Table 2.

Disease functions as detected by IPA based on significant genetic variations in maternal and fetal candidate genes in Caucasians and its interpretation in spontaneous preterm birth.

Disease functions as detected by IPA	Genes involved in determining the disease functions		Potential pathophysiological role in preterm birth
	Mother	Fetus
Dermatologic disease and conditions	COL1A1, COL3A1, COL5A1, COL5A2, CTLA4, CYP19A1, IL5, IL10, IL18, MMP3, MMP1, NFKBIA, PLAT, PTGS1, TLR2, TLR7, TNFR1, TNFR2,	COL1A2, COL3A1, COL5A2, CYP19A1, IGF1, IL5, IL1A, IL1B, IL1RN, IL4R, MMP, NFKBIA, PGR, PTGS2, TLR7	Because dermatological disorders typically involve combined collagen remodeling aided by inflammation and, this function appears to reflect premature cervical ripening and membrane weakening related to preterm birth. Collagenolysis may involve an underlying inflammatory process as suggested by cytokines, cytokine receptors, cytokine signaling pathway genes that is likely a secondary event. Etiology → Collagenolysis → inflammation → Premature cervical ripening and membrane weakening → Preterm birth.
Inflammatory disease	CCL2, CTLA4, CYP19A1, F7, IL5, IL10, IL18, IL1R1, MMP3, MMP1, NFKBIA, PLA2G4A, PLAT, PTGER3, PTGS1, TIMP3, TLR2, TNFR1, TNFR2	CRHR2, CYP19A1, IGF1, IL5, IL10RA, IL1A, IL1B, IL1RN, IL2RB, IL4R, KL, MMP8, MMP1, NFKBIA, PGR, PTGS2, TIMP3, TREM1	Underlying inflammatory conditions associated with preterm birth (see above)
Hematological disease	CCL2, CTLA4, CYP19A1, F5, F7, HSD11B1, IL5, IL10, IL18, IL1RAP, NFKBIA, PLA2G4A, PLAT, PTGS1, TLR2, TNFR1, TNFR2	CBS, IGF1, IL5, IL1A, IL1B, IL1RAP, IL1RN, IL2RB, IL4R, MMP8, NFKBIA, NFKBIE, PGR, PTGS2	Involvement of genes in the hematological pathway indicates decidual hemorrhage and associated problems associated with Caucasian preterm birth.