Polymorphisms in genes MTHFR, MTR and MTRR are not risk factors for cleft lip/palate in South Brazil

Abstract

Non-syndromic cleft lip and palate (CL/P) occurs due to interaction between genetic and environmental factors. Abnormalities in homocysteine metabolism may play a role in its etiology due to polymorphisms in genes involved in this pathway. Because of the involvement of MTHFR, MTR and MTRR genes with folate metabolism and the evidence that maternal use of folic acid in early pregnancy reduces the risk for CL/P, we evaluated the influence of their polymorphisms on the etiology of CL/P through a case-control study. The analyses involved 114 non-syndromic phenotypically white children with clefts (case) and 110 mothers, and 100 non-affected (control) children and their mothers. The polymorphisms 677C>T of MTHFR, 2756A>G of MTR, and 66A>G of MTRR genes were analyzed by PCR-RFLP. Allelic frequencies did not differ from other studies conducted on white populations for MTHFR 677T allele (0.35) and for MTR 2756G allele (0.17), but MTRR 66G allele frequency (0.35) was lower than observed elsewhere. The genotypic distribution of the 677C>T polymorphisms under study did not show significant differences between CL/P patients, their mothers and controls. These results suggest that the alterations of folate metabolism related to these polymorphisms are not involved in clefting in the population under study.

Primary prevention of neural tube defects in Brazil: insights into anencephaly

“…Other folates and NTD-related genes, such as methylenetetra-hydrofolate dehydrogenase (MTHFD), have not been evaluated in Brazilian population yet. Brazilian antecedents on the prevalence of the 677C>T mutation came from different populations and ethnic groups and in general, they indicated a prevalence below 10 % of TT homozygous individuals and higher prevalence of the mutation in individuals with European than African or Amerindian ancestry (Ferreira-Fernandes et al 2013;Franco et al 1998;Brandalize et al 2007;Arruda et al 1998). …”

Prothrombotic Polymorphisms and Long-Term Prognosis of Patients With Stable Ischemic Heart Disease

“…The following enzymes play the key role in this process: MTHFR, MTR, MTRR, and TCN II [12,13,[21][22][23][24][25][26][27][28][29][30]. таких пациентов генетического исследования, направлен-ного на поиск тромбофилий.…”

Individualized Supplementation of Folic Acid According to Polymorphisms of Methylenetetrahydrofolate Reductase (MTHFR), Methionine Synthase Reductase (MTRR) Reduced Pregnant Complications

“…Methionine synthase reductase (MTRR) is a related flavoprotein that maintains the methionine synthase enzyme in an active state for the remethylation of homocysteine to methionine. A previous study demonstrated that polymorphisms in MTHFR [11], MTRR and methionine synthase (MTR) could play roles in the mechanisms predisposing for clefting, Down syndrome [12]. So far, the association between SNPs of these enzymes and folic acid status has not been fully elucidated.…”