1 | MTHFR, MTR
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| Hearing impairment risk and interaction of folate metabolism related gene polymorphisms in an aging study.
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| Uchida Y, Sugiura S, Ando F, Nakashima T, Shimokata H.
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| BMC Med Genet 12:35. doi: 10.1186/1471-2350-12-35.
2011
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2 | ATP2B1, CACNB2, CASZ1, CNNM2, CSK, CYP17A1, EFCAB1, FGF5, ITGA9, MTHFR, PLEKHA7, ULK3
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| Blood pressure and hypertension are associated with 7 loci in the Japanese population.
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| Takeuchi F, Isono M, Katsuya T, Yamamoto K, Yokota M, Sugiyama T, Nabika T, Fujioka A, Ohnaka K, Asano H, Yamori Y, Yamaguchi S, Kobayashi S, Takayanagi R, Ogihara T, Kato N.
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| Circulation 121(21):2302-9. Epub 2010 May 17. 2010
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3 | MTHFR
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| MTHFR and risk of metabolic syndrome in patients with schizophrenia.
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| van Winkel R, Rutten BP, Peerbooms O, Peuskens J, van Os J, De Hert M.
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| Schizophr Res 121(1-3):193-198. Epub 2010 Jun 12.
2010
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4 | MSX1, MTHFR
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| MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate.
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| Jagomägi T, Nikopensius T, Krjutskov K, Tammekivi V, Viltrop T, Saag M, Metspalu A.
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| Eur J Oral Sci 118(3):213-20.
2010
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5 | MTHFR, TRI21
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| Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects.
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| Brandalize AP, Bandinelli E, Dos Santos PA, Roisenberg I, Schüler-Faccini L.
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| Am J Med Genet A 149A(10):2080-2087. [Epub ahead of print]
2009
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6 | MTHFR, MTR
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| DNA promoter methylation in breast tumors: no association with genetic polymorphisms in MTHFR and MTR.
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| Tao MH, Shields PG, Nie J, Marian C, Ambrosone CB, McCann SE, Platek M, Krishnan SS, Xie B, Edge SB, Winston J, Vito D, Trevisan M, Freudenheim JL.
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| Cancer Epidemiol Biomarkers Prev 18(3):998-1002. doi: 10.1158/1055-9965.EPI-08-0916. Epub 2009 Feb 24.
2009
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7 | MTHFR, TRI21
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| The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome.
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| Martinez-Frias ML.
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| Am J Med Genet A 146A(11):1477-82. Review. 2008
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8 | APOE, COMT, DAO, DRD1, DRD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SCZD23, SLC6A4, TP53, TPH1
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| Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database.
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| Allen NC, Bagade S, McQueen MB, Ioannidis JP, Kavvoura FK, Khoury MJ, Tanzi RE, Bertram L.
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| Nat Genet 40(7):827-34. 2008
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9 | CETP, LPL, MTHFR, NOS3, OLR1, PAPPA, SERPINE1
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| Candidate gene polymorphisms and the 9p21 locus in acute coronary syndromes.
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| Tousoulis D, Briasoulis A, Papageorgiou N, Antoniades C, Stefanadis C.
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| Trends Mol Med rends Mol Med. 2008 Sep 9. [Epub ahead of print]
2008
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10 | CBS, MTHFR, MTRR
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| Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children.
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| Aléssio AC, Siqueira LH, Bydlowski SP, Höehr NF, Annichino-Bizzacchi JM.
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| Am J Med Genet A 146A(20):2598-602. 2008
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11 | F2, MTHFR
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| Molecular analysis of factor V Leiden, factor V Hong Kong, factor II G20210A, methylenetetrahydrofolate reductase C677T, and A1298C mutations related to Turkish thrombosis patients.
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| Dšlek B, Eraslan S, EroÀlu S, Kesim BE, Ulutin T, Yaliner A, Laleli YR, GšzŸkirmizi N.
