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

TY - JOUR

T1 - LINE-1 methylation in cleft lip tissues

T2 - influence of infant MTHFR c.677C>T genotype

AU - Khan, Faisel

AU - Little, Julian

AU - Aleotti, Valentina

AU - Mossey, Peter

AU - Steegers-Theunissen, Régine P. M.

AU - Autelitano, Luca

AU - Meazzini, Maria Costanza

AU - Ravaei, Amin

AU - Rubini, Michele

N1 - This study was partly supported by FAR-2018 grant from University of Ferrara and from Department of Biomedical and Specialty Surgical Sciences, Section of Medical Biochemistry, Molecular Biology and Genetics, University of Ferrara, Italy, Grant/Award Number: 62040 and 0039804

PY - 2019/9

Y1 - 2019/9

N2 - 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.

AB - 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.

KW - DNA methylation

KW - LINE-1

KW - MTHFR c.677C>T

KW - non-syndromic cleft lip with or without cleft palate

KW - Humans

KW - Genotype

KW - Infant

KW - Case-Control Studies

KW - Polymorphism, Genetic

KW - DNA Methylation

KW - Methylenetetrahydrofolate Reductase (NADPH2)/genetics

KW - Cleft Lip/genetics

KW - Polymorphism, Single Nucleotide

KW - Cleft Palate/genetics

KW - MTHFR c.677C > T

UR - https://www.scopus.com/pages/publications/85067847942

U2 - 10.1111/odi.13136

DO - 10.1111/odi.13136

M3 - Article

C2 - 31161688

SN - 1354-523X

VL - 25

SP - 1668

EP - 1671

JO - Oral Diseases

JF - Oral Diseases

IS - 6

ER -