Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population

作者：Takasaki Yuto; Koide Takayoshi; Wang Chenyao; Kimura Hiroki; Xing Jingrui; Kushima Itaru; Ishizuka Kanako; Mori Daisuke; Sekiguchi Mariko; Ikeda Masashi; Aizawa Miki; Tsurumaru Naoko; Iwayama Yoshimi; Yoshimi Akira; Arioka Yuko; Yoshida Mami; Noma Hiromi; Oya Ito Tomoko; Nakamura Yukako; Kunimoto Shohko; Aleksic Branko^*; Uno Yota; Okada Takashi; Ujike Hiroshi; Egawa Jun; Kuwabara Hitoshi; Someya Toshiyuki; Yoshikawa Takeo; Iwata Nakao; Ozaki Norio

来源：Scientific Reports, 2016, 6(1): 33311.

DOI：10.1038/srep33311

N-methyl-d-aspartate receptors (NMDARs) play a critical role in excitatory synaptic transmission and plasticity in the central nervous systems. Recent genetics studies in schizophrenia (SCZ) show that SCZ is susceptible to NMDARs and the NMDAR signaling complex. In autism spectrum disorder (ASD), several studies report dysregulation of NMDARs as a risk factor for ASD. To further examine the association between NMDARs and SCZ/ASD development, we conducted a mutation screening study of GRIN2B which encodes NR2B subunit of NMDARs, to identify rare mutations that potentially cause diseases, in SCZ and ASD patients (n = 574 and 152, respectively). This was followed by an association study in a large sample set of SCZ, ASD, and normal healthy controls (n = 4145, 381, and 4432, respectively). We identified five rare missense mutations through the mutation screening of GRIN2B. Although no statistically significant association between any single mutation and SCZ or ASD was found, one of its variant, K1292R, is found only in the patient group. To further examine the association between mutations in GRIN2B and SCZ/ASD development, a larger sample size and functional experiments are needed.

• 出版日期2016-9-12