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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Keywords cleft lip with or without cleft palate, DNA methylation, LINE-1
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Journal Epigenomics
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Khan, M.F.J. (Mohammad Faisal J.), Little, J. (Julian), Mossey, P.A, Steegers-Theunissen, R.P.M, Autelitano, L. (Luca), Lombardo, I. (Ilenia), … Rubini, M. (2018). Evaluating LINE-1 methylation in cleft lip tissues and its association with early pregnancy exposures. Epigenomics, 10(1), 105–113. doi:10.2217/epi-2017-0081