Abstract
Objective: To evaluate the possible association of a polymorphism in the gene encoding methylenetetrahydrofolate dehydrogenase 1 (MTHFD1), 1958G>A, with the susceptibility to orofacial cleft in an Indonesian population. Material and Methods: A total of 200 stored secondary biological samples from 30 cases of orofacial cleft and 170 unaffected controls were analyzed to determine the polymorphism status at base 1958. The analysis was conducted using the PCR-restriction fragment length polymorphism technique after digestion with the Msp1 restriction enzyme . The samples were then subjected to agarose gel electrophoresis to investigate the presence or absence of the following fragments: genotype GG, 196, 86 and 40 base pairs (bp); genotype AA, 282 and 28 bp and genotype AG, 282, 196, 86, 40 and 28 bp. The test groups were compared using the Chi-square test. Results: The wild-type allele containing 1958G, as well as the genotype GG, were significantly more common in the control group than in the orofacial cleft group. Conclusion: The MTHFD1 1958G>A polymorphism was significantly associated with orofacial cleft susceptibility in the tested Indonesian population.
Highlights
Orofacial cleft is a type of congenital malformation of the oral cavity and palate [1]
The methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) 1958G>A polymorphism was significantly associated with orofacial cleft susceptibility in the tested Indonesian population
The study included secondary biological samples of DNA from peripheral blood of 30 cases of orofacial cleft and 170 unaffected controls using the techniques by previous authors [9,10,11], which were made available from the Oral Biology Laboratory of the Faculty of Dentistry, Universitas Indonesia
Summary
Orofacial cleft is a type of congenital malformation of the oral cavity and palate [1]. Previous epidemiologic studies have suggested that the overall prevalence of orofacial cleft is approximately 2 cases per 1000 births. Non-syndromic orofacial cleft is a multifactorial condition attributed to both genetic and environmental factors, including maternal smoking, alcohol consumption and folate deficiency during the peri-conceptual period [3,4]. Folic acid deficiency has a known impact on the manifestation of orofacial cleft, and on other congenital malformations such as neural tube defects. In addition to environmental factors, several genes have been identified as potential contributors to the developmental embryogenesis of orofacial cleft. These genes include MTHFD1, a gene that encodes methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and is involved in folate metabolism [5,6]. MTHFD1, which has a chromosomal location of 14q23.3, plays an important role in the generation of onecarbon metabolic derivatives of tetrahydrofolate, including 5,10-methylenetetrahydrofolate cyclohydrolase, 10formyl tetrahydrofolate and 5,10-methylenetetrahydrofolate dehydrogenase [5]
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