PMID: 11170082Feb 15, 2001

C677T variant form at the MTHFR gene and CL/P: a risk factor for mothers?

American Journal of Medical Genetics
Marcella MartinelliMauro Tognon

Abstract

Maternal folic acid supplementation in early pregnancy has been suggested to play a role in the prevention of nonsyndromic orofacial cleft, i.e., cleft lip with or without cleft palate (CL/P). Moreover, some authors demonstrated association of the C-->T mutation (C677T), converting an alanine to a valine residue in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, with other congenital anomalies such as neural tube defects (NTDs). Because of MTHFR's involvement in the metabolism of folate, we investigated 64 CL/P patients and their parents for C677T MTHFR mutation. No linkage disequilibrium was found using the transmission disequilibrium test (TDT). However, a significantly higher mutation frequency was detected in mothers of CL/P patients compared to controls. The odds ratios calculated for mothers having CT or TT genotype, compared to the normal CC genotype, were 2.75 (95% confidence interval 1.30-5.57) and 2.51 (1.00-6.14), respectively. These results support the involvement of the folate pathway in the etiology of CL/P, and indicate an effect of the maternal genotype, rather than influence of the embryo's genotype.

References

Dec 24, 1992·The New England Journal of Medicine·A E Czeizel, I Dudás
Oct 19, 1999·Teratology·W Y WongRégine P M Steegers-Theunissen
Feb 12, 2000·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Francesco CarinciMauro Tognon

Citations

Feb 4, 2005·American Journal of Medical Genetics. Part a·Luca ScapoliPaolo Carinci
May 22, 2001·Prenatal Diagnosis·L C HornJ Spranger
Dec 24, 2013·European Journal of Medical Genetics·Marcella MartinelliLuca Scapoli
May 29, 2002·Clinical Genetics·J C Murray
Jun 28, 2008·International Journal of Epidemiology·Candice Y Johnson, Julian Little
Dec 26, 2001·Current Opinion in Pediatrics·Richard A Spritz
Oct 11, 2001·Clinical Chemistry and Laboratory Medicine : CCLM·W L Nelen
Jul 12, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Julian LittleITS MAGIC Collaboration
May 3, 2008·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Heiko ReutterElisabeth Mangold
Jun 27, 2002·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·B Schwahn, R Rozen
Nov 3, 2009·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Jyotsna Murthy, L V K S Bhaskar
Nov 4, 2009·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Peter Mossey, Julian Little
Nov 4, 2009·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Wenli YuKathy K H Svoboda
Jun 4, 2013·International Journal of Pediatric Otorhinolaryngology·Deniz AşlarHakkı Taştan
May 19, 2009·Journal of Genetics and Genomics = Yi Chuan Xue Bao·Mehmet A SözenRichard A Spritz
Jul 29, 2008·Birth Defects Research. Part A, Clinical and Molecular Teratology·James L MillsPeadar N Kirke
Mar 28, 2012·Birth Defects Research. Part A, Clinical and Molecular Teratology·Ya L LuoQing Chen
Jul 17, 2010·American Journal of Medical Genetics. Part a·José SuazoRafael Blanco
May 14, 2011·European Journal of Oral Sciences·Marcella MartinelliLuca Scapoli
Jun 20, 2014·Journal of Cranio-maxillo-facial Surgery : Official Publication of the European Association for Cranio-Maxillo-Facial Surgery·Ambra GirardiLuca Scapoli
Mar 27, 2015·Birth Defects Research. Part A, Clinical and Molecular Teratology·Pamella Kelly Farias de AguiarDarlene Camati Persuhn
Feb 12, 2011·Archives of Oral Biology·L V K S BhaskarG Venkatesh Babu
Jun 22, 2007·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·A P C BrandalizeL Schüler-Faccini
Sep 18, 2008·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·A R VieiraIêda M Orioli
Nov 5, 2003·American Journal of Medical Genetics. Part a·D F WyszynskiJoan E Bailey-Wilson
Mar 7, 2003·The Journal of Craniofacial Surgery·Francesco CarinciMauro Tognon
Feb 3, 2004·American Journal of Medical Genetics. Part a·R E SchultzJeffrey C Murray
Feb 3, 2004·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·L D BottoJ David Erickson
Jul 20, 2004·Birth Defects Research. Part A, Clinical and Molecular Teratology·Ronald G MungerFlorentino S Solon
Apr 30, 2003·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·William G Johnson
Sep 10, 2003·Birth Defects Research. Part A, Clinical and Molecular Teratology·Domenica TaruscioAnna Velia Stazi
Jan 16, 2007·American Journal of Medical Genetics. Part a·Cécile ChevrierSylvaine Cordier
Jan 19, 2008·American Journal of Medical Genetics. Part a·Abee L BoylesRolv Terje Lie
Nov 13, 2007·The Journal of Craniofacial Surgery·Rosario RulloFrancesco Carinci
Jun 1, 2005·Plastic and Reconstructive Surgery·Barry L EppleyA Michael Sadove
Jul 12, 2005·American Journal of Medical Genetics. Part a·Michele RubiniElisa Calzolari
Mar 16, 2002·Journal of Perinatology : Official Journal of the California Perinatal Association·Jennifer L GrowSteven W Pipe
Feb 14, 2006·American Journal of Medical Genetics. Part a·JiangHui ZhuZhu Li
Apr 14, 2007·American Journal of Medical Genetics. Part a·Anna Verkleij-HagoortRégine P M Steegers-Theunissen
Jul 16, 2020·Birth Defects Research·Kurt ReynoldsChengji J Zhou
Jul 26, 2011·International Journal of Immunopathology and Pharmacology·Marcella MartinelliLuca Scapoli
Oct 31, 2019·International Journal of Immunopathology and Pharmacology·Francesco CarinciMarcella Martinelli
Oct 31, 2019·International Journal of Immunopathology and Pharmacology·Francesco CarinciMarcella Martinelli

Related Concepts

Alleles
Oxidoreductases Acting on CH-NH Group Donors
Cleft Lip
Cleft Palate, Isolated
DNA, Double-Stranded
Family Health Status
Genetic Equilibrium
Linkage Disequilibrium
Amino Acid Substitution
Methylenetetrahydrofolate reductase (NADPH)

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