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. Author manuscript; available in PMC: 2024 May 7.
Published in final edited form as: JAMA Netw Open. 2020 Feb 5;3(2):e1921644. doi: 10.1001/jamanetworkopen.2019.21644

Table 5.

List of Gene Sets Commonly Enriched in Autism Spectrum Disorder Traits and MSEL Items

MSEL Item Gene Set P Value Threshold SNPs, No. R 2 β (SE) P Valuea
Gross motor skills Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway .04 38 0.064 −5.30 (1.30) <.001
Muscle cell development .008 44 0.052 3.91 (1.12) <.001
Chemokine motif ligand 2 production .14 17 0.051 −6.04 (1.75) .001
Regulation of monocyte differentiation .14 18 0.052 −6.63 (1.90) .001
B-cell differentiation .001 11 0.051 7.37 (2.15) .001
Monocyte activation .14 12 0.048 −6.61 (2.01) .001
Interleukin 12 secretion .14 13 0.047 −6.35 (1.96) .002
Receptive language skills Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway .04 38 0.064 −5.30 (1.30) <.001
Regulation of amino acid transport .04 27 0.052 −5.03 (1.44) .001
Regulation of glutamate secretion .03 14 0.052 −5.82 (1.68) .001
Neuron maturation .01 16 0.052 −6.52 (1.87) .001
lonotropic glutamate receptor signaling pathway .02 33 0.047 3.54 (1.09) .001
Negative regulation of glutamate secretion .04 12 0.045 −5.38 (1.74) .002

Abbreviations: MSEL, Mullen Scales of Early Learning; SNP, single-nucleotide polymorphism.

a

P values were corrected with 10 000 permutation tests.