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. Author manuscript; available in PMC: 2021 May 1.
Published in final edited form as: J Autism Dev Disord. 2020 May;50(5):1834–1840. doi: 10.1007/s10803-019-03921-5

Table 2.

Enriched pathways for the 15-gene overlap set.

Pathway Name Set Size Candidates
Contained
p value Pathway Source Pathway Description
1) Dopaminergic Synapse 131 4 (3.1%)a
CACNA1C
MAOA
SCN1A
SLC6A3
9.14e-06 KEGG Dopamine is found in the brain and controls several functions such as locomotor activity, motivation and reward, learning and memory, and endocrine regulation.
2) Serotonergic Synapse 115 4 (3.5%)a
CACNA1C
HTR2A
MAOA
SLC6A4
5.08e-6 KEGG Serotonin is a neurotransmitter that has a key role in physiological functions including sleep, emotion, learning and memory, and pathology.
3) MECP2 and Associated Rett Syndrome 63 4 (6.3%)a
BDNF
MECP2
RBFOX1
UBE3A
4.84e-07 Wikipathways MECP2 regulates neuronal function and development. It effects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. MECP2 is also involved in neuronal differentiation, maturation, morphology and function, and influences synaptic plasticity. Mutations in MECP2 are associated with Rett Syndrome, schizophrenia, PPM-X-syndrome, FASD, and ASD.
4) Sudden Infant Death Syndrome
and (SIDS) Susceptibility Pathways
159 5 (3.1%)a
BDNF
HTR2A
MAOA
MECP2
SLC6A4
4.72e-07 Wikipathways SIDS is the sudden and unexpected death of an infant, almost always during sleep, where no cause of death can be found by autopsy. Factors that mediate SIDS are likely to be both biological and behavioral, such as sleeping position, environment and stress during a critical phase of infant development. This pathway describes candidate genes associated with neuronal signaling, cardiac contraction, and inflammatory response that are empirically related to SIDS.

Note. To be included in the manuscript, biological pathways had to contain at least 25% of the genes on the overlap list.

a

These numbers refer to the percentage of each total pathway (set size) represented in our overlap list.