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Table 4 Top 10 most significant GO Biological processes enriched with sex-specific DNA methylation differences associated with AD Braak stage in females and males. Shown are GSEA results including the number of genes in the gene set (SIZE), normalized enrichment score (NES), P-value, FDR, and relevant AD literature for the gene set

From: Sex-specific DNA methylation differences in Alzheimer’s disease pathology

Gene Set SIZE NES P-value FDR Relevance to AD
Top 10 GO Biological Process terms in females      
INTEGRIN_ACTIVATION 24 2.105 0 9.53E−02 Wennstrome et al. [98]
RESPONSE_TO_PLATELET_DERIVED_GROWTH_FACTOR 19 2.116 0 1.07E−01 Sil et al. [99]
I_KAPPAB_PHOSPHORYLATION 19 2.081 0 1.13E−01 Jha et al. [100]
NEGATIVE_REGULATION_OF_INTERLEUKIN_8_PRODUCTION 18 2.133 0 1.21E−01 Qin et al. [101]
POSITIVE_REGULATION_OF_MACROPHAGE_MIGRATION 25 2.048 0 1.46E−01 Bacher et al. [102]
TOLL_LIKE_RECEPTOR_SIGNALING_PATHWAY 142 2.031 0 1.61E−01 Fiebich et al. [103]
NEGATIVE_REGULATION_OF_TUMOR_NECROSIS_FACTOR_SUPERFAMILY_CYTOKINE_PRODUCTION 57 2.007 0 1.90E−01 Chang et al. [104]
REGULATION_OF_SYNCYTIUM_FORMATION_BY_PLASMA_MEMBRANE_FUSION 28 1.944 0 1.98E−01 Armoto et al. [105]
RESPONSE_TO_VITAMIN_A 19 1.945 0 2.08E−01 Ono et al. [106]
POSITIVE_REGULATION_OF_AXON_EXTENSION 42 1.931 0 2.08E−01 Kanaan et al. [107]
Top 10 Biological Process terms in males      
REGULATION_OF_T_CELL_ACTIVATION_VIA_T_CELL_RECEPTOR_CONTACT_WITH_ANTIGEN_BOUND_TO_MHC_MOLECULE_ON_ANTIGEN_PRESENTING_CELL 6 1.869 0 5.98E−01 Schetters et al. [108]
REGULATION_OF_SYSTEMIC_ARTERIAL_BLOOD_PRESSURE_BY_CIRCULATORY_RENIN_ANGIOTENSIN 18 1.964 0 6.11E−01 Cosarderelioglu et al. [57]
NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_BIOSYNTHETIC_PROCESS 29 1.745 0 6.12E−01 Manoharan et al. [59]
COMPLEMENT_ACTIVATION 68 1.741 0 6.26E−01 Morgan [97]
RESPONSE_TO_ANGIOTENSIN 26 1.746 0 6.36E−01 Benigni et al. [58]
CELL_REDOX_HOMEOSTASIS 55 1.721 0 6.49E−01 Chen et al. [60]
PROTEIN_DEMETHYLATION 28 1.832 0 6.77E−01 Esposito et al. [109]
IMMUNE_RESPONSE_INHIBITING_CELL_SURFACE_RECEPTOR_SIGNALING_PATHWAY 6 1.781 0 7.02E−01 Schetters et al. [108]
DICARBOXYLIC_ACID_CATABOLIC_PROCESS 17 2.052 0 7.57E−01 Griffin et al. [110]
GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS 70 1.657 0 7.75E−01 Conway et al. [111]