Open AccessMutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population
Author(s) -
Yuto Takasaki,
Taro Koide,
Chenyao Wang,
Hiroki Kimura,
Jing Xing,
Itaru Kushima,
Kanako Ishizuka,
Daisuke Mori,
Mariko Sekiguchi,
Masashi Ikeda,
Mamoru Aizawa,
Naoko Tsurumaru,
Yoshimi Iwayama,
Akira Yoshimi,
Yuko Arioka,
Masaaki Yoshida,
Hiromi Noma,
Tomoko OyaIto,
Yukako Nakamura,
Shohko Kunimoto,
Branko Aleksić,
Yuichi Uno,
Takashi Okada,
Hiroshi Ujike,
Jun Egawa,
Hitoshi Kuwabara,
Toshiyuki Someya,
Takeo Yoshikawa,
Nakao Iwata,
Norio Ozaki
Publication year - 2016
Publication title -
scientific reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.24
H-Index - 213
ISSN - 2045-2322
DOI - 10.1038/srep33311
Subject(s) - autism spectrum disorder , schizophrenia (object oriented programming) , autism , missense mutation , genetics , mutation , neuroscience , biology , medicine , psychiatry , gene
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.