The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women.
The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women.
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DOI：
10.1111/j.1469-1809.2009.00529.x
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发表时间：
2009-09
影响因子：
1.9
通讯作者：
Whitehead AS
中科院分区：
文献类型：
--
作者：
Stanisławska-Sachadyn A;Mitchell LE;Woodside JV;Buckley PT;Kealey C;Young IS;Scott JM;Murray L;Boreham CA;McNulty H;Strain JJ;Whitehead AS
低叶酸状态可能是叶酸的次优摄入、转运或细胞利用的结果，并且与升高的同型半胱氨酸一起，是几种人类病理学的公认风险因素/标志物。由于叶酸跨细胞膜转运部分由还原叶酸载体（RFC 1）介导，该基因内的变体可能通过影响叶酸和/或同型半胱氨酸水平来影响疾病风险。本研究旨在评估北方爱尔兰健康年轻人SLC 19 A1（RFC 1）c.80 G>A多态性与叶酸/同型半胱氨酸浓度之间的关联。在男性或女性中，SLC 19 A1 c.80G>A多态性与血清叶酸或同型半胱氨酸浓度没有强相关性。然而，在女性中，而不是在男性中，这种多态性解释了5%的红细胞（RBC）叶酸水平的变化（P=0.02）。相对于SLC 19 A1 c.80GG基因型的女性，GA和AA基因型的女性具有更高的RBC叶酸浓度。因此，与SLC 19 A1 c.80AA和GA基因型的女性相比，80 G等位基因纯合的女性可能会增加患神经管缺陷和发展与叶酸不足相关的病理学的风险，如心血管疾病。
Low folate status may be a consequence of suboptimal intake, transport or cellular utilization of folate and, together with elevated homocysteine, is a recognized risk factor/marker for several human pathologies. As folate transport across cell membranes is mediated in part by the reduced folate carrier (RFC1), variants within this gene may influence disease risk via an effect on folate and/or homocysteine levels. The present study was undertaken to assess the association between the SLC19A1 (RFC1) c.80G>A polymorphism and folate/homocysteine concentrations in healthy young adults from Northern Ireland. The SLC19A1 c.80G>A polymorphism was not strongly associated with either serum folate or homocysteine concentrations in either men or women. However, in women, but not in men, this polymorphism explained 5% of the variation in red blood cell (RBC) folate levels (P=0.02). Relative to women with the SLC19A1 c.80GG genotype, women with the GA and AA genotypes had higher RBC folate concentrations. Consequently, compared to women with the SLC19A1 c.80AA and GA genotypes, women who are homozygous for the 80G allele may be at increased risk of having a child affected with a neural tube defect and of developing pathologies that have been associated with folate insufficiency, such as cardiovascular disease.
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影响因子：
158.5
作者：
CZEIZEL, AE;DUDAS, I
通讯作者：
DUDAS, I
影响因子：
3.9
作者：
Fredriksen, Ase;Meyer, Klaus;Schneede, Jorn
通讯作者：
Schneede, Jorn
影响因子：
5.2
作者：
Gallagher, AM;Savage, JM;Boreham, CA
通讯作者：
Boreham, CA
影响因子：
3.8
作者：
Relton, CL;Wilding, CS;Burn, J
通讯作者：
Burn, J
DOI：
10.1097/00008571-200411000-00004
发表时间：
2004-11-01
期刊：
PHARMACOGENETICS
影响因子：
--
作者：
Dervieux, T;Kremer, J;Furst, DE
通讯作者：
Furst, DE