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Volumn 16, Issue 9, 2012, Pages 1038-1043

MTHFR polymorphic variant C677T is associated to vascular complications in sickle-cell disease

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN;

EID: 84866252264     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2011.0361     Document Type: Article
Times cited : (12)

References (39)
  • 1
    • 0034944685 scopus 로고    scopus 로고
    • Sickle cell disease in Kuwait
    • DOI 10.1081/HEM-100104030
    • Adekile AD (2001) Sickle cell disease in Kuwait. Hemoglobin 25:219-225. (Pubitemid 32660542)
    • (2001) Hemoglobin , vol.25 , Issue.2 , pp. 219-225
    • Adekile, A.D.1
  • 2
    • 68349104292 scopus 로고    scopus 로고
    • Risk factors for osteonecrosis of the femoral head in patients with sickle cell disease
    • Akinyoola AL, Adediran IA, Asaleye CM, et al. (2008) Risk factors for osteonecrosis of the femoral head in patients with sickle cell disease. Int Orthop 33:923-926.
    • (2008) Int Orthop , vol.33 , pp. 923-926
    • Akinyoola, A.L.1    Adediran, I.A.2    Asaleye, C.M.3
  • 3
    • 33748947653 scopus 로고    scopus 로고
    • Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain
    • DOI 10.1080/03630260600867958, PII R3L8033253622414
    • Al-Absi IK, Al-Subaie AM, Ameen G, et al. (2006) Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain. Hemoglobin 30:449-453. (Pubitemid 44435285)
    • (2006) Hemoglobin , vol.30 , Issue.4 , pp. 449-453
    • Al-Absi, I.K.1    Al-Subaie, A.M.2    Ameen, G.3    Mahdi, N.4    Mohammad, A.M.5    Fawaz, N.A.6    Almawi, W.Y.7
  • 4
    • 76449095484 scopus 로고    scopus 로고
    • Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease
    • Al-Saqladi AW, Delpisheh AHG, Fijnvandraat K, et al. (2010) Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease. Hemoglobin 34:67-77.
    • (2010) Hemoglobin , vol.34 , pp. 67-77
    • Al-Saqladi, A.W.1    Delpisheh, A.H.G.2    Fijnvandraat, K.3
  • 5
    • 0031825212 scopus 로고    scopus 로고
    • Prothrombin mutant, factor V leiden, and thermolabile variant of methylenetetrahidrofolate reductase among patients with sickle cell disease in Brazil
    • DOI 10.1002/(SICI)1096-8652(199809)59:1<46::AID-AJH9>3.0.CO;2-#
    • Andrade FL, Annichino-Bizzacchi JM, Saad ST, et al. (1998) Prothrombin mutant, factor V Leiden, and thermolabile variant of methylenetetrahydrofolate reductase among patients with sickle cell disease in Brazil. Am J Hematol 59:46-50. (Pubitemid 28395006)
    • (1998) American Journal of Hematology , vol.59 , Issue.1 , pp. 46-50
    • Andrade, F.L.1    Annichino-Bizzacchi, J.M.2    Saad, S.T.O.3    Costa, F.F.4    Arruda, V.R.5
  • 6
  • 7
    • 33745222545 scopus 로고    scopus 로고
    • Factor v Leiden is associated with higher risk of deep venous thrombosis of large blood vessels
    • Arsov T, Miladinova D, Spiroski M (2006) Factor V Leiden is associated with higher risk of deep venous thrombosis of large blood vessels. Croat Med J 47:433-439.
