Influence of combined methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) polymorphisms to plasma homocysteine levels in Korean patients with recurrent spontaneous abortion

Thrombosis Research

Volumn 117, Issue 6, 2006, Pages 653-658

  Kim, Nam Keun ^a   Choi, Yoon Kyung ^a   Kang, Myung Seo ^a   Choi, Dong Hee ^a   Cha, Sun Hee ^a   An, Myung Ok ^a   Lee, Suman ^a   Jeung, Mingull ^b   Ko, Jung Jae ^a   Oh, Doyeun ^a  

^a Bundang CHA Hospital   (South Korea)

^b Kongju National University   (South Korea)

Author keywords

Homocysteine; MTHFR; Recurrent spontaneous abortion (RSA); TSER

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); HOMOCYSTEINE; THYMIDYLATE SYNTHASE;

ADULT; AMINO ACID BLOOD LEVEL; ARTICLE; BLOOD ANALYSIS; CONTROLLED STUDY; ENHANCER REGION; ENZYME POLYMORPHISM; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HUMAN; HYPERHOMOCYSTEINEMIA; IMMUNOFLUORESCENCE TEST; KOREA; MAJOR CLINICAL STUDY; MEASUREMENT; MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECURRENT ABORTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SPONTANEOUS ABORTION; STATISTICAL SIGNIFICANCE; TANDEM REPEAT;

ABORTION, HABITUAL; ADULT; ENHANCER ELEMENTS (GENETICS); FEMALE; GENE FREQUENCY; HOMOCYSTEINE; HUMANS; KOREA; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); MUTATION; POLYMORPHISM, GENETIC; PREGNANCY; RETROSPECTIVE STUDIES; THYMIDYLATE SYNTHASE;

EID: 33646492062     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.thromres.2005.05.025     Document Type: Article

References (28)

