The Contribution of the Airway Epithelial Cell to Host Defense

Table 2

Immunologically relevant genes and transcription factors that were identified as modifiers of the CFTR-mediated basic defect among F508del-CFTR homozygous CF patients.

Functional category	Gene	Association observed with	Reference
Ligands	CD14	CFTR activity/intestinal tissue [C]; Non-CFTR mediated residual chloride secretion/intestinal tissue [D]	[13]
	TNFA	CFTR activity/nasal epithelium [B]	[13]
	IL1B	CFTR activity/intestinal tissue [C]	[13, 39]
	TGFB1	Non-CFTR mediated residual chloride secretion/intestinal tissue [D]	[13]
	IL8	CFTR activity/nasal epithelium [B]	[13]
Membrane-bound receptors	TLR4	ENaC activity/nasal epithelium [A]; CFTR activity/nasal epithelium [B]; CFTR activity/intestinal tissue [C]	[13]
	TNFR1	ENaC activity/nasal epithelium [A]; CFTR activity/nasal epithelium [B]; CFTR activity/intestinal tissue [C]; Non-CFTR mediated residual chloride secretion/intestinal tissue [D]	[13]
	CD95	ENaC activity/nasal epithelium [A]; CFTR activity/nasal epithelium [B]; CFTR activity/intestinal tissue [C]; Non-CFTR mediated residual chloride secretion/intestinal tissue [D]	[13]
	IFNGR1	CFTR activity/nasal epithelium [B]; CFTR activity/intestinal tissue [C]	[13, 39]
	TLR5	CFTR activity/nasal epithelium [B]; Non-CFTR mediated residual chloride secretion/intestinal tissue [D]	[13]
	TLR9	CFTR activity/intestinal tissue [C]; Non-CFTR mediated residual chloride secretion/intestinal tissue [D]	[13]
Transcription factors	STAT3	CFTR activity/intestinal tissue [C]	[13, 39]
	EHF	ENaC activity/nasal epithelium [A]; CFTR activity/intestinal tissue [C]	[45]

[A]: the association was observed in a case-reference study comparing F508del-CFTR homozygotes with high versus low change of the potential upon superfusion of the nasal epithelium with amiloride as assessed by nasal potential difference measurement. Please see [13] for details.
[B]: the association was observed in a case-reference study comparing F508del-CFTR homozygotes with presence versus absence of a change of the potential upon superfusion of the nasal epithelium with chloride-free solution and isoproterenol as assessed by nasal potential difference measurement. Please see [13] for details.
[C]: the association was observed in a case-reference study comparing F508del-CFTR homozygotes with presence versus absence of DIDS-insensitive residual chloride secretion as assessed by intestinal current measurement of rectal suction biopsies. Please see [13] for details.
[D]: the association was observed in a case-reference study comparing F508del-CFTR homozygotes with presence versus absence of DIDS-sensitive residual chloride secretion of the intestinal tissue as assessed by intestinal current measurement of rectal suction biopsies. Please see [13] for details.