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Genomix Nutrition SNP Definition


  • Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt
    DS, Matthews RG, Rozen R (Jun 1994).“Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification”. Nature Genetics 7 (2): 195–200.
    doi:10.1038/ng0694-195.PMID 7920641.

  • “Entrez Gene: MTHFR methylene tetrahydrofolate reductase (NAD(P)
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  • Trimmer EE (2013).“Methylenetetrahydrofolate
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  • Tran P, Leclerc D, Chan M, Pai A, Hiou-Tim F, Wu Q, Goyette
    P, Artigas C, Milos R, Rozen R (Sep 2002).“Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms”.MammalianGenome13(9):483–92.
    doi:10.1007/ s00335-002-2167-6 . PMID 12370778.

  • Matthews RG, Daubner SC (1982).“Modulation of methylenetetrahydrofolate reductase activity by S-adenosylmethionine and by dihydrofolate and its polyglutamateanalogues”.AdvancesinEnzymeRegulation20: 123–31. doi:10.1016/0065-2571(82)90012-7.PMID 7051769.

  • Yamada K, Strahler JR, Andrews PC, Matthews RG (Jul 2005). “Regulation of human methylenetetrahydrofolate reductase
    by phosphorylation”
    . Proceedings of the National Academy of Sciences of the United States of America 102 (30): 10454–9. doi:10.1073/pnas.0504786102. PMC 1180802. PMID 16024724.

  • Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt
    DS, Matthews RG, Rozen R (Aug 1994).“Human methylenetetrahydrofolate reductase: isolation of cDNA mapping and mutation identification”. Nature Genetics 7 (4): 551.
    doi:10.1038/ng0894-551a.PMID 7951330.

  • Sibani S, Christensen B, O’Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R (2000).“Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) geneinpatientswithhomocystinuria”.HumanMutation15(3): 280–7. doi:10.1002/(SICI)1098-1004(200003)15:3<280::AID- HUMU9>3.0.CO;2-I .PMID 10679944.

  • Schneider JA, Rees DC, Liu YT, Clegg JB (May 1998). “Worldwide distribution of a common methylenetetrahydrofolate reductase
    . American Journal of Human Genetics 62 (5): 1258–60. doi:10.1086/301836. PMC 1377093. PMID 9545406.

  • Reilly R, McNulty H, Pentieva K, Strain JJ, Ward M (Feb 2014).“MTHFR 677TT genotype and disease risk: is there amodulatingroleforB-vitamins?”.TheProceedings of the Nutrition Society 73 (1): 47–56. doi:10.1017/S0029665113003613. PMID 24131523

• Yamada K, Chen Z, Rozen R, Matthews RG (Dec 2001). “Effects of common polymorphisms on the properties of recombinant human methylenetetrahydrofolate reductase” . Proceedings of the National Academy of Sciences of the United States of America 98 (26): 14853–8. doi:10.1073/pnas.261469998. PMC 64948.PMID 11742092.

Schwahn B, Rozen R (2001).“Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences”.AmericanJournalofPharmacogenomics1(3): 189–201. doi:10.2165/00129785-200101030-00004. PMID 12083967.

Bailey LB (Nov 2003).“Folate, methyl-related nutrients, alcohol, and the MTHFR 677C-->T polymorphism affect cancer risk: intake recommendations”. The Journal of Nutrition133 (11 Suppl 1): 3748S–3753S. PMID 14608109.

Wu X, Zhao L, Zhu H, He D,Tang W, Luo Y (Jul 2012). “Association between the MTHFR C677T polymorphism and recurrent pregnancy loss: a meta-analysis”. Genetic Testing and Molecular Biomarkers 16 (7): 806–11. doi:10.1089/gtmb.2011.0318. PMID 22313097. PMID 11502178.

