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Pharmacogenomics Volume 8, 2007 - Issue 1
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Research Article

Pharmacogenetic Study of Methylenetetrahydrofolate Reductase and Thymidylate Synthase in Japanese and Assessment of Ethnic and Gender Differences

Sachie Inoue1 Kitasato University, Division for Evaluation and Analysis of Drug Information, Center for Clinical Pharmacy and Clinical Sciences, School of Pharmacy, 5-9-1 Shirokane, Minato-ku, Tokyo108–8641, Japan. Tel: +81 357 916 341; Fax: +81 357 916 341; [email protected]View further author information
,
Masayuki Hashiguchi1 Kitasato University, Division for Evaluation and Analysis of Drug Information, Center for Clinical Pharmacy and Clinical Sciences, School of Pharmacy, 5-9-1 Shirokane, Minato-ku, Tokyo108–8641, Japan. Tel: +81 357 916 341; Fax: +81 357 916 341; [email protected]View further author information
,
Takeshi Chiyoda2 Medical Co. LTA Clinical Pharmacology Center, Osaki Clinic, 5-7-13 Kitashinagawa, Shinagawa-ku, Tokyo141–0001, Japan.View further author information
,
Yukiko Sunami2 Medical Co. LTA Clinical Pharmacology Center, Osaki Clinic, 5-7-13 Kitashinagawa, Shinagawa-ku, Tokyo141–0001, Japan.View further author information
,
Takanori Tanaka2 Medical Co. LTA Clinical Pharmacology Center, Osaki Clinic, 5-7-13 Kitashinagawa, Shinagawa-ku, Tokyo141–0001, Japan.View further author information
&
Mayumi Mochizuki1 Kitasato University, Division for Evaluation and Analysis of Drug Information, Center for Clinical Pharmacy and Clinical Sciences, School of Pharmacy, 5-9-1 Shirokane, Minato-ku, Tokyo108–8641, Japan. Tel: +81 357 916 341; Fax: +81 357 916 341; [email protected]View further author information
Pages 41-47 | Published online: 22 Dec 2006

Bibliography

  • Japan Rheumatism Foundation. The Basic Text of Rheumatism (2nd Edition). Japan Rheumatism Foundation, Tokyo, Japan, 230–237 (2003).
  • American College of Rheumatology Subcommittee on Rheumatoid Arthritis Guidelines: Guidelines for the management of rheumatoid arthritis 2002 update. Arthritis Rheum.46(2), 328–346 (2002).
  • Anderson JJ , WellsG, VerhoevenAC et al.: Factors predicting response to treatment in rheumatoid arthritis. Arthritis Rheum.43(1), 22–29 (2000).
  • 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, 423–426 (2003).
  • Mckendry RJR , DaleP: Adverse effects of low dose methotrexate therapy in rheumatoid arthritis.J. Rheumatol.20, 1850–1856 (1993).
  • Hughes LB , BeasleyTM, PatelH et al.: Racial or ethnic differences in allele frequencies of single-nucleotide polymorphisms in the methylenetetrahydrofolate reductase gene and their influence on response to methotrexate in rheumatoid arthritis. Ann. Rheum. Dis.65, 1213–1218 (2006).
  • Furst DE , KoehnkeR, BurmeisterLF et al.: Increasing methotrexate effect with increasing dose in the treatment of resistant rheumatoid arthritis. J. Rheumatol.16, 313–320 (1989).
  • Kashiwazaki S , IchikawaY, SugawaraS et al.: Determination of the clinical optimal dose of L-377 (methotrexate capsule) for the treatment of rheumatoid arthritis. Jpn J. Inflamm.16(6), 437–458 (1996).
  • Frosst P , BlomHJ, MilosR et al.: A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat. Genet.10, 111–113 (1995).
  • Weisberg I , TranP, ChristensenB et al.: A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity. Mol. Genet. Metab.64, 169–172 (1998).
  • Horie N , AibaH, OguroK et al.: Functional analysis and DNA polymorphism of the tandem repeated sequences in the 5'-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct. Funct.20, 191–197 (1995).
