SLC19A1 80G allele as a biomarker of methotrexate-related gastrointestinal toxicity in Portuguese rheumatoid arthritis patients

Pharmacogenomics

Volumn 15, Issue 6, 2014, Pages 807-820

  Lima, Aurea ^a,b,c   Bernardes, Miguel ^d,e   Sousa, Hugo ^b,d   Azevedo, Rita ^b,d   Costa, Lúcia ^e   Ventura, Francisco ^d   Seabra, Vítor ^a   Medeiros, Rui ^b,c,f  

^a INSTITUTO DE INVESTIGAÇÃO E FORMAÇÃO AVANÇADA EM CIÊNCIAS E TECNOLOGIAS DA SAÚDE   (Portugal)

^b PORTUGUESE ONCOLOGY INSTITUTE   (Portugal)

^c UNIVERSITY OF PORTO   (Portugal)

^d University of Porto   (Portugal)

^e HOSPITAL DE SÃO JOÃO   (Portugal)

^f LPCC Portuguese League Against Cancer (NRNorte)   (Portugal)

Author keywords

adverse drug reactions; gastrointestinal toxicity; methotrexate; rheumatoid arthritis; SLC19A1 RFC 1 G80A polymorphism

Indexed keywords

BIOLOGICAL MARKER; METHOTREXATE; REDUCED FOLATE CARRIER; ANTIRHEUMATIC AGENT; FOLIC ACID; SLC19A1 PROTEIN, HUMAN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DRUG SAFETY; FEMALE; GASTROINTESTINAL TOXICITY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HIGH RISK PATIENT; HUMAN; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RHEUMATOID ARTHRITIS; RISK FACTOR; SLC19A1 GENE; AGED; ARTHRITIS, RHEUMATOID; DRUG EFFECTS; GASTROINTESTINAL TRACT; GENETICS; METABOLISM; MIDDLE AGED; PORTUGAL; RETROSPECTIVE STUDY; VERY ELDERLY;

ADULT; AGED; AGED, 80 AND OVER; ALLELES; ANTIRHEUMATIC AGENTS; ARTHRITIS, RHEUMATOID; BIOLOGICAL MARKERS; FEMALE; FOLIC ACID; GASTROINTESTINAL TRACT; GENOTYPE; HUMANS; MALE; METHOTREXATE; MIDDLE AGED; PORTUGAL; REDUCED FOLATE CARRIER PROTEIN; RETROSPECTIVE STUDIES;

EID: 84896373858     PISSN: 14622416     EISSN: 17448042     Source Type: Journal    
DOI: 10.2217/PGS.13.244     Document Type: Article

References (63)

