The allele frequencies of three polymorphisms in genes involved in homocysteine metabolism in a group of unrelated healthy Singaporeans

Disease Markers

Volumn 29, Issue 2, 2010, Pages 111-119

  Chen, Chuanfei ^a   Gan, Yik Yuen ^a  

^a NANYANG TECHNOLOGICAL UNIVERSITY   (Singapore)

Author keywords

5,10 Methylenetetrahydrofolate reductase; Cystathionine synthase; Homocysteine; Methionine synthase; Polymorphism; Singaporean

Indexed keywords

CYSTATHIONINE BETA SYNTHASE; HOMOCYSTEINE; METHIONINE SYNTHASE; METHYLENETETRAHYDROFOLIC ACID;

ADOLESCENT; ADULT; AGED; ALLELE; ARTICLE; ASIAN; CHINESE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE FREQUENCY; GENE INSERTION; GENETIC RISK; HUMAN; HUMAN EXPERIMENT; INDIAN; MALE; NORMAL HUMAN; PRIORITY JOURNAL;

EID: 78649502674     PISSN: 02780240     EISSN: None     Source Type: Journal    
DOI: 10.3233/DMA-2010-0741     Document Type: Article

References (67)

1. N.M.J. van der Put, E.F. van der Molen, L.A.J. Kluijtmans, S.G.Heil, J.M.F. Trijbels, T.K.A.B. Eskes, D.VanOppenraaijEmmerzaal, R. Banerjee and H.J. Blom, Sequence analysis of the coding region of human methionine synthase: relevance to hyperhomocysteinaemia in neuraltube defects and vascular disease, QJM: An International Journal of Medicine 90 (1997), 511-517.
2. M.Y. Tsai, M. Bignell, F. Yang, B.G.Welge, K.J. Graham and N.Q. Hanson, Polygenic influence on plasma homocysteine: association of two prevalent mutations, the 844ins68 of cystathionineβsynthase and A2756G of methionine synthase, with lowered plasma homocysteine levels, Atherosclerosis 149 (2000), 131-137.
3. M.Y. Tsai, F. Yang, M. Bignell, O. Aras and N.Q. Hanson, Relation between plasma homocysteine concentration, the 844ins68 variant of the cystathionineβsynthase gene, and pyridoxal5' phosphate concentration, Molecular Genetics and Metabolism 67 (1999), 352-356.
4. D. Leclerc, E. Campeau, P. Goyette, C.E. Adjalla, B. Christensen, M. Ross, P. Eydoux, D.S. Rosenblatt, R. Rozen and R.A. Gravel, Human methionine synthase: cDNA cloning and identification ofmutations in patients of the cblG complementation group of folate/cobalamin disorders, Human Molecular Genetics 5 (1996), 1867-1874.
5. T.F. Ashavaid, K.K. Shalia, A.A. Kondkar, S.P. Todur, K.G. Nair and S.R.Nair, Gene polymorphism and coronary risk factors in Indian population, Clinical Chemistry and Laboratory Medcine 40 (2002), 975-985.
6. O.J. Kim, S.P. Hong, J.Y. Ahn, S.H. Hong, T.S. Hwang, S.O. Kim,W.Yoo, D.Oh andN.K.Kim, Influence of combinedmethionine synthase (MTR 2756A > G) and methylenetetrahydrofolate reductase (MTHFR 677C > T) polymorphisms to plasma homocysteine levels in Korean patients with ischemic stroke, Yonsei Medical Journal 48 (2007), 201-209.
7. P. Frosst, H.J. Blom, R. Milos, P. Goyette, C.A. Sheppard, R.G. Matthews, G.J.H. Boers, M. den Heijer, L.A.J. Kluijtmans, L.P. van den Heuvel and R. Rozen, A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase, Nature Genetics 10 (1995), 111-113.
8. M. Kawashiri, K. Kajinami, A. Nohara, K. Yagi, A. Inazu, J. Koizumi and H. Mabuchi, Effect of common methylenetetrahydrofolate reductase genemutation on coronary artery diseases in familial hypercholesterolemia, The American Journal of Cardiology 86 (2000), 840-845.
9. T. Ou, K. YamakawaKobayashi, T. Arinami, H. Amemiya, H. Fujiwara, K. Kawata, M. Saito, S. Kikuchi, Y. Noguchi, Y. Sugishita and H. Hamaguchi, Methylenetetrahydrofolate reductase and apolipoprotein E polymorphisms are independent risk factors for coronary heart disease in Japanese: a casecontrol study, Atherosclerosis 137 (1998), 23-28.
