Table 2.

Enrichment analyses of gene ontology (GO) terms based on the top 500 replicated differentially methylated CpG sites (according to association P value in the discovery cohort) with gene name annotation and the most significant GO terms are shown*

	Molecules	P value
Molecular function
Enzyme binding  GO:0019899	PDE4D;ACACA;TBC1D2;MCM2;RXRA;TBC1D16;ADORA2A;CLU;MAP3K11;FXYD1;PLSCR1;CUL1;STX8;VRK2;ANKFY1; POR;AMBRA1;CBX4;APP;YWHAG;PRDX6;ERLIN1;CRY2;NCOR2;STC2;PRKAA1;PDE4DIP;PRKAG1;CSTA;EIF3A;PRKCZ; SLC12A7;MAP2K6;ATP2A2;RAB11FIP3;SP1;HDAC4;SPTBN1;MAML1;NCK1;NDUFS2;LAX1;KSR1;RCOR1;TBC1D1; RALBP1;KCNQ1;MMS19;RAB13;SMG6;DNMT3B;CACNA1C;ATF7;CALR;GRK5;CAST;RDX;HNRNPUL1;LCK;RUNX2; RUNX3;CCND2;SCARB2;CD44;LRP4;ELANE;PPP1R18;LRPAP1;TNFRSF1B;CDH1;ENO1;SMAD3;EXOC4	4.6E−06
Regulatory region DNA binding  GO:0000975	BACH2;ZMYND8;ETS2;ACTN4;BCL11A;RREB1;RFX8;RXRA;GATAD2B;PRDX5;MNT;CBX4;CRY2;NCOR2;ZNF335;ZNF516; CUX1;GABPB1;SP1;ZBTB16;ZNF148;HDAC4;IRF5;RCOR1;NR1I2;NFE2;NFIL3;EHF;ATF7;TCF12;ARID3A;NRF1;AKNA; NR1H3;E2F3;RUNX2;RUNX1;RUNX3;IKZF4;LMO2;SMAD3	4.7E−06
Biological process
Leucocyte activation  GO:0045321	PDCD1;HLA DMB;TUSC2;HLX;BCL11A;CD83;ADORA2A;PRAM1;FCER1G;CLU;FCGR3B;MAD1L1;FES;AIF1;PLSCR1; PILRB;SFTPD;ZBTB32;PIK3R6;PRF1;ZNF335;PRKCZ;ZBTB16;IMPDH1;HDAC4;TNFSF13;AZU1;NCK1;LAX1;PTPRE; ZFP36L1;DOCK2;LST1;RIPK3;NR1H3;LCK;RUNX2;LFNG;NLRP3;CORO1A;CD247;CD44;LY9;SMAD3;CDK6	3.8E−08

*Functional gene-set enrichment analysis was performed using the ToppGene Suite database https://toppgene.cchmc.org.