PMID- 25406999
OWN - NLM
STAT- MEDLINE
DCOM- 20160524
LR  - 20220129
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 23
IP  - 9
DP  - 2015 Sep
TI  - Association of rare variation in the glutamate receptor gene SLC1A2 with 
      susceptibility to bipolar disorder and schizophrenia.
PG  - 1200-6
LID - 10.1038/ejhg.2014.261 [doi]
AB  - The SLC1A2 gene encodes the excitatory amino acid transporter 2 (EAAT2). 
      Glutamate is the major mediator of excitatory neurotransmission and EAAT2 is 
      responsible for clearing the neurotransmitter from the synaptic cleft. Genetic 
      variation in SLC1A2 has been implicated in a range of neurological and 
      neuropsychiatric conditions including schizophrenia (SZ), autism and in core 
      phenotypes of bipolar disorder (BD). The coding and putative regulatory regions 
      of SLC1A2 gene were screened for variants using high resolution melting or 
      sequenced in 1099 or in 32 BD subjects. Thirty-two variants were detected in the 
      SLC1A2 gene. Fifteen potentially etiological variants were selected for 
      genotyping in 1099 BD and 1095 control samples. Five amino acid changing variants 
      were also genotyped in 630 participants suffering from SZ. None of the variants 
      were found to be associated with BD or SZ or with the two diseases combined. 
      However, two recurrent missense variants (rs145827578:G>A, p.(G6S); 
      rs199599866:G>A, p.(R31Q)) and one recurrent 5'-untranslated region (UTR) variant 
      (ss825678885:G>T) were detected in cases only. Combined analysis of the 
      recurrent-case-only missense variants and of the case-only missense and 5'-UTR 
      variants showed nominal evidence for association with the combined diseases 
      (Fisher's P=0.019 and 0.0076). These findings are exploratory in nature and await 
      replication in larger cohorts, however, they provide intriguing evidence that 
      potentially functional rare variants in the SLC1A2 gene may confer susceptibility 
      to psychotic disorders.
FAU - Fiorentino, Alessia
AU  - Fiorentino A
AD  - Molecular Psychiatry Laboratory, Division of Psychiatry, Rockefeller Building, 
      University College London, London, UK.
FAU - Sharp, Sally I
AU  - Sharp SI
AD  - Molecular Psychiatry Laboratory, Division of Psychiatry, Rockefeller Building, 
      University College London, London, UK.
FAU - McQuillin, Andrew
AU  - McQuillin A
AD  - Molecular Psychiatry Laboratory, Division of Psychiatry, Rockefeller Building, 
      University College London, London, UK.
LA  - eng
GR  - G0500791/MRC_/Medical Research Council/United Kingdom
GR  - G0701007/MRC_/Medical Research Council/United Kingdom
GR  - G1000708/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20141119
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
RN  - 0 (5' Untranslated Regions)
RN  - 0 (Excitatory Amino Acid Transporter 2)
RN  - 0 (Glutamate Plasma Membrane Transport Proteins)
RN  - 0 (SLC1A2 protein, human)
SB  - IM
MH  - 5' Untranslated Regions
MH  - Bipolar Disorder/diagnosis/*genetics/pathology
MH  - Case-Control Studies
MH  - DNA Mutational Analysis
MH  - Excitatory Amino Acid Transporter 2
MH  - Gene Expression
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Glutamate Plasma Membrane Transport Proteins/*genetics
MH  - Humans
MH  - *Mutation
MH  - Nucleic Acid Denaturation
MH  - Open Reading Frames
MH  - Phenotype
MH  - *Polymorphism, Single Nucleotide
MH  - Schizophrenia/diagnosis/*genetics/pathology
PMC - PMC4351899
MID - EMS60577
OID - NLM: EMS60577
EDAT- 2014/11/20 06:00
MHDA- 2016/05/25 06:00
PMCR- 2015/09/01
CRDT- 2014/11/20 06:00
PHST- 2014/06/23 00:00 [received]
PHST- 2014/09/30 00:00 [revised]
PHST- 2014/10/04 00:00 [accepted]
PHST- 2014/11/20 06:00 [entrez]
PHST- 2014/11/20 06:00 [pubmed]
PHST- 2016/05/25 06:00 [medline]
PHST- 2015/09/01 00:00 [pmc-release]
AID - ejhg2014261 [pii]
AID - 10.1038/ejhg.2014.261 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2015 Sep;23(9):1200-6. doi: 10.1038/ejhg.2014.261. Epub 2014 Nov 
      19.