LINE-1 methylation in cleft lip tissues: influence of infant MTHFR c.677C>T genotype

Faisel Khan, Julian Little, Valentina Aleotti, Peter Mossey, Régine P. M. Steegers-Theunissen, Luca Autelitano, Maria Costanza Meazzini, Amin Ravaei, Michele Rubini (Lead / Corresponding author)

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Abstract

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.

Original languageEnglish
Pages (from-to)1668-1671
Number of pages4
JournalOral Diseases
Volume25
Issue number6
Early online date4 Jun 2019
DOIs
Publication statusPublished - Sep 2019

Keywords

  • DNA methylation
  • LINE-1
  • MTHFR c.677C>T
  • non-syndromic cleft lip with or without cleft palate
  • Humans
  • Genotype
  • Infant
  • Case-Control Studies
  • Polymorphism, Genetic
  • DNA Methylation
  • Methylenetetrahydrofolate Reductase (NADPH2)/genetics
  • Cleft Lip/genetics
  • Polymorphism, Single Nucleotide
  • Cleft Palate/genetics
  • MTHFR c.677C > T

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    Mossey, Peter

    • Dentistry - Professor (Clinical) & Personal Chair of Craniofacial Dev & Dentofacial Orthopaeds

    Person: Academic

    Cite this

    Khan, F., Little, J., Aleotti, V., Mossey, P., Steegers-Theunissen, R. P. M., Autelitano, L., Meazzini, M. C., Ravaei, A., & Rubini, M. (2019). LINE-1 methylation in cleft lip tissues: influence of infant MTHFR c.677C>T genotype. Oral Diseases, 25(6), 1668-1671. https://doi.org/10.1111/odi.13136