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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]