Possible effect of SNAIL family transcriptional repressor 1 polymorphisms in non-syndromic cleft lip with or without cleft palate.
Clin Oral Investig
; 22(7): 2535-2541, 2018 Sep.
Article
em En
| MEDLINE
| ID: mdl-29374328
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 ANDMETHODS:
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.Palavras-chave
Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Fenda Labial
/
Fissura Palatina
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Polimorfismo de Nucleotídeo Único
/
Fatores de Transcrição da Família Snail
País/Região como assunto:
Asia
/
Europa
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Itália