    • (2006) Croat Med J , vol.47 , pp. 433-439
    • Arsov, T.1    Miladinova, D.2    Spiroski, M.3
  • 8
    • 0347418229 scopus 로고    scopus 로고
    • Hypercoagulability in sickle cell disease: A curious paradox
    • DOI 10.1016/j.amjmed.2003.07.011
    • Ataga KI, Orringer EP (2003) Hypercoagulability in sickle cell disease:a curious paradox. Am J Med 115:721-728. (Pubitemid 38032666)
    • (2003) American Journal of Medicine , vol.115 , Issue.9 , pp. 721-728
    • Ataga, K.I.1    Orringer, E.P.2
  • 9
    • 0035170948 scopus 로고    scopus 로고
    • Natural coagulation inhibitors (protein C, protein S, antithrombin) in patients with sickle cell anemia in a steady state
    • DOI 10.1046/j.1442-200X.2001.01476.x
    • Bayazit Ak, Kilinç Y (2001) Natural coagulation inhibitors (protein C, protein S, antithrombin) in patients with sickle cell anemia in a steady state. Pediatr Int 43:592-596. (Pubitemid 33071122)
    • (2001) Pediatrics International , vol.43 , Issue.6 , pp. 592-596
    • Bayazit, A.K.1    Kilinc, Y.2
  • 10
    • 85056023779 scopus 로고    scopus 로고
    • Molecular variations linked to the grouping of a-and b-globin genes in neonatal patients with sickle cell disease in the state of Pernambuco, Brazil
    • Bezerra MAC, Santos MNN, Araú jo AS, et al. (2007) Molecular variations linked to the grouping of a-and b-globin genes in neonatal patients with sickle cell disease in the state of Pernambuco, Brazil. Hemoglobin 31:1-6.
    • (2007) Hemoglobin , vol.31 , pp. 1-6
    • Bezerra, M.A.C.1    Santos, M.N.N.2    Araú Jo, A.S.3
  • 14
    • 0028890671 scopus 로고
    • Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia
    • Engbersen AMT, Franken DG, Boers GHJ, et al. (1995) Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56:142-150.
    • (1995) Am J Hum Genet , vol.56 , pp. 142-150
    • Engbersen, A.M.T.1    Franken, D.G.2    Boers, G.H.J.3
  • 15
    • 44649202315 scopus 로고    scopus 로고
    • Factor VLeiden and prothrombin G20210A gene polymorphisms in patients with coronary artery disease
    • DOI 10.3349/ymj.2008.49.2.237
    • Ercan B, Tamer L, Sucu N, et al. (2008) Factor V Leiden and prothrombin G20210A gene polymorphisms in patients with coronary artery disease. Yonsei Med J 49:237-243. (Pubitemid 351781172)
    • (2008) Yonsei Medical Journal , vol.49 , Issue.2 , pp. 237-243
    • Ercan, B.1    Tamer, L.2    Sucu, N.3    Pekdemir, H.4    Camsan, A.5    Atik, U.6
  • 16
    • 3042646355 scopus 로고    scopus 로고
    • Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia
    • DOI 10.1002/ajh.20087
    • Fawaz NA, Bashawery L, Al-Sheikh I, et al. (2004) Factor VLeiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia. Am J Hematol 76:307-309. (Pubitemid 38828860)
    • (2004) American Journal of Hematology , vol.76 , Issue.3 , pp. 307-309
    • Fawaz, N.A.1    Bashawery, L.2    Al-Sheikh, I.3    Qatari, A.4    Al-Othman, S.S.5    Almawi, W.Y.6
  • 17
    • 34147141453 scopus 로고    scopus 로고
    • Sickle cell disease: Old discoveries, new concepts, and future promise
    • DOI 10.1172/JCI30920
    • Frenette PS, Atweh GF (2007) Sickle cell disease:old discoveries, new concepts, and future promise. J Clin Invest 117:850-858. (Pubitemid 46556737)
    • (2007) Journal of Clinical Investigation , vol.117 , Issue.4 , pp. 850-858
    • Frenette, P.S.1    Atweh, G.F.2
  • 18
    • 0029049553 scopus 로고
    • A candidate genetic risk factor for vascular disease:A common mutation in methylenetetrahydrofolate reductase
    • Frosst P, Blom HJ, Milos R, et al. (1995) A candidate genetic risk factor for vascular disease:a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10:111-113.
