谷氨酸转运体基因（SLC1A1）单核苷酸多态性（rs301430）与自闭症谱系障碍儿童的重复行为和焦虑。
Glutamate transporter gene (SLC1A1) single nucleotide polymorphism (rs301430) and repetitive behaviors and anxiety in children with autism spectrum disorder.
机构信息
Department of Psychiatry, Stony Brook University, New York, NY, USA.
出版信息
J Autism Dev Disord. 2010 Sep;40(9):1139-45. doi: 10.1007/s10803-010-0961-7.
Abstract
Investigated association of single nucleotide polymorphism (SNP) rs301430 in glutamate transporter gene (SLC1A1) with severity of repetitive behaviors (obsessive-compulsive behaviors, tics) and anxiety in children with autism spectrum disorder (ASD). Mothers and/or teachers completed a validated DSM-IV-referenced rating scale for 67 children with autism spectrum disorder. Although analyses were not significant for repetitive behaviors, youths homozygous for the high expressing C allele had more severe anxiety than carriers of the T allele. Allelic variation in SLC1A1 may be a biomarker for or modifier of anxiety symptom severity in children with ASD, but study findings are best conceptualized as tentative pending replication with larger independent samples.
摘要
研究谷氨酸转运体基因（SLC1A1）单核苷酸多态性（SNP）rs301430 与自闭症谱系障碍（ASD）儿童重复行为（强迫-冲动行为、抽动）严重程度和焦虑之间的关联。母亲和/或教师为 67 名自闭症谱系障碍儿童完成了经过验证的 DSM-IV 参考评定量表。尽管重复行为的分析不显著，但高表达 C 等位基因纯合的青少年比 T 等位基因携带者的焦虑更严重。SLC1A1 的等位基因变异可能是 ASD 儿童焦虑症状严重程度的生物标志物或修饰物，但研究结果最好被理解为在更大的独立样本中进行复制之前的暂定结果。
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