TY - JOUR
T1 - Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population
AU - Takasaki, Yuto
AU - Koide, Takayoshi
AU - Wang, Chenyao
AU - Kimura, Hiroki
AU - Xing, Jingrui
AU - Kushima, Itaru
AU - Ishizuka, Kanako
AU - Mori, Daisuke
AU - Sekiguchi, Mariko
AU - Ikeda, Masashi
AU - Aizawa, Miki
AU - Tsurumaru, Naoko
AU - Iwayama, Yoshimi
AU - Yoshimi, Akira
AU - Arioka, Yuko
AU - Yoshida, Mami
AU - Noma, Hiromi
AU - Oya-Ito, Tomoko
AU - Nakamura, Yukako
AU - Kunimoto, Shohko
AU - Aleksic, Branko
AU - Uno, Yota
AU - Okada, Takashi
AU - Ujike, Hiroshi
AU - Egawa, Jun
AU - Kuwabara, Hitoshi
AU - Someya, Toshiyuki
AU - Yoshikawa, Takeo
AU - Iwata, Nakao
AU - Ozaki, Norio
N1 - Publisher Copyright:
© The Author(s) 2016.
PY - 2016/9/12
Y1 - 2016/9/12
N2 - 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.
AB - 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.
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U2 - 10.1038/srep33311
DO - 10.1038/srep33311
M3 - Article
C2 - 27616045
AN - SCOPUS:84987677816
SN - 2045-2322
VL - 6
JO - Scientific reports
JF - Scientific reports
M1 - 33311
ER -