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

doi:10.1111/odi.13136

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)

Dentistry

Research output: Contribution to journal › Article › peer-review

11 Citations (Scopus)

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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 language	English
Pages (from-to)	1668-1671
Number of pages	4
Journal	Oral Diseases
Volume	25
Issue number	6
Early online date	4 Jun 2019
DOIs	https://doi.org/10.1111/odi.13136
Publication status	Published - Sept 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

ASJC Scopus subject areas

General Dentistry
Otorhinolaryngology

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10.1111/odi.13136

Author Accepted ManuscriptAccepted author manuscript, 316 KB

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@article{75c09fce7a4142c3a1c09930594e29c6,

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

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.",

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",

author = "Faisel Khan and Julian Little and Valentina Aleotti and Peter Mossey and Steegers-Theunissen, {R{\'e}gine P. M.} and Luca Autelitano and Meazzini, {Maria Costanza} and Amin Ravaei and Michele Rubini",

note = "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",

year = "2019",

month = sep,

doi = "10.1111/odi.13136",

language = "English",

volume = "25",

pages = "1668--1671",

journal = "Oral Diseases",

issn = "1354-523X",

publisher = "Wiley",

number = "6",

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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 - http://www.scopus.com/inward/record.url?scp=85067847942&partnerID=8YFLogxK

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 -

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

Abstract

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ASJC Scopus subject areas

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Mossey, Peter

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

Abstract

Keywords

ASJC Scopus subject areas

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Mossey, Peter

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