1. Imboden JB, Hellmann DB, Stone JH. Chapter 15: Rheumatoid Arthritis: the Disease Diagnosis and Clinical Features. In: Current Rheumatology Diagnosis & Treatment, McGraw Hill, NY, USA, 161-169 (2006).
2. Benucci M, Saviola G, Manfredi M, Sarzi-Puttini P, Atzeni F. Cost effectiveness analysis of disease-modifying antirheumatic drugs in rheumatoid arthritis. A systematic review literature. Int. J. Rheumatol. 2011, 845496 (2011).
3. Ranganathan P, McLeod HL. Methotrexate pharmacogenetics: the first step toward individualized therapy in rheumatoid arthritis. Arthritis Rheum. 54(5), 1366-1377 (2006).
4. Bohanec Grabar P, Leandro-Garcia LJ, Inglada-Perez L, Logar D, Rodriguez-Antona C, Dolzan V. Genetic variation in the SLC19A1 gene and methotrexate toxicity in rheumatoid arthritis patients. Pharmacogenomics 13(14), 1583-1594 (2012).
5. Dervieux T, Furst D, Lein DO et al. Polyglutamation of methotrexate with common polymorphisms in reduced folate carrier, aminoimidazole carboxamide ribonucleotide transformylase, and thymidylate synthase are associated with methotrexate effects in rheumatoid arthritis. Arthritis Rheum. 50(9), 2766-2774 (2004).
6. Urano W, Taniguchi A, Yamanaka H et al. Polymorphisms in the methylenetetrahydrofolate reductase gene were associated with both the efficacy and the toxicity of methotrexate used for the treatment of rheumatoid arthritis, as evidenced by single locus and haplotype analyses. Pharmacogenetics 12(3), 183-190 (2002).
7. Romao VC, Canhao H, Fonseca JE. Old drugs, old problems: where do we stand in prediction of rheumatoid arthritis responsiveness to methotrexate and other synthetic DMARDs? BMC Med. 11, 17 (2013).
8. Ulrich CM, Robien K, Sparks R. Pharmacogenetics and folate metabolism-a promising direction. Pharmacogenomics 3(3), 299-313 (2002).
9. Hinken M, Halwachs S, Kneuer C, Honscha W. Subcellular localization and distribution of the reduced folate carrier in normal rat tissues. Eur. J. Histochem. 55(1), e3 (2011).
10. Whetstine JR, Gifford AJ, Witt T 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. Clin. Cancer Res. 7(11), 3416-3422 (2001).
11. Chango A, Emery-Fillon N, De Courcy GP et al. A polymorphism (80G-A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol. Genet. Metab. 70(4), 310-315 (2000).
12. Drori S, Jansen G, Mauritz R, Peters GJ, Assaraf YG. 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. J. Biol. Chem. 275(40), 30855-30863 (2000).
13. Dervieux T, Greenstein N, Kremer J. Pharmacogenomic and metabolic biomarkers in the folate pathway and their association with methotrexate effects during dosage escalation in rheumatoid arthritis. Arthritis Rheum. 54(10), 3095-3103 (2006).
14. Plaza-Plaza JC, Aguilera M, Canadas-Garre M et al. Pharmacogenetic polymorphisms contributing to toxicity induced by methotrexate in the southern Spanish population with rheumatoid arthritis. OMICS 16(11), 589-595 (2012).
15. Owen SA, Hider SL, Martin P, Bruce IN, Barton A, Thomson W. Genetic polymorphisms in key methotrexate pathway genes are associated with response to treatment in rheumatoid arthritis patients. Pharmacogenomics J. 13(3), 227-234 (2012).
16. Takatori R, Takahashi KA, Tokunaga D et al. ABCB1 C3435T polymorphism influences methotrexate sensitivity in rheumatoid arthritis patients. Clin. Exp. Rheumatol. 24(5), 546-554 (2006).
17. Chatzikyriakidou A, Georgiou I, Voulgari PV, Papadopoulos CG, Tzavaras T, Drosos AA. Transcription regulatory polymorphism-43T
18. Kato T, Hamada A, Mori S, Saito H. Genetic polymorphisms in metabolic and cellular transport pathway of methotrexate impact clinical outcome of methotrexate monotherapy in Japanese patients with rheumatoid arthritis. Drug Metab. Pharmacokinet. 27(2), 192-199 (2012).
19. Aletaha D, Neogi T, Silman AJ et al. 2010 rheumatoid arthritis classification criteria: an American College of Rheumatology/European League Against Rheumatism collaborative initiative. Ann. Rheum. Dis. 69(9), 1580-1588 (2010).
20. Ortiz Z, Shea B, Suarez Almazor M, Moher D, Wells G, Tugwell P. Folic acid and folinic acid for reducing side effects in patients receiving methotrexate for rheumatoid arthritis. Cochrane Database Syst. Rev. 2, CD000951 (2000).