• Schnell JR, Dyson HJ, Wright PE (2004).”Structure, dynamics, and catalytic function of dihydrofolate reductase”. Annu Rev Biophys Biomol Struct 33 (1): 119–40.doi:10.1146/annurev.biophys.33. PMID 15139807. • Crabtree MJ, Tatham AL, Hale AB, Alp NJ, Channon KM (2009). “Critical role for tetrahydrobiopterin recycling by dihydrofolate reductase in regulation of endothelial nitric-oxide synthase coupling: relative importance of the de novo biopterin synthesis versus salvage pathways” . J. Biol. Chem. 284 (41): 28128–36.doi:10.1074/jbc. M109.041483 . PMID 19666465.

• Benkovic SJ, Fierke CA, Naylor AM (March 1988). “Insights into enzyme function from studies on mutants of dihydrofolate reductase”. Science 239 (4844): 1105–10. doi:10.1126/ science.3125607 . PMID 3125607.

• Huennekens FM (June 1996). “In search of dihydrofolate reductase” . Protein Sci. 5(6): 1201–8. doi:10.1002/ pro.5560050626 . PMID 8762155.

• Bailey SW, Ayling JE (2009). “The extremely slow and variable activity of dihydrofolate reductase in human liver and its implications for high folic acid intake” . Proc. Natl. Acad. Sci. U.S.A. 106 (36): 15424–9. doi:10.1073/ pnas.0902072106 . PMID 19706381.

• Beierlein JM, Karri NG, Anderson AC (October 2010). “Targeted mutations of Bacillus anthracis dihydrofolate reductase condense complex structure− activity relationships” . J. Med. Chem. 53 (20): 7327–36. doi:10.1021/ jm100727t . PMID 20882962.


• Henderson GB (1990). “Folate-binding proteins”. Annu. Rev. Nutr. 10: 319–35. PMID 2166548.

• Kelemen LE (2006). “The role of folate receptor alpha in cancer development, progression and treatment: cause, consequence or innocent bystander?”. Int. J. Cancer 119 (2): 243–50. PMID 16453285.

• Ragoussis J, Senger G, Trowsdale J, Campbell IG (1992). “Genomic organization of the human folate receptor genes on chromosome 11q13”. Genomics 14 (2): 423–30. . PMID 1330883.

• Elwood PC (1989). “Molecular cloning and characterization of the human folate-binding protein cDNA from placenta and malignant tissue culture (KB) cells”. J. Biol. Chem. 264 (25): 14893–901. PMID 2768245.

• Sadasivan E, Rothenberg SP (1989). “Molecular cloning of the complementary DNA for a human folate binding protein”. Proc. Soc. Exp. Biol. Med. 189 (2): 240–4. PMID 3194438.

• Yan W, Ratnam M (1995). “Preferred sites of glycosylphosphatidylinositol modification in folate receptors and constraints in the primary structure of the hydrophobic portion of the signal”. Biochemistry 34 (44): 14594–600.. PMID7578066.

• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). “Construction and characterization of a full length-enriched and a 5’-end- enriched cDNA library”. Gene 200 (1–2): 149–56. . PMID 9373149.


• Henderson GB (1990). “Folate-binding proteins.”. Annu. Rev. Nutr. 10: 319–35.. PMID 2166548.

Nishiyama M, Kato Y, Hashimoto M,Yukawa S, Omori K
(May 2000).“Apolipoprotein E, methylenetetrahydrofolate reductase (MTHFR) mutation and the risk of senile dementia- -an epidemiological study using the polymerase chain reaction(PCR)method”.JournalofEpidemiology/Japan Epidemiological Association 10 (3): 163–72.
doi:10.2188/ jea.10.163 . PMID 10860300.

Mischoulon D, Raab MF (2007). “The role of folate in depression and dementia” . The Journal of Clinical Psychiatry. 68 Suppl 10: 28–33. PMID 17900207.

Hua Y, Zhao H, Kong Y,Ye M (Aug 2011).“Association between the MTHFR gene and Alzheimer’s disease: a meta- analysis”.TheInternationalJournalofNeuroscience121(8): 462–71. doi:10.3109/00207454.2011.578778. PMID 21663380.