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| Clin Appl Thromb Hemost 13(4):435-8. 2007
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12 | MTHFR
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| Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy: a meta-analysis.
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| Zintzaras E, Uhlig K, Koukoulis GN, Papathanasiou AA, Stefanidis I.
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| J Hum Genet 52(11):881-90. Epub 2007 Sep 6. 2007
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13 | ACE, APOE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM, TNF
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| Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
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| Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE.
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| Nat Genet 39(1):17-23. 2007
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14 | MTHFR, TYMS
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| Genetic polymorphisms in the methylenetetrahydrofolate reductase and thymidylate synthase genes and risk of hepatocellular carcinoma.
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| Yuan JM, Lu SC, Van Den Berg D, Govindarajan S, Zhang ZQ, Mato JM, Yu MC.
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| Hepatology 46(3):749-58.
2007
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15 | MTHFR, MTHFD1, NAP1L2, SLC19A1, TFAP2A
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| Candidate gene analysis in human neural tube defects.
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| Boyles AL, Hammock P, Speer MC.
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| Am J Med Genet C Semin Med Genet 135(1):9-23. 2005
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16 | MTHFR, MTRR, SHMT2, SLC19A1
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| Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population.
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| Relton CL, Wilding CS, Pearce MS, Laffling AJ, Jonas PA, Lynch SA, Tawn EJ, Burn J.
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| J Med Genet 41(4):256-60. 2004
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17 | MTHFR
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| Methylenetetrahydrofolate reductase gene C677T polymorphism, homocysteine, vitamin B12, and DNA damage in coronary artery disease
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| Andreassi MG, Botto N, Cocci F, Battaglia D, Antonioli E, Masetti S, Manfredi S, Colombo MG, Biagini A, Clerico A.
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| Hum Genet 112(2):171-7. 2003
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18 | MTHFR
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| Comment on 'increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos'.
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| Isotalo PA, Donnelly JG.
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| Eur J Hum Genet 10(10):578-9; discussion 579-82. No abstract available. 2002
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19 | MTHFR
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| Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase.
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| Yamada K, Chen Z, Rozen R, Matthews RG.
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| Proc Natl Acad Sci U S A 98(26):14853-8. 2001
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20 | MTHFR
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| Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.
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| Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R.
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| Hum Mutat 15(3):280-7. 2000
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21 | MTHFR
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| Methylenetetrahydrofolate reductase deficiency in four siblings: a clinical, biochemical, and molecular study of the family.
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| Tonetti C, Burtscher A, Bories D, Tulliez M, Zittoun J.
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| Am J Med Genet 91(5):363-7. 2000
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22 | MTHFR
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| Genomic structure and transcript variants of the human methylenetetrahydrofolate reductase gene.
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| Homberger A, Linnebank M, Winter C, Willenbring H, Marquardt T, Harms E, Koch HG.
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| Eur J Hum Genet 8(9):725-9. 2000
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23 | MTHFR
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| Neonatal and fetal methylenetetrahydrofolate reductase genetic polymorphisms: an examination of C677T and A1298C mutations.
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| Isotalo PA, Wells GA, Donnelly JG.
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| Am J Hum Genet 67(4):986-90. 2000
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24 | CLCN6, MTHFR
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| The human and mouse methylenetetrahydrofolate reductase (MTHFR) genes: genomic organization, mRNA structure and linkage to the CLCN6 gene.
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| Gaughan DJ, Barbaux S, Kluijtmans LA, Whitehead AS.
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| Gene 257(2):279-89. 2000
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25 | MTHFR, MTR
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| Comorbidity of 5,10-methylenetetrahydrofolate reductase and methionine synthase gene polymorphisms and risk for neural tube defects.
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| Johanning GL, Tamura T, Johnston KE, Wenstrom KD.
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| J Med Genet 37(12):949-51. No abstract available. 2000
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26 | MTHFR
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| Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene.
