Objective: To investigate the influence of MTHFR c.677C>T genotype on LINE-1 methylation in lateral and medial tissues from cleft lip (CL). Methods: Forty-five consecutive non-syndromic cleft lip with or without cleft palate (nsCL/P) cases were included in the study. Genomic DNA was extracted from tissues at both sides of cleft lip, and LINE-1 methylation was detected by bisulfite conversion and pyrosequencing. MTHFR c.677C>T genotyping was carried out using the TaqMan genotyping assay. Results: LINE-1 methylation level was significantly higher on medial side of cleft lip compared with lateral side (p = 0.001). This difference was not significantly influenced by the case's sex or cleft type. However, MTHFR c.677C>T genotyping revealed that the difference in LINE-1 methylation across cleft lip was restricted to carriers of C allele of MTHFR c.677C>T and was not apparent in TT homozygous cases (p = 0.027). Conclusion: This integrated analysis supports the previous finding of differences in DNA methylation across the two sides of cleft lip and further suggests a possible role of MTHFR c.677C>T genotype in establishing this difference.

Additional Metadata
Keywords DNA methylation, LINE-1, MTHFR c.677C>T, non-syndromic cleft lip with or without cleft palate
Persistent URL dx.doi.org/10.1111/odi.13136, hdl.handle.net/1765/117555
Journal Oral Diseases
Khan, M.F.J. (Mohammad Faisal J.), Little, J, Aleotti, V. (Valentina), Mossey, P.A, Steegers-Theunissen, R.P.M. (Régine P. M.), Autelitano, L. (Luca), … Rubini, M. (2019). LINE-1 methylation in cleft lip tissues: Influence of infant MTHFR c.677C>T genotype. Oral Diseases. doi:10.1111/odi.13136