Evaluating LINE-1 methylation in cleft lip tissues and its association with early pregnancy exposures

Mohammad Faisal J. Khan, Julian Little, Peter A. Mossey, Régine P. M. Steegers-Theunissen, Luca Autelitano, Ilenia Lombardo, Rita Bassi Andreasi, Michele Rubini (Lead / Corresponding author)

Research output: Contribution to journalArticlepeer-review

15 Citations (Scopus)
271 Downloads (Pure)


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.

Original languageEnglish
Pages (from-to)105-113
Number of pages9
Issue number1
Early online date29 Nov 2017
Publication statusPublished - Jan 2018


  • cleft lip with or without cleft palate
  • DNA methylation
  • LINE-1
  • Long Interspersed Nucleotide Elements/genetics
  • Humans
  • Infant
  • Male
  • Maternal Exposure
  • Pregnancy
  • DNA Methylation
  • Folic Acid/therapeutic use
  • Female
  • Cleft Lip/genetics
  • Dietary Supplements

ASJC Scopus subject areas

  • Genetics
  • Cancer Research


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