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| Heijmans BT, et al.
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| Eur J Hum Genet 7(2):197-204. 1999
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27 | MTHFR, NTDS1
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| 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.
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| Shields DC, et al.
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| Am J Hum Genet 64(4):1045-1055. 1999
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28 | NTDS1, MTHFR
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| Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.
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| Christensen B, et al.
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| Am J Med Genet 84(2):151-7. 1999
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29 | MTHFR
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| Polymorphism of the methionine synthase gene : association with homocysteine metabolism and late-onset vascular diseases in the Japanese population.
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| Morita H, et al.
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| Arterioscler Thromb Vasc Biol 19(2):298-302. 1999
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30 | CBS, MTHFR
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| Possible interaction of genotypes at cystathionine beta-synthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube defects. NTD Collaborative Group.
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| Speer MC, et al.
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| Clin Genet 56(2):142-4 1999
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31 | MTHFR
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| Polymorphisms in the methylenetetrahydrofolate reductase gene are associated with susceptibility to acute leukemia in adults.
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| Skibola CF, et al.
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| Proc Natl Acad Sci U S A 96(22):12810-5 1999
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32 | MTHFR
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| The silent T1317C mutation of methylenetetrahydrofolate reductase should not interfere with MboII restriction isotyping of the reported A1298C mutation.
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| Donnelly JG.
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| Mol Genet Metab 68(4):511. No abstract available 1999
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33 | MTHFR, NTDS1
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| High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in mexico: A country with a very high prevalence of neural tube defects.
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| Mutchinick OM, Lopez MA, Luna L, Waxman J, Babinsky VE.
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| Mol Genet Metab 68(4):461-7 1999
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34 | CBS, F5TPH, MTHFR
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| Homozygous cystathionine beta-synthase deficiency, combined with factor V Leiden or thermolabile methylenetetrahydrofolate reductase in the risk of venous thrombosis.
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| Kluijtmans LAJ, et al.
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| Blood 91 : 2015-2018. 1998
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35 | MTHFR, NTDS1
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| A second common mutation in the methylenetetrahydrofolate reductase gene : an additional risk factor for neural-tube defects?
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| van der Put NMJ, et al.
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| Am J Hum Genet 62 : 1044-1051. 1998
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36 | MTHFR
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| Worldwide distribution of a common methylenetetrahydrofolate reductase mutation.
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| Schneider JA, et al.
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| Am J Hum Genet 62 : 1258-1260. 1998
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37 | MTHFR
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| Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
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| Arn PH, et al.
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| Am J Med Genet 77 : 198-200. 1998
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38 | MTHFR
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| Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency.
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| Kluijtmans LAJ, et al.
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| Eur J Hum Genet 6 : 257-265. 1998
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39 | MTHFR
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| MTHFR association with arteriosclerotic vascular disease?
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| Fletcher O, et al.
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| Hum Genet 103 : 11-21. 1998
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40 | MTHFR, NTDS1
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| Evaluation of the MTHFR C677T allele and the MTHFR gene locus in a German spina bifida population.
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| Koch MC, et al.
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| Eur J Pediatr 157 : 487-492. 1998
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41 | MTHFR
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| A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.
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| Weisberg I, Tran P, Christensen B, Sibani S, Rozen R.
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| Mol Genet Metab 64 : 169-172. 1998
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42 | MTHFR
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| Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR).
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| Goyette P, et al.
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| Mamm Genome 9 : 652-656. 1998
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43 | MTHFR, NTDS1
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| The C677T mutation of the 5,10-methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy.
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| De Franchis R, et al.
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| J Med Genet 35 : 1009-1013. 1998
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44 | MTHFR
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| A common mutation in the methylenetetrahydrofolate reductase gene is associated with an accumulation of formylated tetrahydrofolates in red blood cells.
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| Bagley PJ, et al.
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| Proc Natl Acad Sci U S A 95 : 13217-13220. 1998
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45 | MTHFR
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| Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?
