This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.
1. M Klerk , P Verhoef , R Clarke (2002) MTHFR 677C→T polymorphism and risk of coronary heart disease – a meta-analysis. JAMA 288, 2023–2031.
2. MV Holmes , P Newcombe , JA Hubacek (2011) Effect modification by population dietary folate on the association between MTHFR genotype, homocysteine, and stroke risk: a meta-analysis of genetic studies and randomised trials. Lancet 378, 584–594.
3. C Newton-Cheh , T Johnson , V Gateva (2009) Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet 41, 666–676.
4. A Czeizel & I Dudas (1992) Prevention of the 1st occurrence of neural-tube defects by periconceptional vitamin supplementation. N Engl J Med 327, 1832–1835.
5.MRC Vitamin Study Research Group (1991) Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. Lancet 338, 131–137.
6. LM Bodnar , G Tang , RB Ness (2006) Periconceptional multivitamin use reduces the risk of preeclampsia. Am J Epidemiol 164, 470–477.
7. S Hernandez-Diaz , MM Werler , C Louik (2002) Risk of gestational hypertension in relation to folic acid supplementation during pregnancy. Am J Epidemiol 156, 806–812.
8. WQ Niu , YG You & Y Qi (2012) Strong association of methylenetetrahydrofolate reductase gene C677T polymorphism with hypertension and hypertension-in-pregnancy in Chinese: a meta-analysis. J Hum Hypertens 26, 259–267.
9. LD Botto & QH Yang (2000) 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol 151, 862–877.
10. P Frosst , HJ Blom , R Milos (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10, 111–113.
12. K Yamada , Z Chen , R Rozen (2001) Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase. Proc Natl Acad Sci USA 98, 14853–14858.
13. AM Molloy , S Daly , JL Mills (1997) Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations. Lancet 349, 1591–1593.
14. PF Jacques , AG Bostom , RR Williams (1996) Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 93, 7–9.
15. L Brattstrom , DEL Wilcken , J Ohrvik (1998) Common methylenetetrahydrofolate reductase gene mutation leads to hyperhomocysteinemia but not to vascular disease – the result of a meta-analysis. Circulation 98, 2520–2526.
17. H McNulty , LRC Dowey , JJ Strain (2006) Riboflavin lowers homocysteine in individuals homozygous for the MTHFR 677C→T polymorphism. Circulation 113, 74–80.
20. SJ Lewis , S Ebrahim & GD Smith (2005) Meta-analysis of MTHFR 677C→T polymorphism and coronary heart disease: does totality of evidence support causal role for homocysteine and preventive potential of folate? Br Med J 331, 1053–1056.
21. DS Wald , M Law & JK Morris (2002) Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis. Br Med J 325, 1202.
22. JP Casas , LE Bautista , L Smeeth (2005) Homocysteine and stroke: evidence on a causal link from Mendelian randomisation. Lancet 365, 224–232.
23. DS Wald , JK Morris & NJ Wald (2011) Reconciling the evidence on serum homocysteine and ischaemic heart disease: a meta-analysis. Plos ONE 6, e16473.
24. R Clarke , DA Bennett , S Parish (2012) Homocysteine and coronary heart disease: meta-analysis of MTHFR case-control studies, avoiding publication bias. Plos Med 9, e1001177.
25. GPA Kauwell , ML Diaz , Q Yang (2009) Folate: recommended intakes, consumption, and status. In Folate in Health and Disease, 2nd ed., pp. 467–490 [ LB Bailey , editor]. Boca Raton, FL: Taylor & Francis.
26. Q Yang , L Bailey , R Clarke (2012) Prospective study of methylenetetrahydrofolate reductase (MTHFR) variant C677T and risk of all-cause and cardiovascular disease mortality among 6000 US adults. Am J Clin Nutr 95, 1245–1253.
27. WY Wang , ET Lee , RR Fabsitz (2006) A longitudinal study of hypertension risk factors and their relation to cardiovascular disease – The Strong Heart Study. Hypertension 47, 403–409.
29. JG Mongeau (1987) Heredity and blood-pressure in humans – an overview. Pediatr Nephrol 1, 69–75.
30. D Levy , AL DeStefano , MG Larson (2000) Evidence for a gene influencing blood pressure on chromosome 17 – genome scan linkage results for longitudinal blood pressure phenotypes in subjects from the Framingham Heart Study. Hypertension 36, 477–483.
