Common polymorphism in the glycine N-methyltransferase gene as a novel risk factor for cleft lip with or without cleft palate
| Autor: | Irena Mlinarič-Raščan, Andreja Eberlinc, N. Karas Kuželički, Alenka Šmid, T. Kek, Ksenija Gersak |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Adolescent Genotype Cleft Lip Slovenia Glycine N-Methyltransferase Gastroenterology Polymorphism Single Nucleotide 03 medical and health sciences 0302 clinical medicine Environmental risk Risk Factors Internal medicine Surveys and Questionnaires medicine Humans Genetic risk Child Gene Retrospective Studies business.industry Infant Newborn Infant Odds ratio Glycine N-methyltransferase Confidence interval Cleft Palate 030104 developmental biology Otorhinolaryngology 030220 oncology & carcinogenesis Case-Control Studies Child Preschool Surgery Female Oral Surgery business |
| Zdroj: | International journal of oral and maxillofacial surgery. 47(11) |
| ISSN: | 1399-0020 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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