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Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.5,10-亚甲基四氢叶酸还原酶（MTHFR）677C>T等位基因的地理和种族差异：来自全球16个地区7000多名新生儿的研究结果。
J Med Genet. 2003 Aug;40(8):619-25. doi: 10.1136/jmg.40.8.619.
2
Heterozygote advantage of the MTHFR gene in patients with neural-tube defect and their relatives.神经管缺陷患者及其亲属中MTHFR基因的杂合子优势。
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The 677C > T mutation in 5,10-methylenetetrahydrofolate reductase and colorectal cancer risk.5,10-亚甲基四氢叶酸还原酶的677C>T突变与结直肠癌风险
Genet Test. 1999;3(2):233-6. doi: 10.1089/gte.1999.3.233.
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Response to "genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A".对“德克萨斯州不同种族人群中亚甲基四氢叶酸还原酶（MTHFR）和甲硫氨酸合酶还原酶（MTRR）的基因多态性；一个新的MTHFR多态性位点G1793A的报告”的回应
Am J Med Genet. 2002 Jun 15;110(2):191-2. doi: 10.1002/ajmg.10402.
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The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.对于人类亚甲基四氢叶酸还原酶而言，热不稳定变体677C→T与严重突变顺式表达时可进一步降低活性。
Hum Mutat. 2000;16(2):132-8. doi: 10.1002/1098-1004(200008)16:2<132::AID-HUMU5>3.0.CO;2-T.
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Genotype and allele frequencies of the polymorphic methylenetetrahydrofolate reductase gene in Turkey.土耳其亚甲基四氢叶酸还原酶基因多态性的基因型和等位基因频率
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Methylenetetrahydrofolate reductase (MTHFR). Incidence of the C677T mutation in a Siberian female population.亚甲基四氢叶酸还原酶（MTHFR）。西伯利亚女性人群中C677T突变的发生率。
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Detection of a new variant phenotype of phosphohexose isomerase in the Gadaba tribe of Andhra Pradesh, south India.印度南部安得拉邦加达巴部落中磷酸己糖异构酶新变异表型的检测。
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MTHFR C677T polymorphism among three Mendelian populations: a study from North India.三个孟德尔群体中的亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性：来自印度北部的一项研究。
Biochem Genet. 2012 Dec;50(11-12):893-7. doi: 10.1007/s10528-012-9529-x. Epub 2012 Aug 5.
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The MTHFR 677C --> T polymorphism and risk of prostate cancer: results from the CAPS study.亚甲基四氢叶酸还原酶（MTHFR）677C→T多态性与前列腺癌风险：CAPS研究结果
Cancer Causes Control. 2007 Dec;18(10):1169-74. doi: 10.1007/s10552-007-9055-z. Epub 2007 Sep 6.

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Preconceptional and Periconceptional Folic Acid Supplementation in the Visegrad Group Countries for the Prevention of Neural Tube Defects.维谢格拉德集团国家孕前和孕早期补充叶酸以预防神经管缺陷
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Gene Variant Related Neurological and Molecular Biomarkers Predict Psychosis Progression, with Potential for Monitoring and Prevention.基因变异相关的神经和分子生物标志物可预测精神病进展，具有监测和预防潜力。
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Associations of dietary riboflavin intake with coronary heart disease in US adults: a cross-sectional study of NHANES 2007-2018.美国成年人膳食核黄素摄入量与冠心病的关联：一项基于2007 - 2018年美国国家健康与营养检查调查（NHANES）的横断面研究
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Foods. 2024 Jul 17;13(14):2255. doi: 10.3390/foods13142255.
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Geographical distribution of MTHFR C677T gene polymorphisms among the reproductive-age women in Chinese Han populations: based on migration.中国汉族育龄妇女中 MTHFR C677T 基因多态性的地理分布：基于迁移。
BMC Womens Health. 2024 Jul 18;24(1):407. doi: 10.1186/s12905-024-03244-3.
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Exploring the Nexus: A Systematic Review on the Interplay of the Methylenetetrahydrofolate Reductase (MTHFR) Gene C677T Genotype, Hyperhomocysteinemia, and Spontaneous Cervical/Vertebral Artery Dissection in Young Adults.探索关联：关于亚甲基四氢叶酸还原酶（MTHFR）基因C677T基因型、高同型半胱氨酸血症与青年自发性颈/椎动脉夹层之间相互作用的系统评价
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Effect of plateletcrit and methylenetetrahydrofolate reductase (MTHFR) C677T genotypes on folic acid efficacy in stroke prevention.血小板比容和亚甲基四氢叶酸还原酶（MTHFR）C677T 基因型对预防中风的叶酸疗效的影响。
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Thrombophilia genetic mutations and their relation to disease severity among patients with COVID-19.COVID-19 患者血栓形成倾向的基因突变及其与疾病严重程度的关系。
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Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide.

作者信息

Wilcken B, Bamforth F, Li Z, Zhu H, Ritvanen A, Renlund M, Stoll C, Alembik Y, Dott B, Czeizel A E, Gelman-Kohan Z, Scarano G, Bianca S, Ettore G, Tenconi R, Bellato S, Scala I, Mutchinick O M, López M A, de Walle H, Hofstra R, Joutchenko L, Kavteladze L, Bermejo E, Martínez-Frías M L, Gallagher M, Erickson J D, Vollset S E, Mastroiacovo P, Andria G, Botto L D

出版信息

J Med Genet. 2003 Aug;40(8):619-25. doi: 10.1136/jmg.40.8.619.

DOI:10.1136/jmg.40.8.619
PMID:12920077
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1735571/
Abstract
摘要