10. C.H. Ho, The influence of age, sex, vitamin B12, folate levels and methylenetetrahydrofolate reductase C677T genetic mutations on plasma homocysteine in the Chinese population, Haematologica 85 (2000), 1051-1054.
11. J.Z. Sun, Y.C. Xu, Y.L. Zhu and H.Y. Lu, Genetic polymorphism of methylenetetrahydrofolate reductase as a risk factor for diabetic nephropathy in Chinese type 2 diabetic patients, Diabetes Research and Clinical Practice 64 (2004), 185-190.
12. V.R. Bhagwat, A.S. Yadav and I.M. Rathod, Homocysteine, lipid indices and antioxidants in patients with ischaemic heart disease from Maharashtra, India, Singapore Medical Journal 50 (2009), 418-424.
13. G. Zhang and C. Dai, Correlation analysis between plasma homocysteine level and polymorphism of homocysteine metabolism related enzymes in ischemic cerebrovascular or cardiovascular diseases, Zhonghua Xue Ye Xue Za Zhi 23 (2002), 126-129.
14. C.L. Chao, H.H. Tsai, C.M. Lee, S.M. Hsu, J.T. Kao, K.L. Chien, F.C. Sung and Y.T. Lee, The graded effect of hyperhomocysteinemia on the severity and extent of coronary arherosclerosis, Atherosclerosis 147 (1999), 379-380.
15. C.H. Ho, B.I.T. Kuo, C.W. Kong, W.K. Chau, H.C. Hsu, J.P. Gau and Y.B. Yu, Influence of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, B vitamins and other factors on plasma homocysteine and risk of thromboembolic disease in Chinese, Journal of the Chinese Medical Association 68 (2005), 560-565.
16. T.S. Hsu, L.A. Hsu, C.J. Chang, C.F. Sun, Y.L. Ko, C.T. Kuo, C.W. Chiang and Y.S. Lee, Importance of hyperhomocysteinemia as a risk factor for venous thromboembolism in a Taiwanese population. A casecontrol study, Thrombosis Research 102 (2001), 387-395.
17. G. Sebastio, M.P. Sperandeo, M. Panico, R. de Franchis, J.P. Krans and G. Andria, The molecular basis of homocystinuria due to cystathionineβ synthase deficiency in Italian families, and report of four novel mutations, American Journal of Human Genetics 56 (1995), 13241333.
18. M.Y. Tsai, M. Bignell, K. Schiwichtenberg and I.V. Hanson, High prevalence of a mutation in the cystathionineβsynthase gene, American Journal of Human Genetics 59 (1996), 12621267.
19. B. Giusti, O. CamachoVanegas, M. Attanasio, P. Comeglio, A.M. Gori, T. Brunelli, D. Prisco, G.F. Gensini, R. Abbate and G. Pepe, Microheterogeneity in the distribution of the 844ins68 in the cystathionineβsynthase gene in Italy, Thrombosis Research 94 (1999), 249254.
20. Y.J. Kim, R.A. Williamson, J.C. Murray, J. Andrews, J.J. Pietscher, P.J. Peraud and D.C. Merrill, Genetic susceptibility to preeclampsia: roles of cytosinetothymine substitution at nucleotide 677 of the gene for methylenetetrahydrofolate reductase, 68base pair insertion at nucleotide 844 of the gene for cystathionineβsynthase, and factor V leiden mutation, American Journal of Obstetrics and Gynecology 184 (2001), 1211-1217.
21. L.A.J. Kluijtmans, G.H.J. Boers, F.J.M. Trijbels, H.M.A. van LithZanders, L.P.W.J. van den Heuvel and H.J. Blom, A common 844ins68 insertion variant in the cystathionineβsynthase gene, Biochemical andMolecular Medicine 62 (1997), 23-25.
22. C. Konrad, G.A. Muller, C. Langer, G. Kuhlenbaumer, K. Berger, D.G. Nabavi, R. Dziewas, F. Stogbaner, E.B. Ringelstein and R. Junker, Plasma homocysteine, MTHFR C677T, CBS 844ins68, and MTHFD1 G1958A polymorphisms in spontaneous cervical artery dissections, Journal of Neurology 251 (2004), 1242-1248.
