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. 2017 Feb 7;43(4):801–813. doi: 10.1093/schbul/sbw174

Table 2.

Characteristics of the SNPs and Distribution of the Genetic Profile Score

Molecular Characteristics Phenotype Association Studies Genotype Distribution
Gene Protein/Function SNP SNP Location Effect on Expression Hypothesized Mechanism Disorders Endophenotype Genotypes N E/I Profile
GRIN1 Excitatory NMDA receptor (subunit NR1) rs11146020 5′UTR N/A C allele may alter consensus binding sequence of p50 subunit of NF-kB transcription factor44 Schizophrenia44,58 Depressive symptoms60 G/C 8 Intermediate
Bipolar disorder59 G/G 29 High
GRIK3 Excitatory glutamate kainate receptor (subunit 3) rs6691840 Coding T allele associated with lower expression in brain tissue61 T allele may decrease expression by facilitating allele- specific imprinting61 Schizophrenia45,62,63 Depressive symptoms65 T/T 19 Low
Recurrent depression64 T/G 16 Intermediate
G/G 2 High
GAD1 Glutamate decaroboxylase 1 enzyme— converts Glu to GABA rs3749034 5′UTR G allele associated with lower expression in brain tissue of schizophrenic patients46 G allele may alter binding sites of transcription factors AREB6 and MYOD146; may further modulate E/I balance by altering expression of nearby potassium- chloride transporter gene SLC12A5 (KCCN2)66,67 Schizophrenia,46,68,69 panic disorder (females only)70 Working memory and PFC function46,69; cortical thickness in parahippocampal gyrus71 A/A 2 Low
G/A 11 Intermediate
G/G 24 High
GABRB2 Inhibitory GABA A receptor (beta 2 subunit) rs187269 Intronic C allele associated with lower expression in brain tissue of sz patients67,72 C allele may alter an intronic splice site and reduce expression of select splice variants72 Schizophrenia47,73 Psychotic symptom severity; altruism/social cognition75 T/T 12 Low
Bipolar disorder74 C/T 21 Intermediate
C/C 4 High

Note: MPFC, medial prefrontal cortex; CSF, cerebral spinal fluid; GM/WM, grey matter to white matter; PLE, power law exponent; GABA, Gamma-AminoButyric Acid; E/I = excitation/inhibition.