21. Ortiz Z, Shea B, Suarez-Almazor ME, Moher D, Wells GA, Tugwell P. The efficacy of folic acid and folinic acid in reducing methotrexate gastrointestinal toxicity in rheumatoid arthritis. A metaanalysis of randomized controlled trials. J. Rheumatol. 25(1), 36-43 (1998).
22. Reynolds T. Declaration of Helsinki revised. J. Natl Cancer Inst. 92(22), 1801-1803 (2000).
23. Anderson JJ, Wells G, Verhoeven AC, Felson DT. Factors predicting response to treatment in rheumatoid arthritis: the importance of disease duration. Arthritis Rheum. 43(1), 22-29 (2000).
24. Ronnelid J, Wick MC, Lampa J et al. Longitudinal analysis of citrullinated protein/peptide antibodies (anti-CP) during 5 year follow up in early rheumatoid arthritis: anti-CP status predicts worse disease activity and greater radiological progression. Ann. Rheum. Dis. 64(12), 1744-1749 (2005).
25. Green M, Marzo-Ortega H, McGonagle D et al. Persistence of mild, early inflammatory arthritis: the importance of disease duration, rheumatoid factor, and the shared epitope. Arthritis Rheum. 42(10), 2184-2188 (1999).
26. Morel J, Combe B. How to predict prognosis in early rheumatoid arthritis. Best Pract. Res. Clin. Rheumatol. 19(1), 137-146 (2005).
27. Halilova KI, Brown EE, Morgan SL et al. Markers of treatment response to methotrexate in rheumatoid arthritis: where do we stand? Int. J. Rheumatol. 2012, 978396 (2012).
28. Prevoo ML, van 'T Hof MA, Kuper HH, van Leeuwen MA, van de Putte LB, van Riel PL. Modified disease activity scores that include twenty-eight-joint counts. Development and validation in a prospective longitudinal study of patients with rheumatoid arthritis. Arthritis Rheum. 38(1), 44-48 (1995).
29. Kremer JM. Toward a better understanding of methotrexate. Arthritis Rheum. 50(5), 1370-1382 (2004).
30. Tian H, Cronstein BN. Understanding the mechanisms of action of methotrexate: implications for the treatment of rheumatoid arthritis. Bull. NYU Hosp. Jt Dis. 65(3), 168-173 (2007).
31. Rodriguez S, Gaunt TR, Day IN. Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am. J. Epidemiol. 169(4), 505-514 (2009).
32. Aletaha D, Kapral T, Smolen JS. Toxicity profiles of traditional disease modifying antirheumatic drugs for rheumatoid arthritis. Ann. Rheum. Dis. 62(5), 482-486 (2003).
33. Bohanec Grabar P, Logar D, Lestan B, Dolzan V. Genetic determinants of methotrexate toxicity in rheumatoid arthritis patients: a study of polymorphisms affecting methotrexate transport and folate metabolism. Eur. J. Clin Pharmacol. 64(11), 1057-1068 (2008).
34. Warren RD, Nichols AP, Bender RA. Membrane transport of methotrexate in human lymphoblastoid cells. Cancer Res. 38(3), 668-671 (1978).
35. Yanagimachi M, Naruto T, Hara T et al. Influence of polymorphisms within the methotrexate pathway genes on the toxicity and efficacy of methotrexate in patients with juvenile idiopathic arthritis. Br. J. Clin. Pharmacol. 71(2), 237-243 (2011).
36. Stamp LK, Roberts RL. Effect of genetic polymorphisms in the folate pathway on methotrexate therapy in rheumatic diseases. Pharmacogenomics 12(10), 1449-1463 (2011).
37. Owen SA, Lunt M, Bowes J et al. MTHFR gene polymorphisms and outcome of methotrexate treatment in patients with rheumatoid arthritis: analysis of key polymorphisms and meta-analysis of C677T and A1298C polymorphisms. Pharmacogenomics J. 13(2), 137-147 (2012).
38. Kurzawski M, Pawlik A, Safranow K, Herczynska M, Drozdzik M. 677C>T and 1298A>C MTHFR polymorphisms affect methotrexate treatment outcome in rheumatoid arthritis. Pharmacogenomics 8(11), 1551-1559 (2007).
39. Gibofsky A. Overview of epidemiology, pathophysiology, and diagnosis of rheumatoid arthritis. Am. J. Manag. Care. 18(13 Suppl.), S295-302 (2012).
40. National Collaborating Centre for Chronic Conditions (UK). Rheumatoid Arthritis: National Clinical Guideline for Management and Treatment in Adults. NICE Clinical Guidelines No. 79. Royal College of Physicians, London, UK (2009).
41. Rindfleisch JA, Muller D. Diagnosis and management of rheumatoid arthritis. Am Fam Physician 72(6), 1037-1047 (2005).
