Title |
Genetic Variants in Folate and Cobalamin Metabolism-Related Genes in Nonsyndromic Cleft Lip and/or Palate
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Published in |
Brazilian Dental Journal, December 2015
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DOI | 10.1590/0103-6440201300394 |
Pubmed ID | |
Authors |
Márcia Waltrick-Zambuzzi, Patricia Nivoloni Tannure, Thays Cristine dos Santos Vieira, Leonardo Santos Antunes, Fábio Lourenço Romano, Willian Fernando Zambuzzi, José Mauro Granjeiro, Erika Calvano Küchler |
Abstract |
The aim of this study was to evaluate the association of the polymorphisms in TCN2 (rs1801198) gene and in MTRR (rs1801394) gene with nonsyndromic cleft lip and/or palate (NSCL/P) in a Brazilian population. Genomic DNA was extracted from buccal cells. The polymorphisms in TCN2 (rs1801198) and MTRR (rs1801394) genes were genotyped by carrying out real-time PCR and Taqman assay. Chi-square test was used to determine the association between genotype and allele frequencies with NSCL/P and NSCL/P subgroups (cleft lip only, cleft lip and palate, and cleft palate only). Eight hundred and sixty seven unrelated individuals (401 cases with NSCL/P and 466 individuals without cleft) were evaluated. Genotype distributions of TCN2 and MTRR polymorphisms were in Hardy-Weinberg equilibrium. The TCN2 polymorphic genotype GG was identified in 16.7% of the NSCL/P group and in 14.1% of the non-cleft group (p>0.05). Similarly, the frequency of MTRR genotype (GG) was similar in NSCL/P group (15.5%) and control group (17.8%) (p>0.05). Multivariate analysis showed an association between MTRR and the subgroup that the mother smoked during pregnancy (p=0.039). Our findings did not demonstrate an association between TCN2 polymorphisms and NSCL/P, however suggests an association between MTRR and NSCL/P etiology. |
X Demographics
Geographical breakdown
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Unknown | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
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Unknown | 38 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 6 | 16% |
Student > Doctoral Student | 4 | 11% |
Student > Master | 4 | 11% |
Researcher | 3 | 8% |
Student > Postgraduate | 3 | 8% |
Other | 9 | 24% |
Unknown | 9 | 24% |
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Biochemistry, Genetics and Molecular Biology | 4 | 11% |
Nursing and Health Professions | 3 | 8% |
Computer Science | 1 | 3% |
Agricultural and Biological Sciences | 1 | 3% |
Other | 2 | 5% |
Unknown | 12 | 32% |