SNPs and interaction analyses of IRF6
, MSX1 and PAX9 genes in patients with non-syndromic cleft lip with or without palate.
The results of this study suggest that IRF6
is the main factor expressed in connective tissues of the oral mucosa, and the downregulation of IRF6
in the oral epithelium of CBCLP cases indicates that it may be responsible for a decrease in the differentiation potential of epitheliocytes in CLP.
Integration of IRF6
and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.
"As it has been shown for IRF6
, one or several polymorphisms in GRHL3 might be found to be associated with increased risk of clefts in non-syndromic cases," Peyrard-Janvid added.
is a major modifier for nonsyndromic cleft with or without cleft palate.
Malhotra et al., "Irf6
is a key determinant of the keratinocyte proliferation-differentiation switch," Nature Genetics, vol.
Kondo et al., "Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6
)," Nature Genetics, vol.
Viseletal., "Disruptionofan AP-2[alpha] binding site in an IRF6
enhancer is associated with cleft lip," Nature Genetics, vol.