Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG, Boers GJ, den Heijer M, Kluijtmans LA, van den Heuvel LP: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. NatGenet. 1995, 10 (1): 111-113.
CAS
Google Scholar
Schneider JA, Rees DC, Liu YT, Clegg JB: Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. AmJHumGenet. 1998, 62 (5): 1258-1260.
CAS
Google Scholar
Gueant-Rodriguez RM, Gueant JL, Debard R, Thirion S, Hong LX, Bronowicki JP, Namour F, Chabi NW, Sanni A, Anello G, et al: Prevalence of methylenetetrahydrofolate reductase 677T and 1298C alleles and folate status: a comparative study in Mexican, West African, and European populations. Am J Clin Nutr. 2006, 83 (3): 701-707.
PubMed
CAS
Google Scholar
Ma J, Stampfer MJ, Christensen B, Giovannucci E, Hunter DJ, Chen J, Willett WC, Selhub J, Hennekens CH, Gravel R, et al: A polymorphism of the methionine synthase gene: association with plasma folate, vitamin B12, homocyst(e)ine, and colorectal cancer risk. Cancer EpidemiolBiomarkers Prev. 1999, 8 (9): 825-829.
CAS
Google Scholar
Jacques PF, Bostom AG, Williams RR, Ellison RC, Eckfeldt JH, Rosenberg IH, Selhub J, Rozen R: Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation. 1996, 93 (1): 7-9.
Article
PubMed
CAS
Google Scholar
Fodinger M, Horl WH, Sunder-Plassmann G: Molecular biology of 5,10-methylenetetrahydrofolate reductase. JNephrol. 2000, 13 (1): 20-33.
CAS
Google Scholar
Klerk M, Verhoef P, Clarke R, Blom HJ, Kok FJ, Schouten EG: MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis. Jama. 2002, 288 (16): 2023-2031. 10.1001/jama.288.16.2023.
Article
PubMed
CAS
Google Scholar
Sohn KJ, Jang H, Campan M, Weisenberger DJ, Dickhout J, Wang YC, Cho RC, Yates Z, Lucock M, Chiang EP, et al: The methylenetetrahydrofolate reductase C677T mutation induces cell-specific changes in genomic DNA methylation and uracil misincorporation: a possible molecular basis for the site-specific cancer risk modification. Int J Cancer. 2009, 124 (9): 1999-2005. 10.1002/ijc.24003.
Article
PubMed
CAS
PubMed Central
Google Scholar
Linnebank M, Homberger A, Nowak-Gottl U, Koch HG: A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls. HumMutat. 2002, 20 (6): 478-
CAS
Google Scholar
Ogino S, Wilson RB: Genotype and haplotype distributions of MTHFR677C>T and 1298A>C single nucleotide polymorphisms: a meta-analysis. J Hum Genet. 2003, 48 (1): 1-7. 10.1007/s100380300000.
Article
PubMed
CAS
Google Scholar
van der Put NM, Gabreels F, Stevens EM, Smeitink JA, Trijbels FJ, Eskes TK, van den Heuvel LP, Blom HJ: A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?. AmJHumGenet. 1998, 62 (5): 1044-1051.
CAS
Google Scholar
Linnebank M, Linnebank A, Jeub M, Klockgether T, Wullner U, Kolsch H, Heun R, Koch HG, Suormala T, Fowler B: Lack of genetic dispositions to hyperhomocysteinemia in Alzheimer disease. AmJMedGenetA. 2004, 131 (1): 101-102.
Google Scholar
Weisberg I, Tran P, Christensen B, Sibani S, Rozen R: A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. MolGenetMetab. 1998, 64 (3): 169-172.
CAS
Google Scholar
Wullner U, Kolsch H, Linnebank M: Methylenetetrahydrofolate reductase in Parkinson's disease. AnnNeurol. 2005, 58 (6): 972-973.
Google Scholar
Skibola CF, Smith MT, Kane E, Roman E, Rollinson S, Cartwright RA, Morgan G: Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults. ProcNatlAcadSciUSA. 1999, 96 (22): 12810-12815.
Article
CAS
Google Scholar
Matsuo K, Hamajima N, Suzuki R, Ogura M, Kagami Y, Taji H, Yasue T, Mueller NE, Nakamura S, Seto M, et al: Methylenetetrahydrofolate reductase gene (MTHFR) polymorphisms and reduced risk of malignant lymphoma. AmJHematol. 2004, 77 (4): 351-357.
CAS
Google Scholar
Keku T, Millikan R, Worley K, Winkel S, Eaton A, Biscocho L, Martin C, Sandler R: 5,10-Methylenetetrahydrofolate reductase codon 677 and 1298 polymorphisms and colon cancer in African Americans and whites. Cancer EpidemiolBiomarkers Prev. 2002, 11 (12): 1611-1621.
CAS
Google Scholar
Wang J, Gajalakshmi V, Jiang J, Kuriki K, Suzuki S, Nagaya T, Nakamura S, Akasaka S, Ishikawa H, Tokudome S: Associations between 5,10-methylenetetrahydrofolate reductase codon 677 and 1298 genetic polymorphisms and environmental factors with reference to susceptibility to colorectal cancer: a case-control study in an Indian population. IntJCancer. 2006, 118 (4): 991-997.
CAS
Google Scholar
Moskau S, Golla A, Grothe C, Boes M, Pohl C, Klockgether T: Heritability of carotid artery atherosclerotic lesions: an ultrasound study in 154 families. Stroke. 2005, 36 (1): 5-8. 10.1161/01.STR.0000149936.33498.83.
