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)

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)
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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
Issue number6
Early online date4 Jun 2019
Publication statusPublished - Sept 2019


  • 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

ASJC Scopus subject areas

  • General Dentistry
  • Otorhinolaryngology


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