Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants-Reference-Cited by-同舟云学术

Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants

Published:2020-10 Issue:20 Volume:12 Page:1783-1791
ISSN:1750-1911
Container-title:Epigenomics
language:en
Short-container-title:Epigenomics

Author:

Cáceres-Rojas Gabriela¹,Salamanca Carlos¹²³,Krause Bernardo J⁴^ORCID,Recabarren Andrea S¹,Recabarren Pamela A¹,Pantoja Roberto⁵⁶,Leiva Noemi⁷,Pardo Rosa⁸⁹¹⁰,Santos José Luis¹¹,Suazo José¹^ORCID

Affiliation:

1. Institute for Research in Dental Sciences, School of Dentistry, Universidad de Chile, Santiago, Chile

2. Research Centre in Dental Sciences (CICO), Dental School, Universidad de La Frontera, Chile

3. Universidad Adventista de Chile, Chillán, Chile

4. Instituto de Ciencias de la Salud, Universidad de O’Higgins, Rancagua, Chile

5. Maxillofacial Surgery Service, Cleft Lip & Palate Unit, Hospital Clínico San Borja-Arriaran. Santiago de Chile, Chile

6. Department of Oral & Maxillofacial Surgery, School of Dentistry, Universidad de Chile, Santiago, Chile

7. Unit of Maxillofacial Malformations, School of Dentistry, Universidad de Chile, Santiago, Chile

8. Section of Genetics, Hospital Clínico Universidad de Chile, Santiago, Chile

9. Unit of Neonatology, Hospital Clínico Universidad de Chile, Santiago, Chile

10. Unit of Genetics, Hospital Dr Sótero del Río, Santiago, Chile

11. Department of Nutrition, Diabetes & Metabolism, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile

Abstract

Aim: To evaluate the risk of nonsyndromic orofacial clefts (NSOFCs) associated with LINE-1 methylation, as a marker of global DNA methylation, and the effect of MTHFR functional variants on this variable. Patients & methods: LINE-1 methylation was evaluated by bisulfite modification coupled to DNA pyrosequencing in 95 NSOFC cases and 95 controls. In these subjects, MTHFR genotypes for variants c.C677T (rs1801133) and c.A1298C (rs1801131) were obtained. Results: Middle levels (second tertile) of LINE-1 methylation increase the risk of NSOFCs. In addition, LINE-1 methylation depends on c.A1298C genotypes in controls but not in cases. Conclusion: A nonlinear association between global DNA methylation and NSOFCs was detected in this Chilean population, which appears to be influenced by MTHFR functional variants.

Funder

Fondo Nacional de Desarrollo Científico y Tecnológico

Publisher

Future Medicine Ltd

Subject

Cancer Research,Genetics

Link

https://www.futuremedicine.com/doi/pdf/10.2217/epi-2020-0021

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