Papakostas, G. I.; Shelton, R. C.; Zajecka, J. M.; Bottiglieri,T; Roffman, J; Cassiello, C; Stahl, S. M.; Fava, M (2014).“Effect of adjunctive L-methylfolate 15 mg among inadequate responders to SSRIs in depressed patients who were stratified by biomarker levels and genotype: Results from a randomized clinicaltrial”.TheJournalofClinicalPsychiatry75(8):

855–63. doi:10.4088/JCP.13m08947. PMID 24813065. DHFR

• Chen MJ, Shimada T, Moulton AD, Cline A, Humphries RK, Maizel J,NienhuisAW(March1984). “Thefunctionalhumandihydrofolate reductase gene” . J. Biol. Chem. 259(6): 3933–43. PMID 6323448.

• Funanage VL, Myoda TT, Moses PA, Cowell HR (October
“Assignment of the human dihydrofolate reductase gene to the q11----q22 region of chromosome 5” . Mol. Cell. Biol. 4 (10): 2010–6. PMID 6504041.

• Osborne MJ, Schnell J, Benkovic SJ, Dyson HJ, Wright PE (August 2001). “Backbone dynamics in dihydrofolate reductase complexes: role of loop flexibility in the catalytic mechanism”. Biochemistry 40 (33): 9846–59.

  • Ragoussis J, Senger G, Trowsdale J, Campbell IG (1992). “Genomic organization of the human folate receptor genes on chromosome 11q13.”. Genomics 14 (2): 423–30. . PMID 1330883.

  • Freisheim JH, Price EM, Ratnam M (1990). “Folate coenzyme and antifolate transport proteins in normal and neoplastic cells.”. Adv. Enzyme Regul. 29: 13–26. PMID 2561247.

  • Ratnam M, Marquardt H, Duhring JL, Freisheim JH (1990). “Homologous membrane folate binding proteins in human placenta: cloning and sequence of a cDNA.”. Biochemistry 28 (20): 8249–54. PMID 2605182.

  • Shen F, Ross JF, Wang X, Ratnam M (1994). “Identification of a
    novel folate receptor, a truncated receptor, and receptor type beta in hematopoietic cells: cDNA cloning, expression, immunoreactivity, and tissue specificity.”.Biochemistry 33 (5): 1209–15. .
    PMID 8110752.

  • Page ST, Owen WC, Price K, Elwood PC (1993). “Expression of the human placental folate receptor transcript is regulated in human tissues. Organization and full nucleotide sequence of the gene.”. J. Mol. Biol. 229 (4): 1175–83. PMID 8445646.

  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). “Construction and characterization of a full length-enriched and a 5’-end- enriched cDNA library.”. Gene 200 (1-2): 149–56.. PMID 9373149.

  • Nakashima-Matsushita N, Homma T, Yu S; et al. (1999). “Selective expression of folate receptor beta and its possible role in methotrexate transport in synovial macrophages from patients with rheumatoid arthritis.”. Arthritis Rheum. 42 (8): 1609–16. . PMID 10446858.

  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). “Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.” . Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899– 903. PMID 12477932.


    • Leclerc D, Wilson A, Dumas R, Gafuik C, Song D, Watkins D,
      Heng HH, Rommens JM, Scherer SW, Rosenblatt DS, Gravel RA
      (Mar 1998).
      “Cloning and mapping of a cDNA for methionine
      synthase reductase, a flavoprotein defective in patients with homocystinuria”
      . Proceedings of the National Academy of Sciences of the United States of America 95 (6): 3059–64. PMID 9501215.

    • “Entrez Gene: MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase”

    • Wilson A, Platt R, Wu Q, Leclerc D, Christensen B,Yang
      H, Gravel RA, Rozen R (Aug 1999).“A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida”.Molecular Genetics and Metabolism 67 (4): 317–23.
      PMID 10444342.