  • Lenz H -J, Zhang W, Zahedy S : A 6 base-pair deletion in the 3´ UTR of the thymidylate synthase (TS) gene predicts TS mRNA expression in colorectal tumors. A possible candidate gene for colorectal cancer risk. Proc. Am. Assoc. Cancer Res.43, 3274 (2002).
  • Sadewa AH , Sunarti, Sutomo R : The C677T mutation in the methylenetetrahydrofolate reductase gene among the Indonesian Japanese population. Kobe J. Med. Sci.48(4), 137–144 (2002).
  • Marsh S , AmeyawMM, Githang‘aJ et al.: Novel thymidylate synthase enhancer region alleles in African populations. Hum. Mutat.16(6), 528 (2000).
  • Hishida A , MatsuoK, HamajimaN et al.: Associations between polymorphisms in the thymidylate synthase and serine hydroxymethyltransferase genes and susceptibility to malignant lymphoma. J. Hematol.88(2), 159–166 (2003).
  • Ulrich CM , BiglerJ, VelicerCM et al.: Searching expressed sequence tag databases: discovery and confirmation of a common polymorphism in the thymidylate synthase gene. Cancer Epidemiol. Biomarkers Prev.9, 1381–1385 (2000).
  • Smits KM , SchoutenJS, SmitsLJ et al.: A review on the design and reporting of studies on drug–gene interaction. J. Clin. Epidemiol.58(7), 651–654 (2005).
  • Hiraoka M , KatoK, SaitoY et al.: Gene–nutrient and gene–gene interactions of controlled folate intake by Japanese women. Biochem. Biophys. Res. Commun.316, 1210–1216 (2004).
  • Matsui T , AraiH, YuzurihaT et al.: Elevated plasma homocysteine levels and risk of silent brain infarction in elderly people. Stroke32, 1116–1119 (2001).
  • Kowa H , YasuiK, TakeshimaT et al.: The homozygous C677T mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for migraine. Am. J. Med. Genet.96, 762–764 (2000).
  • Kimura H , GejyoF, SuzukiS et al.: The C677T methylenetetrahydrofolate reductase gene mutation in hemodialysis patients. J. Am. Soc. Nephrol.11, 885–893 (2000).
  • Ou T , Yamakawa-KobayashiK, ArinamiT et al.: Methylenetetrahydrofolate reductase and apolipoprotein E polymorphisms are independent risk factors for coronary heart disease in Japanese: a case–control study. Atherosclerosis137, 23–28 (1998).
  • Lwin H , YoshiikeN, YokoyamaT et al.: The relationships between plasma total homocysteine and selected atherosclerotic risk factors according to the C677T methylenetetrahydrofolate reductase gene in Japanese. Eur. J. Cardiovasc. Prev. Rehabil.12, 182–184 (2005).
  • Ishikawa H , IshikawaT, MiyatsuY et al.: A polymorphism of methionine synthase reductase gene increases chromosomal damage in peripheral lymphocytes in smokers. Mutat. Res.599, 135–143 (2006).
  • Kumagai K , HiyamaK, OyamaT et al.: Polymorphisms in the thymidylate synthase and methylenetetrahydrofolate reductase genes and sensitivity to the low-dose methotrexate therapy in patients with rheumatoid arthritis. Int. J. Mol. Med.11, 593–600 (2003).
  • Kawakami K , SalongaD, OmuraK et al.: Effects of polymorphic tandem repeat sequence on the in vitro translation of messenger RNA. Proc. Am. Assoc. Cancer Res.40, 436–437 (1999).
  • Kawakami K , OmuraK, KanehiraE et al.: Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers. Anticancer Res.19, 3249–3252 (1999).
  • Kameda H , AmanoK, SekiguchiN: Factors predicting the response to low-dose methotrexate therapy in patients with rheumatoid arthritis: a better response in male patients.Mod. Rheumatol.14, 442–446 (2004).
  • 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).
  • Anderson JJ , WellsG, VerhoevenAC et al.: Factors predicting response to treatment in rheumatoid arthritis: the importance of disease duration. Arthritis Rheum.43(1), 22–29 (2000).
