Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population
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Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population

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Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population

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dc.contributor.author Murthy, Jyotsna es
dc.contributor.author Gurramkonda, Venkatesh-Babu es
dc.contributor.author Lakkakula, Bhaskar VKS es
dc.date.accessioned 2015-01-08T12:34:39Z
dc.date.available 2015-01-08T12:34:39Z
dc.date.issued 2014 es
dc.identifier.uri http://hdl.handle.net/10550/41153
dc.relation http://www.medicinaoral.com/pubmed/medoralv19_i6_p616.pdf es
dc.source Murthy, Jyotsna ; Gurramkonda, Venkatesh-Babu ; Lakkakula, Bhaskar VKS. Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2014, Vol. 19, No. 6: 616-621 es
dc.subject Odontología es
dc.subject Ciencias de la salud es
dc.title Significant association of MTHFD1 1958G>A single nucleotide polymorphism with nonsyndromic cleft lip and palate in Indian population es
dc.type info:eu-repo/semantics/article en
dc.type info:eu-repo/semantics/publishedVersion en
dc.subject.unesco UNESCO::CIENCIAS MÉDICAS es
dc.description.abstractenglish Objectives: Nonsyndromic cleft lip and palate (NSCLP) is genetically distinct from those with syndromic clefts, and accounts for ~70% of cases with Oral clefts. Folate, or vitamin B9, is an essential nutrient in our diet. Allelic variants in genes involved in the folate pathway might be expected to have an impact on risk of oral clefts. Given the key role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) in folate metabolism, it would be of significant interest to assess its role in NSCLP etiology. Study Design: The present study aims at examining the association between MTHFD1 1958G>A polymorphism and NSCLP risk by conducting a case-control study in south Indian population. Our sample comprised of 142 cases with nonsyndromic clefts and 141 controls without clefts or family history of clefting. The MTHFD1 1958G>A polymorphism was genotyped using PCR-RFLP. Results: An increased risk was found for the heterozygous 1958GA (OR=2.44; P =0.020) and homozygous 1958AA (OR=2.45; P =0.012) genotypes in the children. When the dominant model (AG+AA vs GG) was applied the risk remained the same as co-dominant model, but the level of significance increased (OR=2.44; P =0.002). Conclusions: The results indicated the MTHFD1 1958G>A polymorphism to be one of the important genetic determinants of NSCLP risk in South Indian subjects. es

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