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Investigation of CBS, MTR, RFC-1 and TC polymorphisms as maternal risk factors for Down syndrome.
Disease Markers ( IF 3.464 ) Pub Date : 2009 , DOI: 10.3233/dma-2009-0626
N Fintelman-Rodrigues 1 , J C Corrêa , J M Santos , M M G Pimentel , C B Santos-Rebouças
Affiliation  

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.

中文翻译:

CBS、MTR、RFC-1 和 TC 多态性作为唐氏综合症母体危险因素的调查。

最近的证据表明,几乎 92% 的 DS 儿童是由年轻母亲所生,这表明必须涉及高龄以外的其他风险因素。在这种情况下,一些研究表明 DS 与叶酸代谢相关基因的母体多态性之间可能存在联系。这些多态性以及叶酸摄入量低会导致基因组不稳定、DNA 低甲基化和异常分离,导致 21 三体。我们比较了CBS 844ins68、MTR 2756A>G、RFC -1 80G> A 和TC的频率776C>G 多态性在 114 名病例母亲和 110 名匹配对照中进行,以观察这些变异是否作为 DS 的危险因素。基因型分布显示两个样品之间没有显着差异。然而,当我们对上述四种多态性与先前研究的MTHFR 677C>T、MTHFR 1298A>C 和MTRR 66A>G 多态性进行乘法相互作用分析时,我们的结果表明组合基因型TC 776CC / MTHFR 677TT 和TC 776CC /港铁2756AG 在对照样品中显着更高。尽管如此,Bonferroni 校正后没有显着关联。我们的结果表明,这里研究的母体叶酸相关多态性对巴西人群受试者的 21 三体易感性没有影响。
更新日期:2020-09-25
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