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母体患唐氏综合征的风险受叶酸代谢相关基因的调节。

Maternal risk for Down syndrome is modulated by genes involved in folate metabolism.

机构信息

Unidade de Pesquisa em Genética e Biologia Molecular (UPGEM), São José do Rio Preto, São Paulo, Brazil.

出版信息

Dis Markers. 2012;32(2):73-81. doi: 10.3233/DMA-2011-0869.

DOI:10.3233/DMA-2011-0869
PMID:22377700
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3826801/
Abstract

Studies have shown that the maternal risk for Down syndrome (DS) may be modulated by alterations in folate metabolism. The aim of this study was to evaluate the influence of 12 genetic polymorphisms involved in folate metabolism on maternal risk for DS. In addition, we evaluated the impact of these polymorphisms on serum folate and plasma methylmalonic acid (MMA, an indicator of vitamin B_{12} status) concentrations. The polymorphisms transcobalamin II (TCN2) c.776C>G, betaine-homocysteine S-methyltransferase (BHMT) c.742A>G, methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR) c.677 C>T and the MTHFR 677C-1298A-1317T haplotype modulate DS risk. The polymorphisms MTHFR c.677C>T and solute carrier family 19 (folate transporter), member 1 (SLC19A1) c.80 A>G modulate folate concentrations, whereas the 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR) c.66A>G polymorphism affects the MMA concentration. These results are consistent with the modulation of the maternal risk for DS by these polymorphisms.

摘要

研究表明，叶酸代谢的改变可能会调节唐氏综合征（DS）的母体风险。本研究旨在评估参与叶酸代谢的 12 种遗传多态性对 DS 母体风险的影响。此外，我们还评估了这些多态性对血清叶酸和血浆甲基丙二酸（MMA，维生素 B12状态的指标）浓度的影响。转钴胺素 II（TCN2）c.776C>G、甜菜碱-同型半胱氨酸 S-甲基转移酶（BHMT）c.742A>G、亚甲基四氢叶酸还原酶（NAD（P）H）（MTHFR）c.677 C>T 和 MTHFR 677C-1298A-1317T 单倍型调节 DS 风险。MTHFR c.677C>T 和溶质载体家族 19（叶酸转运蛋白）成员 1（SLC19A1）c.80 A>G 多态性调节叶酸浓度，而 5-甲基四氢叶酸-同型半胱氨酸甲基转移酶还原酶（MTRR）c.66A>G 多态性影响 MMA 浓度。这些结果与这些多态性对 DS 母体风险的调节一致。

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