  • Amouzou EK , ChabiNW, AdjallaCE et al.: High prevalence of hyperhomocysteinemia related to folate deficiency and the 677C→T mutation of the gene encoding methylenetetrahydrofolate reductase in coastal West Africa. Am. J. Clin. Nutr.79, 619–624 (2004).
  • Pegoraro RJ , ChikosiA, RomL et al.: Methylenetetrahydrofolate reductase gene polymorphisms in black South Africans and the association with preeclampsia. Acta Obstet. Gynecol. Scand.83, 449–454 (2004).
  • Loktionov A , VorsterH, O‘NeillIK et al.: Apolipoprotein E and methylenetetrahydrofolate reductase genetic polymorphisms in relation to other risk factors for cardiovascular disease in UK Caucasians and Black South Africans. Atherosclerosis145, 125–135 (1999).
  • Lincz LF , ScorgieFE, KerridgeI et al.: Methionine synthase genetic polymorphism MS A2756G alters susceptibility to follicular but not diffuse large B-cell non-Hodgkin‘s lymphoma or multiple myeloma. Br. J. Haematol.120, 1051–1054 (2003).
  • Rady PL , SzucsS, GradyJ et al.: Genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) in ethnic populations in Texas; a report of a novel MTHFR polymorphic site, G1793A. Am. J. Med. Genet.107, 162–168 (2002).
  • Mcilroy SP , DynanLB, LawsonJT et al.: Moderately elevated plasma homocysteine, methylenetetrahydrofolate reductase genotype, and risk for stroke, vascular dementia, and Alzheimer disease in Northern Ireland. Stroke33, 2351–2356 (2002).
  • Gemmati D , OngaroA, ScapoliGL et al.: Common gene polymorphisms in the metabolic folate and methylation pathway and the risk of acute lymphoblastic leukemia and non-Hodgkin‘s lymphoma in adults. Cancer Epidemiol. Biomarkers Prev.13(5), 787–794 (2004).
  • Russo GT , FrisoS, JacquesPF et al.: Age and gender affect the relation between methylenetetrahydrofolate reductase C677T genotype and fasting plasma homocysteine concentrations in the Framingham Offspring Study cohort. J. Nutr.133, 3416–3421 (2003).
  • Storti S , VittoriniS, LasconeMR et al.: Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects. Clin. Chem. Lab. Med.41(3), 276–280 (2003).
  • Zalavras C hG, Giotopoulou S, Dokou E et al.: Lack of association between the C677T mutation in the 5,10-methylenetetrahydrofolate reductase gene and venous thromboembolism in Northwestern Greece. Int. Angiol.21, 268–271 (2002).
  • Lamgsemlehner U , KripplP, RennerW et al.: The common 677C>T gene polymorphism of methylenetetrahydrofolate reductase gene is not associated with breast cancer risk. Breast Cancer Res. Treat.81, 169–172 (2003).
  • Hustad S , UelandPM, VollsetSM et al.: Riboflavin as a determinant of plasma total homocysteine: effect of modification by the methylenetetrahydrofolate reductase C677T polymorphism. Clin. Chem.46(8), 1065–1071 (2000).
  • Chambers JC , OrelandH, ThompsonE et al.: Methylenetetrahydrofolate reductase 677C→T mutation and coronary heart disease risk in UK Indian Asians. Arterioscler. Thromb. Vasc. Biol.20, 2448–2452 (2000).
  • Sazci A , ErgulE, BayulkemK: Association of C677T and A1298C polymorphisms of methylenetetrahydrofolate reductase gene in patients with essential tremor in Turkey.Move. Disord.19(12), 1472–1476 (2004).
  • Vesela K , PavlikovaM, JanosikovaB et al.: Genetic determinants of folate status in central Bohemia. Physiol. Res.54, 295–303 (2005).
  • Rudd MF , SellickGS, AllinsonR et al.: MTHFR polymorphisms and risk of chronic lymphocystic leukemia. Cancer Epidemiol. Biomarkers Prev.13(12), 2268–2270 (2004).
