Pathways systematically associated to Hirschsprung’s disease

Table 2 GO modules significantly associated to HSCR in the different populations analyzed with the Nsp and Sty chips, separately

	GO ID	Initial hypothesis	Italy		France		Netherlands		USA
			Nsp	Sty	Nsp	Sty	Nsp	Sty	Nsp	Sty
Signaling	GO:0051056	Regulation of small GTPase mediated signal transduction	Y		Y		Y		Y	Y
	GO:0046578	Regulation of Ras protein signal transduction	Y		Y*		Y		Y*	Y
	GO:0007265	Ras protein signal transduction	Y		Y		Y		Y	Y
	GO:0007264	Small GTPase mediated signal transduction	Y*		Y*		Y*		Y*
	GO:0035023	Regulation of Rho protein signal transduction	Y		Y		Y*
	GO:0009966	Regulation of signal transduction	Y*		Y*		Y*			Y
	GO:0007167	Enzyme linked receptor protein signaling pathway							Y
	GO:0007268	Synaptic transmission	Y		Y		Y		Y
ENS formation	GO:0006816	Calcium ion transport			Y	Y	Y*		Y*	Y*
	GO:0006812	Cation transport		Y*	Y	Y*	Y		Y*	Y*
	GO:0016337	Cell-cell adhesion	Y*	Y	Y		Y		Y
	GO:0016477	Cell migration	Y	Y			Y
	GO:0007399	Nervous system development	Y		Y		Y		Y
	GO:0048666	Neuron development	Y		Y		Y
	GO:0007409	Axonogenesis	Y		Y		Y

The first column specifies the general biological process represented by the GO terms (columns 2 and 3) which were found significant in the Spanish population and constitute the initial hypothesis for the functional basis of the disease. From fourth column ahead a Y means that the GO term was significant in the corresponding population and chip (FDR-adjusted p-values < 0.05) using the PBA approach described in Methods. Y* means that although this particular term was not significant, another direct descendant or ancestor GO term in the hierarchy was significant. The last four files are GO terms (in italics) that were not initially significant in the Spanish population but were consistently significant through the populations analyzed here.

ISSN: 1750-1172