31. GB Ehret , PB Munroe , KM Rice (2011) Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature 478, 103–109.
32. C Liu , H Li , Q Qi (2011) Common variants in or near FGF5, CYP17A1 and MTHFR genes are associated with blood pressure and hypertension in Chinese Hans. J Hypertens 29, 70–75.
33. M Tomaszewski , R Debiec , PS Braund (2010) Genetic architecture of ambulatory blood pressure in the general population insights from cardiovascular gene-centric array. Hypertension 56, 1069-U146.
34. F Takeuchi , M Isono , T Katsuya (2010) Blood pressure and hypertension are associated with 7 Loci in the Japanese population. Circulation 121, 2302-U140.
35. S Heux , F Morin , RA Lea (2004) The methylentetrahydrofolate reductase gene variant (C677T) as a risk factor for essential hypertension in Caucasians. Hypertens Res 27, 663–667.
36. A Poduri , S Kumari , S Jain (2009) A case-control study of the association between the MTHFR gene and essential hypertension in Asian Indians. J Hum Hypertens 23, 140–142.
37. N Inamoto , T Katsuya , Y Kokubo (2003) Association of methylenetetrahydrofolate reductase gene polymorphism with carotid atherosclerosis depending on smoking status in a Japanese general population. Stroke 34, 1628–1633.
38. X Qian , Z Lu , M Tan (2007) A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension. Eur J Hum Genet 15, 1239–1245.
39. N Koubaa , A Nakbi , A Smaoui (2007) Hyperhomocysteinemia and elevated ox-LDL in Tunisian type 2 diabetic patients: role of genetic and dietary factors. Clin Biochem 40, 1007–1014.
40. P Benes , K Kankova , J Muzik (2001) Methylenetetrahydrofolate reductase polymorphism, type II diabetes mellitus, coronary artery disease, and essential hypertension in the Czech population. Mol Genet Metab 73, 188–195.
42. SQ Jiang , YH Hsu , X Xu (2004) The C677T polymorphism of the methylenetetrahydrofolate reductase gene is associated with the level of decrease on diastolic blood pressure in essential hypertension patients treated by angiotensin-converting enzyme inhibitor. Thromb Res 113, 361–369.
43. S Jiang , Y Yu , SA Venners (2011) Effects of MTHFR and MS gene polymorphisms on baseline blood pressure and Benazepril effectiveness in Chinese hypertensive patients. J Hum Hypertens 25, 172–177.
44. H Xu , H Zheng , Y Shen (2012) Polymorphism of the methylenetetrahydrofolate reductase gene C677T and its influence on the antihypertensive and vascular protective effects of short-term lercanidipine treatment. Gene 500, 207–210.
46. S Markan , M Sachdeva , BS Sehrawat (2007) MTHFR 677 CT/MTHFR 1298 CC genotypes are associated with increased risk of hypertension in Indians. Mol Cell Biochem 302, 125–131.
47. CP Wilson , H McNulty , JM Scott (2010) The MTHFR C677T polymorphism, B-vitamins and blood pressure. Proc Nutr Soc 69, 156–165.
48. H McNulty , JJ Strain , K Pentieva (2012) Vitamins, infectious and chronic disease during adulthood and aging C1metabolism and CVD outcomes in older adults. Proc Nutr Soc 71, 213–221.
49. G Horigan , H McNulty , M Ward (2010) Riboflavin lowers blood pressure in cardiovascular disease patients homozygous for the 677C→T polymorphism in MTHFR. J Hypertens 28, 478–486.
50. CP Wilson , M Ward , H McNulty (2012) Riboflavin offers a targeted strategy for managing hypertension in patients with the MTHFR 677TT genotype: a 4-y follow-up. Am J Clin Nutr 95, 766–772.
51. CP Wilson , H McNulty , M Ward (2013) Blood pressure in treated hypertensive individuals with the MTHFR 677TT genotype is responsive to intervention with riboflavin: findings of a targeted randomized trial. Hypertension 61, 1302–1308.
52. C Antoniades , C Shirodaria , P Leeson (2009) MTHFR 677 C→T polymorphism reveals functional importance for 5-methyltetrahydrofolate, not homocysteine, in regulation of vascular redox state and endothelial function in human atherosclerosis. Circulation 119, 2507–2515.
