Glutamatergic Copy Number Variants and Their Role in Attention-Deficit/Hyperactivity Disorder
Glutamatergic Copy Number Variants and Their Role in Attention-Deficit/Hyperactivity Disorder
复制标题
DOI：
10.1002/ajmg.b.32253
复制
发表时间：
2014-09-01
影响因子：
2.8
通讯作者：
Hutz, Mara H.
中科院分区：
文献类型：
--
作者：
Akutagava-Martins, Glaucia Chiyoko;Salatino-Oliveira, Angelica;Hutz, Mara H.
注意力缺陷多动障碍（ADHD）是一种常见的神经发育障碍，具有很强的遗传成分。谷氨酸代谢型受体基因（GRM）被认为是ADHD易感性的潜在候选基因。本研究的目的是调查GRM 1，GRM 5和GRM 8基因的拷贝数变异（CNVs）是否在ADHD受试者中过度表达。共调查了1038名ADHD患者和1057名非ADHD患者。ADHD组与非ADHD组相比，CNVs总数差异无统计学意义（P = 0.326，OR = 1.112，95% CI = 0.762-1.624）。在ADHD患者中，CNVs的存在与较低的智商（IQ）评分相关（P = 0.026，OR = 1.824，95%CI = 1.066-3.121），而在非ADHD患者中，CNVs的存在与较低的IQ评分无关。GRM 5中的CNVs与ADHD患者焦虑障碍的存在相关（P = 0.002，OR = 3.915，95%CI = 1.631-9.402），但与非ADHD患者无关。总之，我们的结果表明谷氨酸在ADHD中的作用，因为本文研究的谷氨酸能基因中的CNV与ADHD个体的认知和临床特征相关。(C)2014年威利期刊公司
Attention-Deficit/Hyperactivity Disorder (ADHD) is a common neurodevelopmental disorder with a strong genetic component. The glutamate metabotropic receptor genes (GRMs) have been considered potential candidates for ADHD susceptibility. The aim of the present study was to investigate if copy number variants (CNVs) in GRM1, GRM5, and GRM8 genes are over-represented in ADHD subjects. A total of 1038 individuals with ADHD and 1057 subjects without this disorder were investigated. No significant difference in the total number of CNVs was found comparing the entire ADHD sample and the population sample without ADHD (P = 0.326, OR = 1.112, 95% CI = 0.762-1.624). The presence of CNVs was associated with lower intelligence quotient (IQ) scores in ADHD samples (P = 0.026, OR = 1.824,95% CI = 1.066-3.121) but not in the sample of individuals without ADHD. CNVs in GRM5 were associated with presence of anxiety disorders in ADHD cases (P = 0.002, OR = 3.915, 95% CI = 1.631-9.402), but not in individuals without ADHD. Taken together, our results suggest a role for glutamate in ADHD as CNVs in the glutamatergic genes investigated herein were associated with cognitive and clinical characteristics of ADHD individuals. (C) 2014 Wiley Periodicals, Inc.