1. Younis J.S., Ohel G., Brenner B., and Ben-Ami M. Familial thrombophilia - the scientific rationale for thrombophylaxis in recurrent pregnancy loss?. Hum Reprod 12 (1997) 1389-1390
2. Raziel A., Kornberg Y., Fridler S., Schachter M., Sela B.A., and Ron-El R. Hypercoagulable thrombothilic defects and hyperhomocysteinemia in patients with recurrent pregnancy loss. Am J Reprod lmmunol 45 (2001) 65-71
3. Yamada H., Kato E.H., Kobashi G., Ebina Y., Shimada S., Morikawa M., et al. Recurrent pregnancy loss: etiology of thrombophilia. Semin Thromb Hemost 27 (2001) 121-129
4. Nelen W.L., Blom H.J., Streeers E.A., den Heijer M., and Eskes T.K. Hyperhomocysteinemia and recurrent early pregnancy loss: a meta analysis. Fertil Steril 74 (2000) 1196-1199
5. McCully K.S. Chemical pathology of homocysteine. Ann Clin Lab Sci 24 (1994) 27-59
6. Chango A., Boisson F., Barbe F., Quilliot D., Droesch S., Pfister M., et al. The effect of 677C->T and 1298A->C mutations on plasma homocysteine and 5,10-methylenetetrahydrofolate reductase activity in healthy subjects. Br J Nutr 83 (2000) 593-596
7. Loscalzo J. The oxidant stress of hyperhomocysteinemia. J Clin Invest 98 (1996) 5-7
8. Fodinger M., Wagner O.F., Horl W.H., and Sunder-Plassmann G. Recent insights into the molecular genetics of the homocysteine metabolism. Kidney Int Suppl 78 (2001) S238-S242
9. Jakubowski H., Zhang L., Bardeguez A., and Aviv A. Homocysteine thiolactone and protein homocystinylation in human endothilial cells: implications for atherosclerosis. Circ Res 87 (2000) 45-51
10. Matsuo K., Suzuki R., Hamajima N., Ogura M., Kagami Y., Taji H., et al. Association between polymorphisms of folate- and methionine-metabolizing enzymes and susceptibility to malignant lymphoma. Blood 97 (2001) 3205-3209
11. Wouters M.G.A.J., Boers G.H.J., Blom H.J., Trijbels F.J.M., Tomas C.M.G., Borm G.F., et al. Hyperhomocysteinaemia: a risk factor in women with unexplained recurrent early pregnancy loss. Fertil Steril 60 (1993) 820-825
12. Quere I., Bellet H., Hoffet M., Janbon C., Mares P., and Gris J.C. A women with five consecutive fetal deaths: case report and retrospective analysis of hyper-homocysteinaemia prevalence in 100 consecutive women with recurrent miscarriages. Fertil Steril 69 (1998) 152-154
13. Kawakami K., Omura K., Kanehira E., and Watanabe Y. Polymorphic tandem repeats in the thymidylate synthase gene is associated with its protein expression in human gastrointestinal cancers. Anticancer Res 19 (1999) 3249-3252
14. Horie N., Aiba H., Oguro K., Hojo H., and Takeishi K. Functional analysis and DNA polymorphism of the tandemly repeated sequences in the 5′-terminal regulatory region of the human gene for thymidylate synthase. Cell Struct Funct 20 (1995) 191-197
15. Trinh B.N., Ong C.N., Coetzee G.A., Yu M.C., and Laird P.W. Thymidylate synthase: a novel genetic determinant of plasma homocysteine and folate levels. Hum Genet 111 (2002) 299-302
16. Kim N.K., Kang G.D., Kim H.J., Kim S.H., Nam Y.S., Lee S., et al. Genetic polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR C677T and A1298C) in healthy Korean. Korean J Genetics 24 (2002) 227-234
17. Nelen W.L., Steegers E.A., Eskes T.K., and Blom H.J. Genetic risk factor for unexplained recurrent early pregnancy loss. Lancet 350 (1997) 861
18. Kupferminc M.J., Eldor A., Steinman N., Many A., Bar-Am A., Jaffa A., et al. Increased frequency of genetic thrombophilia in women with complications of pregnancy. Lancet 340 (1999) 9-13
19. Kutteh W.H., Park V.M., and Deitcher S.R. Hypercoagulable state mutation analysis in white patients with early first-trimester recurrent pregnancy loss. Fertil Steril 71 (1999) 1048-1053
20. Brenner B., Sarig G., Weiner Z., Younis J., Blumenfeld Z., and Lanir N. Thrombophilic polymorphisms are common in women with fetal loss without apparent cause. Thromb Haemost 82 (1999) 6-9
21. Nelen W.L., Blom H.J., Thomas C.M., Steegers E.A., Boers G.H., and Eskes T.K. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentration resulting from low dose folic acid supplementation in women unexplained recurrent miscarriages. J Nutr 128 (1998) 1336-1341
22. Nappo F., De Rosa N., Marfella R., De Lucia D., Ingrosso D., Perna A.F., et al. Impairment of endothelial functions by acute hyperhomocysteinemia and reversal by antioxidant vitamins. JAMA 281 (1999) 2113-2118
23. Boushey C.J., Beresford S.A., Omenn G.S., and Motulsky A.G. A quantitative assessment of plasma homocysteine as a risk factor for vascular disease: probable benefits of increasing folic acid intakes. JAMA 274 (1995) 1049-1057
24. Den Heijer M., Rosendaal F.R., Blom H.J., Gerrits W.B., and Bos G.M. Hyperhomocysteinemia and venous thrombosis; a meta-analysis. Thromb Haemost 80 (1998) 874-877
25. Obwegeser R., Hohlagschwandtner M., and Sinzinger H. Homocysteine-a patho-physiological cornerstone in obstetrical and gynecological disorders?. Hum Reprod Update 5 (1999) 64-72
26. Ubbink J.B., Vermaak W.J., van der Merwe A., Becker P.J., Delport R., and Potgieter H.C. Vitamin requirements for the treatment of hyperhomocysteinaemia in humans. J Nutr 124 (1994) 1927-1933
27. French A.E., Grant R., Weitzman S., Ray J.G., Vermeulen M.J., Sung L., et al. Folic acid food fortification is associated with a decline in neuroblastoma. Clin Pharmacol Ther 74 (2003) 288-294
28. Brown K.S., Kluijtmans L.A., Young I.S., McNulty H., Mitchell L.E., Yarnell J.W., et al. The thymidylate synthase tandem repeat polymorphism is not associated with homocysteine concentrations in healthy young subjects. Hum Genet 114 (2004) 182-185