Glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) gene as a positional candidate for attention-deficit/hyperactivity disorder in the 16p13 region
Glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) gene as a positional candidate for attention-deficit/hyperactivity disorder in the 16p13 region
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DOI：
10.1038/sj.mp.4001455
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发表时间：
2004-05-01
影响因子：
11
通讯作者：
Barr, CL
中科院分区：
文献类型：
--
作者：
Adams, J;Crosbie, J;Barr, CL
基于动物模型以及N -甲基- D -天冬氨酸受体（NMDAR）在认知和运动过程中的作用，谷氨酸系统可能参与了注意缺陷/多动障碍（ADHD）的发生发展。对ADHD首次基因组扫描的一项后续研究发现了与16p13区域存在连锁的显著证据。（1）编码NMDA受体2A亚基的离子型谷氨酸受体N -甲基- D -天冬氨酸2A（GRIN2A）基因位于该区域，并且最近的一项研究报道了该基因与ADHD之间存在关联。2我们在183个核心家庭（其中有229名患病儿童）的样本中，检测了GRIN2A基因座上的四个多态性的等位基因和单倍型与ADHD之间的连锁关系。与先前的研究结果相反，我们没有发现这些标记与ADHD存在关系的任何证据。由于GRIN2A在认知方面的作用，我们研究了该基因与抑制控制、言语短期记忆和言语工作记忆等认知表型的关系。没有发现GRIN2A与这些表型之间存在连锁的显著证据。虽然在我们的样本中结果不显著，但先前的关联发现表明对该基因进行进一步研究是有必要的。
The glutamate system may be involved in the development of attention-deficit/hyperactivity disorder (ADHD) based on animal models and the role of N-methyl-D-aspartate receptors (NMDAR) in cognition and motor processes. A follow-up study of the first genome scan for ADHD identified significant evidence for linkage to the 16p13 region.(1) The glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A) gene that encodes the 2A subunit of the NMDA receptor, resides in this region and a recent study has reported an association between this gene and ADHD. 2 We tested for linkage between the alleles and haplotypes of four polymorphisms at the GRIN2A locus and ADHD in our sample of 183 nuclear families with 229 affected children. In contrast to previous findings, we did not identify any evidence for a relationship of these markers and ADHD. Owing to the role of GRIN2A in aspects of cognition, we investigated the relationship of this gene to the cognitive phenotypes of inhibitory control, verbal short-term memory and verbal working memory. There was no significant evidence of linkage between GRIN2A and these phenotypes. While the results were not significant in our sample, the previous association finding suggests that further study of this gene is warranted.