SLC19A1 pharmacogenomics summary

Summary of SLC19A1 variants in healthy subjects (germline polymorphisms)SNP Source Function/Effect Allele Frequency rs1051266 (Arg27His) HapMap database and dbSNP(Build 131) c i. Association with plasma folate levels[31–33] ii. Association with risk of common birthdefects [35,36] iii. Association with methotrexate transport[38] iv. Association with methotrexate plasmalevel and response [40–42] v. Association with methotrexatetoxicities [57] vi. Association with risk of cancer [ 46–50]G allele: 55%(European); 50%(Han Chinese);43.2% (Japanese);25.8% (Sub-Saharan African)rs59638403 (Leu338Phe) PMT sequencing project inunrelated healthy individuals a , b Not characterized 0.6% in AfricanAmericanrs56822323 (Gly341Asp) PMT sequencing project inunrelated healthy individuals a , b Not characterized 0.6% in AfricanAmericanrs58227024 (Cys458Gly) PMT sequencing project inunrelated healthy individuals a , b Not characterized 0.6% in AfricanAmericanrs58836581 (Asp522Asn) PMT sequencing project inunrelated healthy individuals

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[9]  Y. Assaraf,et al.  The Reduced Folate Carrier (RFC) Is Cytotoxic to Cells under Conditions of Severe Folate Deprivation , 2008, Journal of Biological Chemistry.

[10]  David Gillis,et al.  Common polymorphisms in the folate pathway predict efficacy of combination regimens containing methotrexate and sulfasalazine in early rheumatoid arthritis. , 2008, The Journal of rheumatology.

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[12]  D. Banerjee,et al.  Quantitative correlation between promoter methylation and messenger RNA levels of the reduced folate carrier , 2008, BMC Cancer.

[13]  M. Droździk,et al.  Reduced folate carrier-1 80G>A polymorphism affects methotrexate treatment outcome in rheumatoid arthritis , 2007, The Pharmacogenomics Journal.

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[17]  I. Georgiou,et al.  Transcription regulatory polymorphism −43T>C in the 5′-flanking region of SLC19A1 gene could affect rheumatoid arthritis patient response to methotrexate therapy , 2007, Rheumatology International.

[18]  N. Rothman,et al.  Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study. , 2007, Blood.

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[20]  H. Chung,et al.  XRCC1 R399Q polymorphism is associated with response to platinum-based neoadjuvant chemotherapy in bulky cervical cancer. , 2006, Gynecologic oncology.

[21]  Jian-ming Wang,et al.  Reduced folate carrier gene G80A polymorphism is associated with an increased risk of gastroesophageal cancers in a Chinese population. , 2006, European journal of cancer.

[22]  R. Finnell,et al.  Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial defects and congenital heart defects in China. , 2006, Annals of epidemiology.

[23]  Y. Assaraf,et al.  Coexistence of multiple mechanisms of PT523 resistance in human leukemia cells harboring 3 reduced folate carrier alleles: transcriptional silencing, inactivating mutations, and allele loss. , 2006, Blood.

[24]  A. Devlin,et al.  Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in a healthy elderly population. , 2006, The American journal of clinical nutrition.

[25]  H. Shimada,et al.  Effects of Methylenetetrahydrofolate Reductase and Reduced Folate Carrier 1 Polymorphisms on High-Dose Methotrexate-Induced Toxicities in Children With Acute Lymphoblastic Leukemia or Lymphoma , 2006, Journal of pediatric hematology/oncology.

[26]  Mark Lucock,et al.  G80A reduced folate carrier SNP modulates cellular uptake of folate and affords protection against thrombosis via a non homocysteine related mechanism. , 2005, Life sciences.

[27]  N. Rothman,et al.  Polymorphisms in folate metabolic genes and lung cancer risk in Xuan Wei, China. , 2005, Lung cancer.

[28]  J. Downing,et al.  Folate pathway gene expression differs in subtypes of acute lymphoblastic leukemia and influences methotrexate pharmacodynamics. , 2005, The Journal of clinical investigation.

[29]  C. Stehouwer,et al.  Folate Metabolism and Cardiovascular Disease , 2005, Seminars in vascular medicine.

[30]  J. Kremer,et al.  Contribution of common polymorphisms in reduced folate carrier and gamma-glutamylhydrolase to methotrexate polyglutamate levels in patients with rheumatoid arthritis. , 2004, Pharmacogenetics.

[31]  Y. Assaraf,et al.  Reduced folate carrier mutations are not the mechanism underlying methotrexate resistance in childhood acute lymphoblastic leukemia , 2004, Cancer.

[32]  A. Huvos,et al.  Sequence alterations in the reduced folate carrier are observed in osteosarcoma tumor samples. , 2003, Clinical cancer research : an official journal of the American Association for Cancer Research.

[33]  T. L. Witt,et al.  Role of the E45K-reduced folate carrier gene mutation in methotrexate resistance in human leukemia cells , 2002, Leukemia.

[34]  M. Krajinovic,et al.  Polymorphism G80A in the reduced folate carrier gene and its relationship to methotrexate plasma levels and outcome of childhood acute lymphoblastic leukemia. , 2002, Blood.

