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Clinical Oral Investigations

, Volume 22, Issue 7, pp 2535–2541 | Cite as

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

  • Francesca Cura
  • Annalisa Palmieri
  • Ambra Girardi
  • Francesco Carinci
  • Paolo Giovanni Morselli
  • Nayereh Nouri
  • Furio Pezzetti
  • Luca Scapoli
  • Marcella Martinelli
Original Article

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.

Keywords

Association study Epithelial to mesenchymal transition Non-syndromic cleft lip with or without cleft palate Polycomb repressive complex 2 Polymorphism SNAI1 

Notes

Acknowledgements

We are indebted to the families participating in the study for their invaluable contribution, as well as to all the personnel involved in clinical data and specimen collection.

Funding information

This work was supported in part by a grant from the Association Interethnos Interplast Italy and by Fondazione Del Monte di Bologna e Ravenna (for the salary of Dr. Ambra Girardi).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Francesca Cura
    • 1
  • Annalisa Palmieri
    • 1
  • Ambra Girardi
    • 1
  • Francesco Carinci
    • 2
  • Paolo Giovanni Morselli
    • 1
    • 3
  • Nayereh Nouri
    • 4
  • Furio Pezzetti
    • 1
  • Luca Scapoli
    • 1
  • Marcella Martinelli
    • 1
  1. 1.Department of Experimental, Diagnostic and Specialty MedicineUniversity of BolognaBolognaItaly
  2. 2.Department of Morphology, Surgery and Experimental MedicineUniversity of FerraraFerraraItaly
  3. 3.Plastic Surgery UnitSant’Orsola Malpighi University HospitalBolognaItaly
  4. 4.Department of Genetics and Molecular Biology, Medical SchoolIsfahan University of Medical SciencesIsfahanIran

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