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本文引用的文献

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Profiling single nucleotide polymorphisms (SNPs) across intracellular folate metabolic pathway in healthy Indians.在健康的印度人群体中分析细胞内叶酸代谢途径中的单核苷酸多态性(SNPs)。
Indian J Med Res. 2011 Mar;133(3):274-9.
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Reduced risk of Alzheimer's disease with high folate intake: the Baltimore Longitudinal Study of Aging.高叶酸摄入量可降低患阿尔茨海默病的风险:巴尔的摩衰老纵向研究
Alzheimers Dement. 2005 Jul;1(1):11-8. doi: 10.1016/j.jalz.2005.06.001.
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A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology.唐氏综合征病因中还原型叶酸载体1(RFC1)的A80G多态性及转钴胺素2(TC2)基因的C776G多态性
Sao Paulo Med J. 2008 Nov;126(6):329-32. doi: 10.1590/s1516-31802008000600007.
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Association of RFC1 A80G and MTHFR C677T polymorphisms with Alzheimer's disease.RFC1基因A80G多态性和亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与阿尔茨海默病的关联
Neurobiol Aging. 2009 Oct;30(10):1601-7. doi: 10.1016/j.neurobiolaging.2007.12.010. Epub 2008 Feb 6.
5
Associations of common polymorphisms in the thymidylate synthase, reduced folate carrier and 5-aminoimidazole-4-carboxamide ribonucleotide transformylase/inosine monophosphate cyclohydrolase genes with folate and homocysteine levels and venous thrombosis risk.胸苷酸合成酶、还原型叶酸载体及5-氨基咪唑-4-甲酰胺核糖核苷酸转甲酰酶/肌苷单磷酸环水解酶基因常见多态性与叶酸和同型半胱氨酸水平及静脉血栓形成风险的关联。
Clin Chem Lab Med. 2007;45(4):471-6. doi: 10.1515/CCLM.2007.091.
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Gene polymorphisms of folate metabolizing enzymes and the risk of gastric cancer.
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7
Reduced folate carrier gene G80A polymorphism is associated with an increased risk of gastroesophageal cancers in a Chinese population.还原型叶酸载体基因G80A多态性与中国人群食管癌和胃癌发病风险增加有关。
Eur J Cancer. 2006 Dec;42(18):3206-11. doi: 10.1016/j.ejca.2006.04.022. Epub 2006 Sep 8.
8
G80A reduced folate carrier SNP influences the absorption and cellular translocation of dietary folate and its association with blood pressure in an elderly population.G80A 还原型叶酸载体单核苷酸多态性影响膳食叶酸的吸收和细胞转运及其与老年人群血压的关联。
Life Sci. 2006 Aug 1;79(10):957-66. doi: 10.1016/j.lfs.2006.05.009. Epub 2006 May 17.
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Mediterranean diet and risk for Alzheimer's disease.地中海饮食与阿尔茨海默病风险
Ann Neurol. 2006 Jun;59(6):912-21. doi: 10.1002/ana.20854.
10
Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population.健康老年人群中叶酸代谢基因多态性与血清总同型半胱氨酸浓度之间的相互作用。
Am J Clin Nutr. 2006 Mar;83(3):708-13. doi: 10.1093/ajcn.83.3.708.

血清叶酸和 RFC A80G 多态性与阿尔茨海默病和血管性痴呆。

Serum folic acid and RFC A80G polymorphism in Alzheimer's disease and vascular dementia.

机构信息

1Department of Laboratory Medicine, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Am J Alzheimers Dis Other Demen. 2014 Feb;29(1):38-44. doi: 10.1177/1533317513505131.

DOI:10.1177/1533317513505131
PMID:24554143
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11008135/
Abstract

Low level of vitamin B12 and folic acid has been reported to play an important role in the pathogenesis of Alzheimer's disease (AD) and vascular dementia (VaD). Serum folic acid and vitamin B12 were assayed in 80 AD and 50 VaD cases and in 120 healthy controls. The reduced folate carrier (RFC1) gene, rs1051266, which encodes the RFC 1, protein was analyzed for polymorphism by polymerase chain reaction-restriction fragment length polymorphism. It was observed that the patients having folic acid <8.45 ng/mL had 2.4 (95% confidence interval [CI]: 1.4-4.5) times higher odds of having AD and 2.1 (95% CI: 1.1-4.2) times higher odds of having VaD than patients having folic acid ≥8.45 ng/mL. Serum vitamin B12 level did not show any such statistically significant effect in altering the odds. No direct association was found between variant (G) allele or genotype of rs1051266 with AD and VaD cases. On serum folate level no association was observed with gene polymorphism.

摘要

研究表明,维生素 B12 和叶酸水平较低在阿尔茨海默病(AD)和血管性痴呆(VaD)的发病机制中起着重要作用。测定了 80 例 AD 患者、50 例 VaD 患者和 120 名健康对照者的血清叶酸和维生素 B12。通过聚合酶链反应-限制性片段长度多态性分析了编码叶酸载体 1(RFC1)蛋白的还原叶酸载体 1(RFC1)基因 rs1051266 的多态性。结果发现,叶酸<8.45ng/mL 的患者患 AD 的几率是叶酸≥8.45ng/mL 的患者的 2.4 倍(95%可信区间[CI]:1.4-4.5),患 VaD 的几率是叶酸≥8.45ng/mL 的患者的 2.1 倍(95% CI:1.1-4.2)。血清维生素 B12 水平对改变几率没有任何统计学意义。rs1051266 的变异(G)等位基因或基因型与 AD 和 VaD 病例之间没有直接关联。在血清叶酸水平上,未观察到基因多态性与 AD 和 VaD 之间存在关联。