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. 2023 Jan 21;13:18. doi: 10.1038/s41398-023-02317-5

Table 2.

Glutamate and GABA and phenotypes competitive gene-set analysis results.

Glutamate: Pathway gene-set (N = 72) BETA P PFDR SE
SRS 0.075 0.247 0.247 0.109
RBS-R 0.111 0.144 0.162 0.104
SSP 0.108 0.143 0.162 0.101
Diagnosis 0.171 0.048 0.103
ADI communication domain 0.197 0.028 0.042 0.103
ADI restricted and repetitive behaviors domain 0.197 0.028 0.042 0.103
ADI social domain 0.197 0.028 0.042 0.103
ADOS restricted and repetitive behaviors 0.225 0.014 0.042 0.103
ADOS social affect 0.225 0.014 0.042 0.103
ADOS total score 0.225 0.015 0.042 0.103
Glutamate: Receptors/transporters gene-set (N = 31)
SRS −0.016 0.538 0.559 0.170
RBS-R −0.024 0.559 0.559 0.163
SSP 0.188 0.116 0.278 0.157
Diagnosis 0.075 0.319 0.161
ADI communication domain 0.077 0.315 0.406 0.160
ADI restricted and repetitive behaviors domain 0.077 0.315 0.406 0.160
ADI social domain 0.077 0.315 0.406 0.160
ADOS restricted and repetitive behaviors 0.186 0.124 0.278 0.160
ADOS social affect 0.186 0.123 0.278 0.160
ADOS total score 0.186 0.124 0.278 0.160
GABA: Pathway gene-set (N = 124) BETA P PFDR SE
SRS −0.050 0.721 0.728 0.085
RBS-R −0.013 0.562 0.632 0.081
SSP 0.151 0.028 0.248 0.079
Diagnosis 0.040 0.311 0.081
ADI communication domain 0.048 0.274 0.413 0.080
ADI restricted and repetitive behaviors domain 0.048 0.275 0.413 0.080
ADI social domain 0.048 0.274 0.413 0.080
ADOS restricted and repetitive behaviors 0.037 0.321 0.413 0.080
ADOS social affect 0.037 0.321 0.413 0.080
ADOS total score 0.037 0.321 0.413 0.080
GABA: Receptors/transporters gene-set (N = 23)
SRS 0.102 0.318 0.358 0.215
RBS-R −0.329 0.946 0.946 0.205
SSP 0.340 0.022 0.198 0.198
Diagnosis 0.133 0.256 0.202
ADI communication domain 0.117 0.281 0.358 0.202
ADI restricted and repetitive behaviors domain 0.117 0.281 0.358 0.202
ADI social domain 0.117 0.281 0.358 0.202
ADOS restricted and repetitive behaviors 0.105 0.302 0.358 0.202
ADOS social affect 0.105 0.301 0.358 0.202
ADOS total score 0.105 0.301 0.358 0.202

N number of genes in analysis. Diagnosis was indicated as a binary variable. SRS-2 Social Responsiveness Scale, Second Edition, RBS-R Repetitive Behavior Scale-Revised, SSP Short Sensory Profile, ADI Autism Diagnostic Interview-Revised, ADOS Autism Diagnostic Observation Schedule, PFDR p-value corrected using False discovery rate (FDR), SE standard error of the regression coefficient. Significant results (pFDR < 0.05) marked in bold.