53. L Daly , P Kirke , A Molloy (1995) Folate levels and neural-tube defects – implications for prevention. JAMA 274, 1698–1702.
54. S Daly , JL Mills , AM Molloy (1997) Minimum effective dose of folic acid for food fortification to prevent neural-tube defects. Lancet 350, 1666–1669.
57. B McNulty , K Pentieva , B Marshall (2011) Women's compliance with current folic acid recommendations and achievement of optimal vitamin status for preventing neural tube defects. Hum Reprod 26, 1530–1536.
58. LD Botto , A Lisi , E Robert-Gnansia (2005) International retrospective cohort study of neural tube defects in relation to folic acid recommendations: are the recommendations working? Br Med J 330, 571–573.
60. MA Honein , LJ Paulozzi , TJ Mathews (2001) Impact of folic acid fortification of the US food supply on the occurrence of neural tube defects. JAMA 285, 2981–2986.
61. P De Wals , F Tairou , MI Van Allen (2007) Reduction in neural-tube defects after folic acid fortification in Canada. N Engl J Med 357, 135–142.
62. H Blencowe , S Cousens , B Modell (2010) Folic acid to reduce neonatal mortality from neural tube disorders. Int J Epidemiol 39, 110–121.
64. R Castro , I Rivera , P Ravasco (2004) 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C→T and 1298A→C mutations are associated with DNA hypomethylation. J Med Genet 41, 454–458.
65. NMJ van der Put , RPM Steegers Theunissen , P Frosst (1995) Mutated methylenetetrahydrofolate reductase as a risk factor for spina-bifida. Lancet 346, 1070–1071.
66. HJ Blom , GM Shaw , M den Heijer (2006) Neural tube defects and folate: case far from closed. Nat Rev Neurosci 7, 724–731.
68. NMJ van der Put , LP van den Heuvel , RPM Steegers Theunissen (1996) Decreased methylene tetrahydrofolate reductase activity due to the 677C→T mutation in families with spina bifida offspring. J Mol Med 74, 691–694.
69. NMJ van der Put , TKAB Eskes & HJ Blom (1997) Is the common 677C→T mutation in the methylenetetrahydrofolate reductase gene a risk factor for neural tube defects? A meta-analysis. QJM Mon J Assoc Physicians 90, 111–115.
72. DC Shields , PN Kirke , JL Mills (1999) The “thermolabile” variant of methylenetetrahydrofolate reductase and neural tube defects: an evaluation of genetic risk and the relative importance of the genotypes of the embryo and the mother. Am J Hum Genet 64, 1045–1055.
73. GM Shaw , R Rozen , RH Finnell (1998) Maternal vitamin use, genetic variation of infant methylenetetrahydrofolate reductase, and risk for spina bifida. Am J Epidemiol 148, 30–37.
74. LE Martinez de Villarreal , I Delgado-Enciso , R Valdez-Leal (2001) Folate levels and N(5),N(10)-methylenetetrahydrofolate reductase genotype (MTHFR) in mothers of offspring with neural tube defects: a case-control study. Arch Med Res 32, 277–282.
75. KA Volcik , SH Blanton , GH Tyerman (2000) Methylenetetrahydrofolate reductase and spina bifida: evaluation of level of defect and maternal genotypic risk in Hispanics. Am J Med Genet 95, 21–27.
76. B Christensen , L Arbour , P Tran (1999) Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 84, 151–157.
78. KS Crider , J Zhu , L Hao (2011) MTHFR 677C→T genotype is associated with folate and homocysteine concentrations in a large, population-based, double-blind trial of folic acid supplementation. Am J Clin Nutr 93, 1365–1372.
79. E Also-Rallo , E Lopez-Quesada , R Urreizti (2005) Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies. Eur J Obstet Gynecol Reprod Biol 120, 45–52.
80. P Saudan , MA Brown , ML Buddle (1998) Does gestational hypertension become pre-eclampsia? Br J Obstet Gynaecol 105, 1177–1184.
81. BM Hibbard (1964) The role of folic acid in pregnancy; with particular reference to anaemia, abruption and abortion. J Obstet Gynaecol Br Commonw 71, 529–542.
82. BM Hibbard , ED Hibbard & TN Jeffcoate (1965) Folic acid and reproduction. Acta Obstet Gynecol Scand 44, 375–400.
84. ML Stone (1968) Effects on the fetus of folic acid deficiency in pregnancy. Clin Obstet Gynecol 11, 1143–1153.
85. JG Ray & MM Mamdani (2002) Association between folic acid food fortification and hypertension or preeclampsia in pregnancy. Arch Intern Med 162, 1776–1777.
