrophoresis. Univariate linear model analysis adjusted for age, gender and provenience showed statistically higher scores of Childhood Autism Rating Scale (CARS) and Autistic Core Behavior in KIR2DS1-C2+/HLA-G∗14bp+ASD children (43.7±1.5, p=0.03; 3.3±0.1, p=0.03, respectively). These results suggested a synergistic polygenic association of KIR2DS1-HLAC2+/HLA-G∗14bp+ pattern with behavioral impairment in ASD children.
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【HLA-G∗14bp Insertion and the KIR2DS1-HLAC2 Complex Impact on Behavioral Impairment in Children with Autism Spectrum Disorders.].
【Hla-g * 14bp插入和自闭症谱系障碍儿童行为障碍的KIR2DS1-HLAC2复杂影响。】
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DOI：10.1016/j.neuroscience.2017.06.012文章类型：杂志文章
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激活KIR-hla-c配体复合物和hla-g ∗ 14bp插入/缺失 (+/-) 多态性与自闭症谱系障碍 (ASD) 相关，并被认为与胎儿发育过程中的炎症相关。我们评估了119名ASD儿童 (58名来自撒丁岛，61名来自意大利半岛) 的hla-g * 14bp(+/-) 和KIR-hla-c复合物是否与认知和行为评分以及脑电图谱相关。KIR2DS1-C2; KIR2DS2-C1; KIR2DL1-C2; KIR2DL2-C1; KIR2DL3-C1和hla-g * 14bp(+/-) 通过单特异性引物PCR和凝胶电泳进行分子分型。调整年龄，性别和出血率的单变量线性模型分析显示，KIR2DS1-C2/hla-g * 14bp ASD儿童的儿童自闭症评分量表 (CARS) 和自闭症核心行为得分在统计学上更高 (43.7 ± 1.5，p = 0.03; 3.3 ± 0.1，p = 0.03)。这些结果表明，ASD儿童的KIR2DS1-HLAC2/hla-g ∗ 14bp模式与行为障碍具有协同的多基因关联。