42. Salliot C, van der Heijde D. Long-term safety of methotrexate monotherapy in patients with rheumatoid arthritis: a systematic literature research. Ann. Rheum. Dis. 68(7), 1100-1104 (2009).
43. Morgan SL, Baggott JE, Vaughn WH et al. The effect of folic acid supplementation on the toxicity of low-dose methotrexate in patients with rheumatoid arthritis. Arthritis Rheum. 33(1), 9-18 (1990).
44. Baggott JE, Morgan SL. Folic acid supplements are good (not bad) for rheumatoid arthritis patients treated with low-dose methotrexate. The Am. J. Clin. Nutr. 88(2), 479-480; author reply 480 (2008).
45. Pavy S, Constantin A, Pham T et al. Methotrexate therapy for rheumatoid arthritis: clinical practice guidelines based on published evidence and expert opinion. Joint Bone Spine 73(4), 388-395 (2006).
46. Harten P. [Reducing toxicity of methotrexate with folic acid]. Z. Rheumatol. 64(5), 353-358 (2005).
47. Becker ML, van Haandel L, Gaedigk R et al. Red blood cell folate concentrations and polyglutamate distribution in juvenile arthritis: predictors of folate variability. Pharmacogenet Genomics. 22(4), 236-246 (2012).
48. Hoekstra M, van Ede AE, Haagsma CJ et al. Factors associated with toxicity, final dose, and efficacy of methotrexate in patients with rheumatoid arthritis. Ann. Rheum. Dis. 62(5), 423-426 (2003).
49. Gisondi P, Fantuzzi F, Malerba M, Girolomoni G. Folic acid in general medicine and dermatology. J. Dermatolog. Treat. 18(3), 138-146 (2007).
50. Swierkot J, Szechinski J. Methotrexate in rheumatoid arthritis. Pharmacol. Rep. 58(4), 473-492 (2006).
51. Smolen JS, Han C, Bala M et al. Evidence of radiographic benefit of treatment with infliximab plus methotrexate in rheumatoid arthritis patients who had no clinical improvement: a detailed subanalysis of data from the anti-tumor necrosis factor trial in rheumatoid arthritis with concomitant therapy study. Arthritis Rheum. 52(4), 1020-1030 (2005).
52. Vander Cruyssen B, van Looy S, Wyns B et al. DAS28 best reflects the physician's clinical judgment of response to infliximab therapy in rheumatoid arthritis patients: validation of the DAS28 score in patients under infliximab treatment. Arthritis Res. Ther. 7(5), R1063-R1071 (2005).
53. Weinblatt ME, Keystone EC, Furst DE, Kavanaugh AF, Chartash EK, Segurado OG. Long term efficacy and safety of adalimumab plus methotrexate in patients with rheumatoid arthritis: ARMADA 4 year extended study. Ann. Rheum. Dis. 65(6), 753-759 (2006).
54. Saadeh C. The erythrocyte sedimentation rate: old and new clinical applications. South Med. J. 91(3), 220-225 (1998).
55. Brigden M. The erythrocyte sedimentation rate. Still a helpful test when used judiciously. Postgrad. Med. 103(5), 257-262, 272-254 (1998).
56. Inoue E, Yamanaka H, Hara M, Tomatsu T, Kamatani N. Comparison of Disease Activity Score (DAS)28-erythrocyte sedimentation rate and DAS28-C-reactive protein threshold values. Ann. Rheum. Dis. 66(3), 407-409 (2007).
57. Matsui T, Kuga Y, Kaneko A et al. Disease Activity Score 28 (DAS28) using C-reactive protein underestimates disease activity and overestimates EULAR response criteria compared with DAS28 using erythrocyte sedimentation rate in a large observational cohort of rheumatoid arthritis patients in Japan. Ann. Rheum. Dis. 66(9), 1221-1226 (2007).
58. Patatanian E, Thompson DF. A review of methotrexate-induced accelerated nodulosis. Pharmacotherapy 22(9), 1157-1162 (2002).
59. Krane SM, Simon LS. Rheumatoid arthritis: clinical features and pathogenetic mechanisms. Med Clin North Am. 70(2), 263-284 (1986).
60. Kevat S, Ahern M, Hall P. Hepatotoxicity of methotrexate in rheumatic diseases. Med Toxicol Adverse Drug Exp. 3(3), 197-208 (1988).
61. Navarro C, Mejia M, Gaxiola M, Mendoza F, Carrillo G, Selman M. Hypersensitivity pneumonitis: a broader perspective. Treat. Respir. Med. 5(3), 167-179 (2006).
62. Baslund B, Gregers J, Nielsen CH. Reduced folate carrier polymorphism determines methotrexate uptake by B cells and CD4+ T cells. Rheumatology (Oxford) 47(4), 451-453 (2008).
63. Stanislawska-Sachadyn A, Mitchell LE, Woodside JV et al. The reduced folate carrier (SLC19A1) c.80G>A polymorphism is associated with red cell folate concentrations among women. Ann. Hum. Genet. 73(Pt 5), 484-491 (2009).