    • James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ,
      Gibson JB,Yi P,Tafoya DL, Swenson DH, Wilson VL, Gaylor DW (Oct 1999).“Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factorsforDownsyndrome”.TheAmericanJournalofClinical Nutrition 70 (4): 495–501.
      PMID 10500018.

    • Leclerc D, Odièvre M, Wu Q, Wilson A, Huizenga JJ, Rozen
      R, Scherer SW, Gravel RA (Nov 1999).“Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene”. Gene 240 (1): 75–88.
      PMID 10564814.

    • Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE (Nov 2002). “Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida” . American Journal of Human Genetics 71 (5): 1222–6.. PMID 12375236.

    • Pietrzyk JJ,Bik-Multanowski M,Sanak M,Twardowska M (2003).“Polymorphisms of the 5,10-methylenetetrahydrofolate and the methionine synthase reductase genes as independent risk factors for spina bifida”. Journal of Applied Genetics 44 (1): 111–3. PMID 12590188.

    • Zhu H, Wicker NJ, Shaw GM, Lammer EJ, Hendricks K, Suarez L, Canfield M, Finnell RH (Mar 2003).“Homocysteine remethylation enzyme polymorphisms and increased
      risks for neural tube defects”. Molecular Genetics and Metabolism 78 (3): 216–21.
      PMID 12649067.

    • Brilakis ES, Berger PB, Ballman KV, Rozen R (Jun 2003). “Methylenetetrahydrofolate reductase (MTHFR) 677C>T and methionine synthase reductase (MTRR) 66A>G polymorphisms: association with serum homocysteine and angiographic coronary artery disease in the era of flour products fortified with folic acid”.Atherosclerosis 168 (2): 315–22. doi:10.1016/S0021-9150(03)00098-4. PMID 12801615.

    • Beyer K, Lao JI, Latorre P, Riutort N, Matute B, Fernández- Figueras MT, Mate JL, Ariza A (Jul 2003).“Methionine synthase polymorphism is a risk factor for Alzheimer disease”. NeuroReport 14 (10): 1391–4. doi:10.1097/01. wnr.0000073683.00308.0e . PMID 12876480.

    • Bosco P, Guéant-Rodriguez RM, Anello G, Barone C, Namour F, Caraci F, Romano A, Romano C, Guéant JL (Sep 2003). “Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/ methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome”. American Journal of Medical Genetics. Part A 121A (3): 219–24. PMID 12923861.

    • Olteanu H, Wolthers KR, Munro AW, Scrutton NS, Banerjee R (Feb 2004).“Kinetic and thermodynamic characterization of the common polymorphic variants of human methionine synthase reductase”. Biochemistry 43(7): 1988–97. PMID 14967039.

    • Vaughn JD, Bailey LB, Shelnutt KP, Dunwoody KM, Maneval DR, Davis SR, Quinlivan EP, Gregory JF,Theriaque DW, Kauwell GP (Nov 2004).“Methionine synthase reductase 66A->G polymorphism is associated with increased plasma homocysteine concentration when combined with the homozygous methylenetetrahydrofolate reductase 677C- >T variant”. The Journal of Nutrition 134 (11): 2985–90. PMID 15514263. Neurotransmitter SNPs


• Grossman MH, Emanuel BS, Budarf ML (April 1992). “Chromosomal mapping of the human catechol-O-methyltransferase gene to 22q11.1-q11.2”. Genomics 12 (4): 822–5. PMID 1572656.

• Tai CH, Wu RM (February 2002). “Catechol-O-methyltransferase and Parkinson’s disease”. Acta Med. Okayama 56 (1): 1–6. PMID 11873938.

• Axelrod J (August 1957). “O-Methylation of Epinephrine and Other Catechols in vitro and in vivo”.Science 126 (3270): 400– 1. PMID 13467217.

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• Golan, David E.; Armen H. Tashjian Jr. Principles of pharmacology (3rd ed.). Philadelphia: Wolters Kluwer Health. p. 135. ISBN 1-60831-270-4.

