Lung function discordance in monozygotic twins and associated differences in blood DNA methylation

Clinical Epigenetics

Table 5 Pathway enrichment analyses for Gene Ontology (GO), KEGG, and Pathway Commons (PC) (separate pathways with BH-corrected p value < 0.1) based on significant findings from EWAS for level of lung function

Lung function measure	Database	Pathway name	No. of genes	Genes	Statistics
Log-ΔzFEV1_IP	GO	Negative regulation of BMP signaling pathway	2	BMPER SKI	C = 32; O = 2; E = 0.01; R = 142.86; rawP = 7.87e-05; adjP = 0.0114
		Ubiquitin protein ligase binding	2	DAXX SKI	C = 147; O = 2; E = 0.05; R = 38.69; rawP = 0.0010; adjP = 0.0090
		PML body	2	DAXX SKI	C = 72; O = 2; E = 0.02; R = 87.37; rawP = 0.0002; adjP = 0.0052
	PC	TGFBR	2	DAXX SKI	C = 125; O = 2; E = 0.05; R = 43.92; rawP = 0.0009; adjP = 0.0450
Log-ΔzFVC_IP	No significant pathway enrichment results
ΔzFEV1/FVC_IP	GO	Protein homodimerization activity	3	MTHFD1L ANXA9 PRKRA	C = 554; O = 3; E = 0.27; R = 11.00; rawP = 0.0018; adjP = 0.0324
ΔzFEV1/FVC_IP	KEGG	Metabolic pathways	2	ADH6 MTHFD1L	C = 1093; O = 2; E = 0.46; R = 4.39; rawP = 0.0720; adjP = 0.0720

Bold indicates BH adjP < 0.05
C the number of reference genes in the category, O the number of genes in the gene set and also in the category, E the expected number in the category, R ratio of enrichment, rawP p value from hypergeometric test, adjP p value adjusted by the multiple test adjustment (BH)

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