[35]  T. L. Witt,et al.  The Human Reduced Folate Carrier Gene Is Regulated by the AP2 and Sp1 Transcription Factor Families and a Functional 61-Base Pair Polymorphism* , 2002, The Journal of Biological Chemistry.

[36]  Y. Assaraf,et al.  Resistance to multiple novel antifolates is mediated via defective drug transport resulting from clustered mutations in the reduced folate carrier gene in human leukaemia cell lines. , 2002, The Biochemical journal.

[37]  J. Whetstine,et al.  The human reduced folate carrier gene is ubiquitously and differentially expressed in normal human tissues: identification of seven non-coding exons and characterization of a novel promoter. , 2002, The Biochemical journal.

[38]  Feng Gao,et al.  Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells. , 2002, American journal of physiology. Cell physiology.

[39]  G. Shaw,et al.  Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. , 2002, American journal of medical genetics.

[40]  R. Finnell,et al.  Polymorphisms in genes involved in folate metabolism as risk factors for NTDs. , 2001, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

[41]  T. L. Witt,et al.  Single nucleotide polymorphisms in the human reduced folate carrier: characterization of a high-frequency G/A variant at position 80 and transport properties of the His(27) and Arg(27) carriers. , 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.

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[43]  J. Whetstine,et al.  Single nucleotide polymorphisms in the human reduced folate carrier: characterization of a high-frequency G/A variant at position 80 and transport properties of the His(27) and Arg(27) carriers. , 2001, Clinical cancer research : an official journal of the American Association for Cancer Research.

[44]  G. Peters,et al.  Clustering of Mutations in the First Transmembrane Domain of the Human Reduced Folate Carrier in GW1843U89-resistant Leukemia Cells with Impaired Antifolate Transport and Augmented Folate Uptake* , 2000, The Journal of Biological Chemistry.

[45]  A. Chango,et al.  A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. , 2000, Molecular genetics and metabolism.

[46]  T. L. Witt,et al.  Impaired Membrane Transport in Methotrexate-resistant CCRF-CEM Cells Involves Early Translation Termination and Increased Turnover of a Mutant Reduced Folate Carrier* , 1999, The Journal of Biological Chemistry.

[47]  S. Raimondi,et al.  Reduced folate carrier expression in acute lymphoblastic leukemia: a mechanism for ploidy but not lineage differences in methotrexate accumulation. , 1999, Blood.

[48]  G. Peters,et al.  A Structurally Altered Human Reduced Folate Carrier with Increased Folic Acid Transport Mediates a Novel Mechanism of Antifolate Resistance* , 1998, The Journal of Biological Chemistry.

[49]  A. Tse,et al.  Mutations in the Reduced Folate Carrier Gene Which Confer Dominant Resistance to 5,10-Dideazatetrahydrofolate* , 1998, The Journal of Biological Chemistry.

[50]  Y. Assaraf,et al.  A Mutated Murine Reduced Folate Carrier (RFC1) with Increased Affinity for Folic Acid, Decreased Affinity for Methotrexate, and an Obligatory Anion Requirement for Transport Function* , 1998, The Journal of Biological Chemistry.

[51]  F. Sirotnak,et al.  Structural analysis of the human RFC-1 gene encoding a folate transporter reveals multiple promoters and alternatively spliced transcripts with 5' end heterogeneity. , 1998, Gene.

[52]  W. Flintoff,et al.  Structural Organization of the Human Reduced Folate Carrier Gene: Evidence for 5′ Heterogeneity in Lymphoblast mRNA , 1998, Somatic cell and molecular genetics.

[53]  L. Matherly,et al.  Gene amplification and increased expression of the reduced folate carrier in transport elevated K562 cells. , 1998, Biochemical pharmacology.

[54]  F. Sirotnak,et al.  RFC-1 Gene Expression Regulates Folate Absorption in Mouse Small Intestine* , 1997, The Journal of Biological Chemistry.

[55]  S. Rubin,et al.  Human intestinal folate transport: cloning, expression, and distribution of complementary RNA. , 1997, Gastroenterology.

[56]  M. Mazumdar,et al.  Defective transport is a common mechanism of acquired methotrexate resistance in acute lymphocytic leukemia and is associated with decreased reduced folate carrier expression. , 1997, Blood.

[57]  L. Matherly,et al.  Isolation of Human cDNAs That Restore Methotrexate Sensitivity and Reduced Folate Carrier Activity in Methotrexate Transport-defective Chinese Hamster Ovary Cells (*) , 1995, The Journal of Biological Chemistry.

[58]  W. Flintoff,et al.  Isolation of a Human cDNA That Complements a Mutant Hamster Cell Defective in Methotrexate Uptake (*) , 1995, The Journal of Biological Chemistry.

[59]  V. Ganapathy,et al.  Molecular cloning of the human placental folate transporter. , 1995, Biochemical and biophysical research communications.

[60]  K. Cowan,et al.  A novel cDNA restores reduced folate carrier activity and methotrexate sensitivity to transport deficient cells. , 1994, The Journal of biological chemistry.