Objective: Orofacial development is a complex process subjected to failure impairing. Indeed, the cleft of the lip and/or of the palate is among the most frequent inborn malformations. The JARID2 gene has been suggested to be involved in non-syndromic cleft lip with or without cleft palate (nsCL/P) etiology. JARID2 interacts with the polycomb repressive complex 2 (PRC2) in regulating the expression patterns of developmental genes by modifying the chromatin state. Materials and methods: Genes coding for the PRC2 components, as well as other genes active in cell differentiation and embryonic development, were selected for a family-based association study to verify their involvement in nsCL/P. A total of 632 families from Italy and Asia participated to the study. Results: Evidence of allelic association was found with polymorphisms of SNAI1; in particular, the rs16995010-G allele was undertransmitted to the nsCL/P cases [P = 0.004, odds ratio = 0.69 (95% C.I. 0.54–0.89)]. However, the adjusted significance value corrected for all the performed tests was P = 0.051. Conclusions: The findings emerging by the present study suggest for the first time an involvement of SNAI1 in the nsCL/P onset. Clinical relevance: Interestingly, SNAI1 is known to promote epithelial to mesenchymal transition by repressing E-cadherin expression, but it needs an intact PRC2 to act this function. Alterations of this process could contribute to the complex etiology of nsCL/P.

Cura, F., Palmieri, A., Girardi, A., Carinci, F., Morselli, P.G., Nouri, N., et al. (2018). Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate. CLINICAL ORAL INVESTIGATIONS, --, 1-7 [10.1007/s00784-018-2350-0].

Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate

Cura, Francesca;Palmieri, Annalisa;Girardi, Ambra;Morselli, Paolo Giovanni;Pezzetti, Furio;Scapoli, Luca;Martinelli, Marcella
2018

Abstract

Objective: Orofacial development is a complex process subjected to failure impairing. Indeed, the cleft of the lip and/or of the palate is among the most frequent inborn malformations. The JARID2 gene has been suggested to be involved in non-syndromic cleft lip with or without cleft palate (nsCL/P) etiology. JARID2 interacts with the polycomb repressive complex 2 (PRC2) in regulating the expression patterns of developmental genes by modifying the chromatin state. Materials and methods: Genes coding for the PRC2 components, as well as other genes active in cell differentiation and embryonic development, were selected for a family-based association study to verify their involvement in nsCL/P. A total of 632 families from Italy and Asia participated to the study. Results: Evidence of allelic association was found with polymorphisms of SNAI1; in particular, the rs16995010-G allele was undertransmitted to the nsCL/P cases [P = 0.004, odds ratio = 0.69 (95% C.I. 0.54–0.89)]. However, the adjusted significance value corrected for all the performed tests was P = 0.051. Conclusions: The findings emerging by the present study suggest for the first time an involvement of SNAI1 in the nsCL/P onset. Clinical relevance: Interestingly, SNAI1 is known to promote epithelial to mesenchymal transition by repressing E-cadherin expression, but it needs an intact PRC2 to act this function. Alterations of this process could contribute to the complex etiology of nsCL/P.
2018
Cura, F., Palmieri, A., Girardi, A., Carinci, F., Morselli, P.G., Nouri, N., et al. (2018). Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate. CLINICAL ORAL INVESTIGATIONS, --, 1-7 [10.1007/s00784-018-2350-0].
Cura, Francesca; Palmieri, Annalisa; Girardi, Ambra; Carinci, Francesco; Morselli, Paolo Giovanni; Nouri, Nayereh; Pezzetti, Furio; Scapoli, Luca; Mar...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/628996
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