  • Ventura P , RosaMC, AbbatiG et al.: Hyperhomocysteinaemia in chronic liver diseases: role of disease stage, vitamin status and methylenetetrahydrofolate reductase genetics. Liver Int.25, 46–56 (2005).
  • Marcucci R , SofiF, FediS et al.: Thrombophilic risk factors in patients with severe carotid atherosclerosis. J. Thromb. Haemost.3, 502–507 (2005).
  • Wang B , FuS, ZhangG et al.: Study of the relationship between psorasis and the polymorphic site C677T of methylenetetrahydrofolate reductase. Clin. Med. Sci. J.15(2), 119–120 (2000).
  • Lu Y , ZhaoY, LiuG et al.: Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population. Thromb. Res.106, 7–12 (2002).
  • Sun J , XuY, XueJ et al.: Methylenetetrahydrofolate reductase polymorphism associated with susceptibility to coronary heart disease in Chinese type 2 diabetic patients. Mol. Cell. Endocrinol.229, 95–101 (2005).
  • Wang B , JinR, KanR et al.: Association of MTHFR gene polymorphism C677T with susceptibility to late-onset Alzheimer‘s disease. J. Mol. Neurosci.27, 23–27 (2005).
  • Song C , XingD, TanW et al.: Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population. Cancer Res.61, 3272–3275 (2001).
  • Jiang Q , ChenK, MaXBS et al.: Diets, polymorphisms of methylenetetrahydrofolate reductase, and the susceptibility of colon cancer and rectal cancer. Cancer Detect. Prev.29, 146–154 (2005).
  • Zhang G , DaiC: Gene polymorphisms of homocysteine metabolism-related enzymes in Chinese patients with occlusive coronary artery or cerebral vascular diseases.Thromb. Res.104, 187–195 (2001).
  • Ho C -H, Kuo I-TB, Kong C-W et al.: Influence of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, B vitamins and other factors on plasma homocysteine and risk of thromboembolic disease in Chinese. J. Chin. Med. Assoc.68(12), 560–565 (2005).
  • Kim KN , KimYJ, ChangN: Effects of the interaction between the C677T 5,10-methylenetetrahydrofolate reductase polymorphism and serum B vitamins on homocysteine levels in pregnant women.Eur. J. Clin. Nutr.58, 10–16 (2004).
  • Sull JW , JeeSH, YiS et al.: The effect of methylenetetrahydrofolate reductase polymorphism C677T on cervical cancer in Korean women. Gynecol Oncol.95, 557–563 (2004).
  • Hur M , ParkJY, ChoHC et al.: Methylenetetrahydrofolate reductase A1298C genotypes are associated with the risks of acute lymphoblastic leukemia and chronic myelogenous leukaemia in the Korean population. Clin. Lab. Haematol.28, 154–159 (2006).
  • Graziano F , KazuyukiK, GoW et al.: Association of thymidylate synthase polymorphisms with gastric cancer susceptibility. Int. J. Cancer112, 1010–1014 (2004).
  • Marsh S , Collie-DuguidESR, Tao Li et al.: Ethnic variation in the thymidylate synthase enhancer region polymorphism among Caucasian and Asian populations. Genomics58, 310–312 (1999).
  • Luo H -R, Lu X-M, Yao Y-G et al.: Length polymorphism of thymidylate synthase regulatory region in Chinese populations and evolution of the novel alleles. Biochem. Genet.40, 41–51 (2002).
  • Tan W , MiaoX, WangL et al.: Significant increase in risk of gastroesophageal cancer is associated with interaction between promoter polymorphisms in thymidylate synthase and serum folate status. Carcinogenesis26(8), 1430–1435 (2005).
  • Gao C -M, Toshiro T, Wu J-Z et al.: Polymorphisms in thymidylate synthase and methylenetetrahydrofolate reductase genes and the susceptibility to esophageal and stomach cancer with smoking. Asian Pac. J. Cancer Prev.5, 133–138 (2004).
  • Zhang J , CuiY, KuangG et al.: Association of the thymidylate synthase polymorphisms with esophageal squamous cell carcinoma and gastric cardiac adenocarcinoma. Carcinogenesis25(12), 2479–2485 (2004).

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