    • (1995) Nat Genet , vol.10 , pp. 111-113
    • Frosst, P.1    Blom, H.J.2    Milos, R.3
  • 19
    • 0036377016 scopus 로고    scopus 로고
    • The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients
    • DOI 10.1159/000064485
    • Haviv YS, Shpichinetsky V, Goldschmidt N, et al. (2002) The common mutations C677T and A1298C in the human methylenetetrahydrofolate reductase gene are associated with hyperhomocysteinemia and cardiovascular disease in hemodialysis patients. Nephron 92:120-126. (Pubitemid 34983885)
    • (2002) Nephron , vol.92 , Issue.1 , pp. 120-126
    • Haviv, Y.S.1    Shpichinetsky, V.2    Goldschmidt, N.3    Abou Atta, I.4    Ben-Yehuda, A.5    Friedman, G.6
  • 22
    • 0036164905 scopus 로고    scopus 로고
    • Homozygous factor v Leiden mutation in sickle cell anaemia
    • Kordes U, Janka-Schaub G, Kulozik A, et al. (2002) Homozygous factor V Leiden mutation in sickle cell anaemia. Br J Haematol 116:236-238.
    • (2002) Br J Haematol , vol.116 , pp. 236-238
    • Kordes, U.1    Janka-Schaub, G.2    Kulozik, A.3
  • 23
    • 0034944343 scopus 로고    scopus 로고
    • The methylene tetrahydrofolate reductase (C677T) mutation as a potential risk factor for avascular necrosis in sickle cell disease
    • DOI 10.1081/HEM-100104029
    • Kutlar A, Kutlar F, Turker I, et al. (2001) The methylene tetrahydrofolate reductase (C677T) mutation as a potencial risk factor for avascular necrosis in sickle cell disease. Hemoglobin 25:213-217. (Pubitemid 32660541)
    • (2001) Hemoglobin , vol.25 , Issue.2 , pp. 213-217
    • Kutlar, A.1    Kutlar, F.2    Turker, I.3    Tural, C.4
  • 24
    • 0026080111 scopus 로고
    • A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies
    • Lahiri DK, Nurnberger JI (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444.
    • (1991) Nucleic Acids Res , vol.19 , pp. 5444
    • Lahiri, D.K.1    Nurnberger, J.I.2
  • 25
  • 27
    • 0002641592 scopus 로고    scopus 로고
    • Genetics of the bS gene:origins, genetic epidemiology, and epistasis in sickle cell anemia
    • Steinberg MH, Forget BG, Higgs DR, Nagel RL (eds Cambridge University Press, New York
    • Nagel RL, Steinberg MH (2001) Genetics of the bS gene:origins, genetic epidemiology, and epistasis in sickle cell anemia. In:Steinberg MH, Forget BG, Higgs DR, Nagel RL (eds) Disorders of Hemoglobin:Genetics, Pathophisiology, and Magement. Cambridge University Press, New York, pp 711-755.
    • (2001) Disorders of Hemoglobin:Genetics, Pathophisiology, and Magement , pp. 711-755
    • Nagel, R.L.1    Steinberg, M.H.2
  • 28
    • 41449112582 scopus 로고    scopus 로고
    • Hydroxyurea for the treatment of sickle cell anemia
    • Orah S, Platt MD (2008) Hydroxyurea for the treatment of sickle cell anemia. N Engl J Med 358:1362-1369.
    • (2008) N Engl J Med , vol.358 , pp. 1362-1369
    • Orah, S.1    Platt, M.D.2
  • 29
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variant in the 38-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase invenous thrombosis
    • Poort SR, Rosendaal FR, Reitsma PH, et al. (1996) A common genetic variant in the 38-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase invenous thrombosis. Blood 88:3698.
