Genetic and non-genetic factors that increase the risk of non-syndromic cleft lip and/or palate development

Objectives We investigated the relationship between non‐syndromic cleft lip/palate (NSCLP) and polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and RFC1, as well as the corresponding interactions with environmental factors...

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Published in:	Oral diseases Vol. 21; no. 3; pp. 393 - 399
Main Authors:	Bezerra, JF, Oliveira, GHM, Soares, CD, Cardoso, ML, Ururahy, MAG, Neto, FPF, Lima-Neto, LG, Luchessi, AD, Silbiger, VN, Fajardo, CM, de Oliveira, SR, Almeida, M das G, Hirata, RDC, de Rezende, AA, Hirata, MH
Format:	Journal Article
Language:	English
Published:	Denmark Blackwell Publishing Ltd 01-04-2015 Wiley Subscription Services, Inc
Subjects:	5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase - genetics Adolescent Adult alcohol consumption Alcohol Drinking Birth defects Brain - abnormalities Case-Control Studies Child Cleft Lip - genetics cleft lip and/or palate Cleft Palate - genetics Female Ferredoxin-NADP Reductase - genetics folic acid Folic Acid - blood gene polymorphisms Gene-Environment Interaction Genetics Homocysteine - blood Humans Male Methylenetetrahydrofolate Reductase (NADPH2) - genetics Oral diseases Polymorphism Polymorphism, Genetic Pregnancy Prenatal Exposure Delayed Effects - genetics Replication Protein C - genetics Young Adult Brazil, Rio Grande do Norte cleft lip and/or palate alcohol consumption folic acid gene polymorphisms
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Summary:	Objectives We investigated the relationship between non‐syndromic cleft lip/palate (NSCLP) and polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), and RFC1, as well as the corresponding interactions with environmental factors. Subjects and Methods One hundred and forty NSCLP patients and their mothers, as well as 175 control individuals and their mothers, were recruited. Information regarding smoking and alcohol consumption was recorded. Blood samples were obtained in order to measure serum folate and cobalamin, as well as, plasma total homocysteine concentrations and to extract DNA. Polymorphisms in MTHFR(677C>T and 1298A>C), MTR(2756A>G), MTR(66A>G), and RFC1(80A>G) were analyzed by PCR–restriction fragment length polymorphism. Results Among the patients, 59.5% had cleft lip and palate, 22.0% had cleft palate, and 18.5% had cleft lip only. Maternal alcohol consumption and reduced folic acid concentrations in both children and mothers (P < 0.001 and P = 0.003, respectively) were risk factors for NSCLP. Patients and their mothers carrying the MTHFR 667T allele showed lower serum folate than CC (P = 0.011 and P = 0.030, respectively). Mothers who carried the MTHFR 1298C allele exhibited increased risk of having a child with NSCLP, after adjusting for alcohol consumption (OR: 1.75, 95% CI: 1.03–2.99, P = 0.038). Conclusions Reduced folic acid levels, alcohol consumption, and the MTHFR 677T and 1298C alleles may have contributed to NSCLP development in this sample population from Rio Grande do Norte.
Bibliography:	CNPq, Brazil CAPES, Brazil Data S1. Questionnaire to collect personal data. Fundação de Amparo à Pesquisa de São Paulo - No. 2008/05064-9 istex:F27F8680808CE0CEF42CA5CF1006D6A6C2DAAC4A ArticleID:ODI12292 ark:/67375/WNG-7M1G0KG5-J ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1354-523X 1601-0825
DOI:	10.1111/odi.12292