86. S Hernandez-Diaz , XF Wu , C Hayes (2005) Methylenetetrahydrofolate reductase polymorphisms and the risk of gestational hypertension. Epidemiology 16, 628–634.
87. S Sohda , T Arinami , H Hamada (1997) Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. J Med Genet 34, 525–526.
89. B Wilcken , F Bamforth , Z Li (2003) Geographical and ethnic variation of the 677C→T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas worldwide. J Med Genet 40, 619–625.
90. J Villar , L Say , A Shennan (2004) Methodological and technical issues related to the diagnosis, screening, prevention, and treatment of pre-eclampsia and eclampsia. Int J Gynaecol Obstet 85, S28–S41.
91. J Perez-Mutul , L Gonzalez-Herrera , T Sosa-Cabrera (2004) A mutation in the 5,10-methylenetetrahydrofolate reductase gene is not associated with preeclampsia in women of southeast Mexico. Arch Med Res 35, 231–234.
92. IP Davalos , MC Moran , E Martinez-Abundis (2005) Methylenetetrahydrofolate reductase C677T polymorphism and factor V Leiden variant in Mexican women with preeclampsia/eclampsia. Blood Cells Mol Dis 35, 66–69.
93. MJ Canto , M Buixeda , J Palau (2007) Early ultrasonographic diagnosis of diastrophic dysplasia at 12 weeks of gestation in a fetus without previous family history. Prenat Diagn 27, 976–978.
94. IP Kosmas , A Tatsioni & JPA Ioannidis (2004) Association of C677T polymorphism in the methylenetetrahydrofolate reductase gene with hypertension in pregnancy and pre-eclampsia: a meta-analysis. J Hypertens 22, 1655–1662.
95. X Xia , W Chang & Y Cao (2012) Meta-analysis of the methylenetetrahydrofolate reductase C677T polymorphism and susceptibility to pre-eclampsia. Hypertens Res 35, 1129–1134.
96. MJ Kupferminc (2005) Thrombophilia and pregnancy. Curr Pharm Des 11, 733–746.
97. RW Powers , LA Minich , DL Lykins (1999) Methylenetetrahydrofolate reductase polymorphism, folate, and susceptibility to preeclampsia. J Soc Gynecol Invest 6, 74–79.
98. G Kobashi , H Yamada , T Asano (2000) Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and preeclampsia in Japanese women. Am J Med Genet 93, 122–125.
99. H Laivuori , R Kaaja , O Ylikorkala (2000) 677 C→T polymorphism of the methylenetetrahydrofolate reductase gene and preeclampsia. Obstet Gynecol 96, 277–280.
100. J Rigo , B Nagy , L Fintor (2000) Maternal and neonatal outcome of preeclamptic pregnancies: the potential roles of Factor V Leiden mutation and 5,10 methylenetetrahydrofolate reductase. Hypertens Pregnancy 19, 163–172.
102. D Prasmusinto , S Skrablin , C Hofstaetter (2002) The methylenetetrahydrofolate reductase 677 C→T polymorphism and preeclampsia in two populations. Obstet Gynecol 99, 1085–1092.
103. RJ Pegoraro , A Chikosi , L Rom (2004) Methylenetetrahydrofolate reductase gene polymorphisms in black South Africans and the association with preeclampsia. Acta Obstet Gynecol Scand 83, 449–454.
104. MA Williams , SE Sanchez , C Zhang (2004) Methylenetetrahydrofolate reductase 677C→T polymorphism and plasma folate in relation to pre-eclampsia risk among Peruvian women. J Matern Fetal Neonatal Med 15, 337–44.
105. H Yilmaz , Y Unlucerci , F Gurdol (2004) Association of pre-eclampsia with hyperhomocysteinaemia and methylenetetrahydrofolate reductase gene C677T polymorphism in a Turkish population. Aust N Z J Obstet Gynaecol 44, 423–427.
106. P Stiefel , M Luisa Miranda , LM Bellido (2009) Genotype of the CYBA promoter-930A/G, polymorphism C677T of the MTHFR and APOE genotype in patients with hypertensive disorders of pregnancy: an observational study. Med Clin 133, 657–661.