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Int J Oral Maxillofac Surg. 2018 Nov;47(11):1381-1388. doi: 10.1016/j.ijom.2018.06.001. Epub 2018 Jun 30.

Common polymorphism in the glycine N-methyltransferase gene as a novel risk factor for cleft lip with or without cleft palate.

Author information

1
Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia.
2
Clinical Institute of Medical Genetics, Department of Obstetrics and Gynaecology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
3
Department of Maxillofacial and Oral Surgery, University Medical Centre Ljubljana, Ljubljana, Slovenia.
4
Faculty of Pharmacy, University of Ljubljana, Ljubljana, Slovenia. Electronic address: Irena.Mlinaric-Rascan@ffa.uni-lj.si.

Abstract

The objective of this study was to identify new environmental and genetic risk factors for orofacial clefts that arise during early foetal development. In this retrospective, case-control, mother-child pair study, 172 orofacial clefts cases and 199 healthy controls, and their respective mothers, were genotyped for common variants in relevant genes obtained by text and database mining using STRING 10.0. Exposure to environmental risk factors was evaluated using questionnaires. Variant glycine N-methyltransferase (odds ratio (OR) 2.1, 95% confidence interval (95% CI) 1.0-4.4) and dihydrofolate reductase (OR 2.4, 95% CI 1.3-4.5) genotypes were identified as risk factors for cleft lip with or without cleft palate formation. Furthermore, synergy was detected between variant glycine N-methyltransferase and dihydrofolate reductase genotypes in promoting cleft lip with or without cleft palate formation (OR 7, 95% CI 2-23). This study is novel in finding that common glycine N-methyltransferase variant genotypes increase the risk of cleft lip with or without cleft palate.

KEYWORDS:

cleft lip; cleft palate; dihydrofolate reductase; folate; glycine N-methyltransferase; orofacial clefts

PMID:
30318092
DOI:
10.1016/j.ijom.2018.06.001
[Indexed for MEDLINE]

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