| Full text | |
| Author(s): |
Zampieri, Bruna Lancia
[1]
;
Biselli, Joice Matos
[1]
;
Goloni-Bertollo, Eny Maria
[1]
;
Pavarino, Erika Cristina
[1]
Total Authors: 4
|
| Affiliation: | [1] Fac Med Sao Jose Rio Preto FAMERP, Unidade Pesquisa Genet & Biol Mol UPGEM, Dept Biol Mol, BR-15090000 Sao Jose Do Rio Preto, SP - Brazil
Total Affiliations: 1
|
| Document type: | Journal article |
| Source: | GENETIC TESTING AND MOLECULAR BIOMARKERS; v. 16, n. 6, p. 628-631, JUN 2012. |
| Web of Science Citations: | 9 |
| Abstract | |
Background: Mechanisms underlying meiotic nondisjunction are poorly understood. Attempts to elucidate the causes of Down syndrome (DS) have analyzed the relationship between polymorphism in folate metabolism and DS. Aim: The role of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) G1958A and betaine-homocysteine methyltransferase (BHMT) G742A polymorphisms in DS risk was investigated. Methods: Blood samples were collected from a total of 86 DS mothers and from 161 control mothers. The investigation of the MTHFD1 G1958A polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and by real-time PCR for the BHMT G742A polymorphism. Results: The median maternal age of case mothers (30.40; 12.9-46.3 years) was significantly higher (p < 0.0005) than in the control group (26.60; 15.4-57.9 years). The frequency of BHMT variant genotypes was significantly lower in DS mothers compared with controls (p=0.047). A significant decreased risk for BHMT 742 AA genotype (odds ratio {[} OR]=0.30; 95% confidence interval {[} CI]: 0.10-0.93; p=0.037) was observed. Moreover, when the dominant model was applied (BHMT 742GA or 7428AA versus 742GG), there was also a significant decrease in DS risk (OR=0.58; 95% CI: 0.37-0.98; p=0.042). MTHFD1 G1958A genotype frequencies were not significantly altered in DS mothers (p=0.206). Conclusions: Our study suggests that the polymorphism BHMT G742A may modulate the DS risk in Brazilian mothers. (AU) | |
| FAPESP's process: | 08/10932-0 - Genetic polymorphisms on folate metabolic pathway and susceptibility to chromosome 21 nondisjunction. |
| Grantee: | Erika Cristina Pavarino |
| Support Opportunities: | Regular Research Grants |