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| Thuillier L, Chadefaux-Vekemans B, Bonnefont JP, Kara A, Aupetit J, Rochette C, Montalescot G, Couty MC, Kamoun P, Ankri A.
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| J Inherit Metab Dis 21 : 812-822. 1998
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46 | MTHFR
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| A common methylenetetrahydrofolate reductase gene mutation and longevity.
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| Brattstrom L, et al.
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| Atherosclerosis 141 : 315-319. 1998
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47 | BRCA1, CBS, MTHFR, MTR, NTDS1, T
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| Susceptibility to spina bifida : an association study of five candidate genes.
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| Morrison K, et al.
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| Ann Hum Genet 62 : 379-396. 1998
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48 | MTHFR
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| Differences in methylenetetrahydrofolate reductase genotype frequencies, between whites and blacks.
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| Stevenson RE, et al.
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| Am J Hum Genet 60 : 229-230. 1997
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49 | MTHFR
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| The (Ala-Val) mutation of methylenetetrahydrofolate reductase as a genetic risk factor for vascular disease in non-insulin-dependent diabetic patients.
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| Brulhart MC, et al.
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| Am J Hum Genet 60 : 228-229. 1997
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50 | MTHFR
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| The 677C-->T mutation in the methylenetetrahydrofolate reductase gene: associations with plasma total homocysteine levels and risk of coronary atherosclerotic disease.
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| Verhoef P, Kok FJ, Kluijtmans LA, Blom HJ, Refsum H, Ueland PM, Kruyssen DA.
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| Atherosclerosis 132(1):105-13. 1997
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51 | MTHFR
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| High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in Northern Italy.
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| Sacchi E, Tagliabue L, Duca F, Mannucci PM.
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| Thromb Haemost 78(2):963-4. 1997
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52 | MTHFR
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| Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects.
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| Mornet E, Muller F, Lenvoise-Furet A, Delezoide AL, Col JY, Simon-Bouy B, Serre JL.
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| Hum Genet 100(5-6):512-4. 1997
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53 | MTHFR
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| Molecular genetic analysis in mild hyperhomocysteinemia : a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
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| Kluijtmans LAJ, et al.
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| Am J Hum Genet 58 : 35-41. 1996
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54 | MTHFR
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| Elevated total plasma homocysteine and 677C-T mutation of the 5, 10-methylenetetrahydrofolate reductase gene in thrombotic vascular disease.
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| De Franchis R, et al.
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| Am J Hum Genet 59 : 262-264. 1996
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55 | MTHFR
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| 5,10 methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects.
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| Ou CY, et al.
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| Am J Med Genet 63 : 610-614. 1996
|
56 | MTHFR
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| Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
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| Goyette P, et al.
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| Am J Hum Genet 59 : 1268-1275. 1996
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57 | MTHFR
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| Common mutation in methylenetetrahydrofolate reductase. Correlation with homocysteine metabolism and late-onset vascular disease.
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| Deloughery TG, et al.
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| Circulation 94 : 3074-3078. 1996
|
58 | MTHFR
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| Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida.
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| van der Put NMJ, et al.
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| Lancet 346 : 1070-1071. 1995
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59 | MTHFR
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| A candidate genetic risk factor for vascular disease : a common mutation in methylenetetrahydrofolate reductase.
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| Frosst P, et al.
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| Nat Genet 10 : 111-113. 1995
|
60 | MTHFR
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| Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
|
| Goyette P, et al.
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| Am J Hum Genet 56 : 1052-1059. 1995
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61 | MTHFR
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| Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.
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| Engbersen AMT, et al.
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| Am J Hum Genet 56 : 142-150. 1995
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62 | MTHFR
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| Human methylenetetrahydrofolate reductase : isolation of cDNA, mapping and mutation identification.
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| Goyette P, et al.
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| Nat Genet 7 : 195-200. 1994
|