Article
PubMed
Google Scholar
Linnebank M, Fliessbach K, Kolsch H, Rietschel M, Wullner U: The methionine synthase polymorphism c.2756Aright curved arrow G (D919G) is relevant for disease-free longevity. IntJMolMed. 2005, 16 (4): 759-761.
CAS
Google Scholar
Rosenberg N, Murata M, Ikeda Y, Opare-Sem O, Zivelin A, Geffen E, Seligsohn U: The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans. AmJHumGenet. 2002, 70 (3): 758-762.
CAS
Google Scholar
Linnebank M, Homberger A, Koch HG, Bova I, Sylantiev C, Bornstein NM, Chapman J, Korczyn AD: Frequent polymorphism of the human methylenetetrahydrofolate reductase. Stroke. 2000, 31 (4): 990-
Article
PubMed
CAS
Google Scholar
Rannala B, Reeve JP: Joint Bayesian estimation of mutation location and age using linkage disequilibrium. Pac Symp Biocomput. 2003, 526-534.
Google Scholar
Pritchard JK, Seielstad MT, Perez-Lezaun A, Feldman MW: Population growth of human Y chromosomes: a study of Y chromosome microsatellites. Mol Biol Evol. 1999, 16 (12): 1791-1798.
Article
PubMed
CAS
Google Scholar
Klotz L, Farkas M, Bain N, Keskitalo S, Semmler A, Ineichen B, Jelcic J, Klockgether T, Kolsch H, Weller M, et al: The variant methylenetetrahydrofolate reductase c.1298A>C (p.E429A) is associated with multiple sclerosis in a German case-control study. Neurosci Lett. 2009
Google Scholar
Semmler A, Linnebank M, Krex D, Gotz A, Moskau S, Ziegler A, Simon M: Polymorphisms of Homocysteine Metabolism Are Associated with Intracranial Aneurysms. Cerebrovasc Dis. 2008, 26 (4): 425-429. 10.1159/000155638.
Article
PubMed
CAS
Google Scholar
Bailey SE, Weaver TD, Hublin JJ: Who made the Aurignacian and other early Upper Paleolithic industries?. J Hum Evol. 2009, 57 (1): 11-26. 10.1016/j.jhevol.2009.02.003.
Article
PubMed
Google Scholar
Mellars PA: Archaeology and the population-dispersal hypothesis of modern human origins in Europe. Philos Trans R Soc Lond B Biol Sci. 1992, 337 (1280): 225-234. 10.1098/rstb.1992.0100.
Article
PubMed
CAS
Google Scholar
Xu WH, Shrubsole MJ, Xiang YB, Cai Q, Zhao GM, Ruan ZX, Cheng JR, Zheng W, Shu XO: Dietary folate intake, MTHFR genetic polymorphisms, and the risk of endometrial cancer among Chinese women. Cancer Epidemiol Biomarkers Prev. 2007, 16 (2): 281-287. 10.1158/1055-9965.EPI-06-0798.
Article
PubMed
CAS
Google Scholar
Haggarty P, McCallum H, McBain H, Andrews K, Duthie S, McNeill G, Templeton A, Haites N, Campbell D, Bhattacharya S: Effect of B vitamins and genetics on success of in-vitro fertilisation: prospective cohort study. Lancet. 2006, 367 (9521): 1513-1519. 10.1016/S0140-6736(06)68651-0.
Article
PubMed
CAS
Google Scholar
Rai AK, Singh S, Mehta S, Kumar A, Pandey LK, Raman R: MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. JHumGenet. 2006, 51 (4): 278-283.
CAS
Google Scholar
Markan S, Sachdeva M, Sehrawat BS, Kumari S, Jain S, Khullar M: MTHFR 677 CT/MTHFR 1298 CC genotypes are associated with increased risk of hypertension in Indians. Mol Cell Biochem. 2007
Google Scholar
da Costa Ramos FJ, Cartaxo Muniz MT, Silva VC, Araujo M, Leite EP, Freitas EM, Zanrosso CW, Hatagima A, de Mello MP, Yunes JA, et al: Association between the MTHFR A1298C polymorphism and increased risk of acute myeloid leukemia in Brazilian children. Leuk Lymphoma. 2006, 47 (10): 2070-2075. 10.1080/10428190600800132.
Article
PubMed
Google Scholar
Houillier C, Lejeune J, Benouaich-Amiel A, Laigle-Donadey F, Criniere E, Mokhtari K, Thillet J, Delattre JY, Hoang-Xuan K, Sanson M: Prognostic impact of molecular markers in a series of 220 primary glioblastomas. Cancer. 2006, 106 (10): 2218-2223. 10.1002/cncr.21819.
Article
PubMed
CAS
Google Scholar
Linnebank M, Homberger A, Nowak-Gottl U, Marquardt T, Harms E, Koch HG: Linkage disequilibrium of the common mutations 677C>T and 1298A>C of the human methylenetetrahydrofolate reductase gene as proven by the novel polymorphisms 129C>T, 1068C>T. EurJPediatr. 2000, 159 (6): 472-473.
CAS
Google Scholar
Stegmann K, Ziegler A, Ngo ET, Kohlschmidt N, Schroter B, Ermert A, Koch MC: Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD). AmJMedGenet. 1999, 87 (1): 23-29.
CAS
Google Scholar