Disease Markers

Disease Markers / 2009 / Article

Open Access

Volume 26 |Article ID 504625 | https://doi.org/10.3233/DMA-2009-0626

N. Fintelman-Rodrigues, J. C. Corrêa, J. M. Santos, M. M. G. Pimentel, C. B. Santos-Rebouças, "Investigation of CBS, MTR, RFC-1 and TC Polymorphisms as Maternal Risk Factors for Down Syndrome", Disease Markers, vol. 26, Article ID 504625, 7 pages, 2009. https://doi.org/10.3233/DMA-2009-0626

Investigation of CBS, MTR, RFC-1 and TC Polymorphisms as Maternal Risk Factors for Down Syndrome

Received19 Aug 2009
Accepted19 Aug 2009


Recent evidence shows that almost 92% of the DS children are born from young mothers, suggesting that other risk factors than advanced maternal age must be involved. In this context, some studies demonstrated a possible link between DS and maternal polymorphisms in genes involved in folate metabolism. These polymorphisms, as well as low intake of folate could generate genomic instability, DNA hypomethylation and abnormal segregation, leading to trisomy 21. We compared the frequency of CBS 844ins68, MTR 2756A>G, RFC-1 80G&gt A and TC 776C>G polymorphisms among 114 case mothers and 110 matched controls, in order to observe whether these variants act as risk factors for DS. The genotype distributions revealed that there were not significant differences between both samples. However, when we proceed the multiplicative interaction analyses between the four polymorphisms described above together with the previously studied MTHFR 677C>T, MTHFR 1298A>C and MTRR 66A>G polymorphisms, our results show that the combined genotype TC 776CC / MTHFR 677TT and TC 776CC / MTR 2756AG were significantly higher in the control sample. Nevertheless, there was no significant association after Bonferroni correction. Our results suggest that maternal folate-related polymorphisms studied here have no influence on trisomy 21 susceptibility in subjects of Brazilian population.

Copyright © 2009 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Related articles

No related content is available yet for this article.
 PDF Download Citation Citation
 Order printed copiesOrder

Article of the Year Award: Outstanding research contributions of 2021, as selected by our Chief Editors. Read the winning articles.