Mohammad Faisal J Khan1, Julian Little2, Peter A Mossey3, Régine Pm Steegers-Theunissen4, Luca Autelitano5, Ilenia Lombardo1, Rita Bassi Andreasi1, Michele Rubini1. 1. Department of Biomedical & Specialty Surgical Sciences, Section of Medical Biochemistry, Molecular Biology & Genetics, University of Ferrara, Ferrara, Italy. 2. School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada. 3. Craniofacial Development at the WHO-collaborating Centre for Oral & Craniofacial Research, Dental Hospital & School, University of Dundee, Dundee, Scotland. 4. Department of Obstetrics & Gynaecology, Department of Pediatrics, Division Neonatology Erasmus MC, University Medical Center, Rotterdam, The Netherlands. 5. Department of Cranio-Maxillo-Facial Surgery, Regional Centre for Orofacial Clefts & Craniofacial Anomalies, San Paolo Hospital, University of Milan, Milan, Italy.
Abstract
AIM: To pilot investigation of methylation of long interspersed nucleotide element-1 in lip tissues from infants with nonsyndromic cleft lip, and its association with maternal periconceptional exposures. METHODS: The lateral and medial sides of the cleft lips of 23 affected infants were analyzed for long interspersed nucleotide element-1 methylation by bisulfite conversion and pyrosequencing. RESULTS: The medial side showed 1.8% higher methylation compared with the lateral side; p = 0.031, particularly in male infants (2.7% difference; p = 0.011) or when the mothers did not take folic acid during periconceptional period (2.4% difference; p = 0.011). These results were not statistically significant when Bonferroni adjustment was used. CONCLUSION: The observed differences in DNA methylation, although nonsignificant after correction for multiple comparisons, suggest that differential regulation of the two sides may impact lip fusion and warrant larger-scale replication.
AIM: To pilot investigation of methylation of long interspersed nucleotide element-1 in lip tissues from infants with nonsyndromic cleft lip, and its association with maternal periconceptional exposures. METHODS: The lateral and medial sides of the cleft lips of 23 affected infants were analyzed for long interspersed nucleotide element-1 methylation by bisulfite conversion and pyrosequencing. RESULTS: The medial side showed 1.8% higher methylation compared with the lateral side; p = 0.031, particularly in male infants (2.7% difference; p = 0.011) or when the mothers did not take folic acid during periconceptional period (2.4% difference; p = 0.011). These results were not statistically significant when Bonferroni adjustment was used. CONCLUSION: The observed differences in DNA methylation, although nonsignificant after correction for multiple comparisons, suggest that differential regulation of the two sides may impact lip fusion and warrant larger-scale replication.
Entities:
Keywords:
DNA methylation; LINE-1; cleft lip with or without cleft palate
Authors: Carlos Salamanca; Patricio González-Hormazábal; Andrea S Recabarren; Pamela A Recabarren; Roberto Pantoja; Noemi Leiva; Rosa Pardo; José Suazo Journal: Pediatr Res Date: 2020-06-03 Impact factor: 3.756