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Evaluating LINE-1 methylation in cleft lip tissues and its association with early pregnancy exposures
Mohammad Faisal J Khan1, Julian Little2, Peter A Mossey3
1Department of Biomedical & Specialty Surgical Sciences, Section of Medical Biochemistry, Molecular Biology & Genetics, University of Ferrara, Ferrara, Italy.
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.
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