    • (1996) Blood , vol.88 , pp. 3698
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3
  • 30
    • 33846395090 scopus 로고    scopus 로고
    • Frequency of factor v Leiden in individuals under thrombophilia investigation, Recife, Pernambuco, Brazil
    • Ramos CPS, Campos JF, Melo FCBC, et al. (2006) Frequency of factor V Leiden in individuals under thrombophilia investigation, Recife, Pernambuco, Brazil. Rev Bras Hematol Hemoter 28:131-134.
    • (2006) Rev Bras Hematol Hemoter , vol.28 , pp. 131-134
    • Ramos, C.P.S.1    Campos, J.F.2    Melo, F.C.B.C.3
  • 31
    • 67349113782 scopus 로고    scopus 로고
    • MTHFR 677 C> T and 1298 C> T polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer
    • Reeves SG, Meldrum C, Groombridge C, et al. (2009) MTHFR 677 C> T and 1298 C> T polymorphisms and the age of onset of colorectal cancer in hereditary nonpolyposis colorectal cancer. Eur J Hum Genet 17:629-635.
    • (2009) Eur J Hum Genet , vol.17 , pp. 629-635
    • Reeves, S.G.1    Meldrum, C.2    Groombridge, C.3
  • 33
    • 0037377977 scopus 로고    scopus 로고
    • 5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk: A HuGE minireview
    • DOI 10.1093/aje/kwg024
    • Robien K, Ulrich CM (2003) 5,10-Methylenetetrahydrofolate reductase polymorphisms and leukemia risk:a huge minireview. Am J Epidemiol 157:571-582. (Pubitemid 36368527)
    • (2003) American Journal of Epidemiology , vol.157 , Issue.7 , pp. 571-582
    • Robien, K.1    Ulrich, C.M.2
  • 34
    • 70149089214 scopus 로고    scopus 로고
    • Molecular pathophysiology of thrombotic states and their impact to laboratory diagnostics
    • Slavik L, Krcova V, Hlusi A, et al. (2009) Molecular pathophysiology of thrombotic states and their impact to laboratory diagnostics. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 153:19-26.
    • (2009) Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub , vol.153 , pp. 19-26
    • Slavik, L.1    Krcova, V.2    Hlusi, A.3
  • 35
    • 20044367676 scopus 로고    scopus 로고
    • Predicting clinical severity in sickle cell anaemia
    • DOI 10.1111/j.1365-2141.2005.05411.x
    • Steinberg MH (2005) Predicting clinical severity in sickle cell anaemia. Br J Haematol 129:465-481. (Pubitemid 40769896)
    • (2005) British Journal of Haematology , vol.129 , Issue.4 , pp. 465-481
    • Steinberg, M.H.1
  • 37
    • 0034613964 scopus 로고    scopus 로고
    • Methylenetetrahydrofolate reductase and spina bifida:evaluation of level of defect and maternal genotypic risk in Hispanics
    • Volcik KA, Blanton SH, Tyerman GH, et al. (2000) Methylenetetrahydrofolate reductase and spina bifida:evaluation of level of defect and maternal genotypic risk in Hispanics. Am J Med Genet 95:21-27.
    • (2000) Am J Med Genet , vol.95 , pp. 21-27
    • Volcik, K.A.1    Blanton, S.H.2    Tyerman, G.H.3
  • 38
    • 0031724415 scopus 로고    scopus 로고
    • Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease
    • DOI 10.1002/(SICI)1096-8652(199812)59:4<267::AID-AJH1>3.0.CO;2-W
    • Zimmerman SA, Ware RE (1998) Inherited DNA mutations contributing to thrombotic complications in patients with sickle cell disease. Am J Hematol 59:267-272. (Pubitemid 28543614)
    • (1998) American Journal of Hematology , vol.59 , Issue.4 , pp. 267-272
    • Zimmerman, S.A.1    Ware, R.E.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.