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• Chen J, Lipska BK, Halim N, Ma QD, Matsumoto M, Melhem S, Kolachana BS, Hyde TM, Herman MM, Apud J, Egan MF, Kleinman JE, Weinberger DR (2004). “Functional analysis of genetic variation in catechol-O- methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain” . American Journal of Human Genetics 75 (5): 807–21. PMID 15457404.

• Bruder GE, Keilp JG, Xu H, Shikhman M, Schori E, Gorman JM, Gilliam TC (December 2005). “Catechol-O-methyltransferase (COMT) genotypes and working memory: associations with differing cognitive operations”. Biol. Psychiatry 58 (11): 901–7. PMID 16043133.

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• Wichers M, Aguilera M, Kenis G, Krabbendam L, Myin-Germeys I, Jacobs N, Peeters F, Derom C, Vlietinck R, Mengelers R, Delespaul
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“Entrez Gene: MAOB monoamine oxidase B”.
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• Mallajosyula JK, Chinta SJ, Rajagopalan S, Nicholls DG, Andersen
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• Kumar MJ, Andersen JK (August 2004). “Perspectives on MAO-B in aging and neurological disease: where do we go from here?”. Mol. Neurobiol. 30 (1): 77–89. PMID 15247489.

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• Kelly CD, Edwards Y, Johnstone AP, Harfst E, Nógrádi A, Nussey SS, Povey S, Carter ND (1992). “Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase”. Ann. Hum. Genet. 56 (Pt 3): 255–65.. PMID 1339255.

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Mitochondrial SNP References


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• Cross RL (2004). “Molecular motors: turning the ATP motor”. Nature 427 (6973): 407–417 . PMID 14749816

• Deloukas P, Earthrowl ME, Grafham DV, et al. (2004). “The DNA sequence and comparative analysis of human chromosome 10”. Nature 429 (6990): 375–81. doi:10.1038/nature02462. PMID 15164054

• Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Yan W.L. ... Gusella J.F. (Genomics 1994) PMID 7698763

• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard D.S. ... Malek J. (Genome Res. 2004) PMID 15489334

• Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier L.W. ... Wilson R.K. (Nature 2005) PMID 15815621


• Cross RL (2004). “Molecular motors: turning the ATP motor.”. Nature 427 (6973): 407–8. doi:10.1038/427407b. .

• Dyer MR, Walker JE (1993). “Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase.” . Biochem. J. 293 (1): 51–64.. PMID 8328972.

• Gerhard DS, Wagner L, Feingold EA; et al. (2004). “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).” . Genome Res. 14 (10B): 2121–7.doi:10.1101/ gr.2596504 . PMC 528928. PMID 15489334

• Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Yan W.L. ... Gusella J.F. (Genomics 1994) PMID 7698763

• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard D.S. ... Malek J. (Genome Res. 2004) PMID 15489334

• Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Hillier L.W. ... Wilson R.K. (Nature 2005) PMID 15815621


A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy. Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati,
S., Pongratz, D.E., Müller-Höcker, J., Jedele, K.B., Meitinger, T., Gerbitz, K.D. J. Med. Genet. (1998) [

Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Kraytsberg, Y., Kudryavtseva, E., McKee, A.C., Geula, C., Kowall, N.W., Khrapko, K. Nat. Genet. (2006)

Defects in cytochrome oxidase assembly in humans: lessons from yeast. Zee, J.M., Glerum, D.M. Biochem. Cell Biol. (2006)

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. Clark, K.M., Taylor, R.W., Johnson, M.A., Chinnery, P.F., Chrzanowska-Lightowlers, Z.M., Andrews, R.M., Nelson, I.P., Wood, N.W., Lamont, P.J., Hanna, M.G., Lightowlers, R.N., Turnbull, D.M. Am. J. Hum. Genet. (1999)

The structure of mammalian cyclooxygenases. Garavito, R.M., Mulichak, A.M. Annual review of biophysics and biomolecular structure. (2003)


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