23. S.H. Hong, J. Song and J.Q Kim, Genetic variation of the methylenetetrahydrofolate reductase and cystathionineβsynthase genes in Korean patients with coronary artery disease and a new polymorphism in intron 7, Molecular and Cellular Probes 15 (2001), 119-123.
24. G.S. Zhang and C.W. Dai, Gene polymorphisms of homocysteine metabolismrelated enzymes in Chinese patients with occlusive coronary artery or cerebral vascular disease, Thrombosis Research 104 (2001), 187-195.
25. S. Dutta, S. Sinha, A. Chattopadhyay, P.K. Gangopadhyay, J. Mukhopadhyay, M. Singh and K. Mukhopadhyay, Cystathionineβsynthase T833C/844INS68 polymorphism: a familybased study on mentally retarded children, Behavioral and Brain Functions 1 (2005), 25-30.
26. V. De Stefano, V. Dekou, V. Nicaud, J.F. Chasse, J. London, D. Stansbie, S.E. Humphries and V. Gudnason, Linkage disequilibrium at the cystathionineβ synthase (CBS) locus and the association between genetic variation at the CBS locus and plasma levels of homocysteine, Annals of Human Genetics 62 (1998), 481-490.
27. M. Orendac, B. Muskova, E. Richterova, J. Zvarova, M. Stefek, E. Zaykova, J.P. Kraus, J. Stribrny, J. Hyanek and V. Kozich, Is the common 844ins68 polymorphism in the systathionineβsynthase gene associated with atherosclerosis? Journal of Inherited Metabolic Disease 22 (1999), 674-675.
28. M.C. Speer, J. Nye, D.McLone, G.Worley, E.C.Melvin, K.D. Viles, A. Franklin, C. Drake, J. Mackey, T.M. George and NTD Collaborative Group, Possible interaction of genotypes at cystathionineβsynthase and methylenetetrahydrofolate reductase (MTHFR) in neural tube effects, Clinical Genetics 56 (1999), 142-144.
29. G. Pepe, O.C. Vanegas, O. Rickards, B. Giusti, P. Comeglio, T. Brunelli, R.Marcucci, D. Prisco, G.F. Gensini and R. Abbate, World distribution of the T833C/844INS68 CBS in cis double mutation: a reliable anthropological marker, Human Genetics 104 (1999), 126-129.
30. L.H. Chen, M.L. Lin, H.Y. Hwang, L.S. Chen, J. Korenberg and B. Shane, Human methionine synthase: cDNA cloning, gene location and expression, Journal of Biological Chemistry 273 (1997), 3628-3634.
31. S. Gulati, P. Baker, Y.N. Li, B. Fower, W. Kruger, L.C. Brody and R. Banerjee, Deffects in human methionine synthase in cblG patients, Human Molecular Genetics 5 (1996), 1859-1865.
32. Y.N. Li, S. Gulati, P.J. Baker, L.C. Brody, R. Banerjee and W.E. Kruger, Cloning, mapping and RNA analysis of the human methionine synthase gene, Human Molecular Genetics 5 (1996), 1851-1858.
33. H. Morita, H. Kurihara, T. Sugiyama, C. Hamada, Y. Kurihara, T. Shindo, Y. Ohhashi and Y. Yazaki, Polymorphism of the methionine synthase gene. Association with homocysteine metabolism and lateonset vascular diseases in the Japanese population, Arteriosclerosis, Thrombosis, and Vascular Biology 19 (1999), 298-302.
34. J.M. Conroy, G. Trivedi, T. Sovd and M. Caggana, The allele frequency of mutations in four genes that confer enhanced susceptibility to venous thromboembolism in and unselected group of New York state newborns, Thrombosis Research 99 (2000), 317-324.
35. H.L. Zhao, X.Q. Li, Z.X. Zhang, X.H. Bi, B. Wang and J.W. Zhang, Association analysis ofmethionine synthase gene 2756 A>G polymorphism and Alzheimer disease in a Chinese population, Brain Research 1204 (2008), 118-122.
36. N. Sirachainan, S. Wongruangsri, S. Kajanachumpol, S. Pakakasama, A. Visudtibhan, I. Nuchprayoon, A. Lusawat, S. Phudhicharoenrat, S. Shuangshoti and S. Hongeng, Folate pathway genetic polymorphisms and susceptibility of central nervous system tumors in Thai children, Cancer Detection and Prevention 32 (2008), 72-78.
37. H.N. Kim, Y.K. Kim, I.K. Lee, J.J. Lee, D.H. Yang, K.S. Park, J.S. Choi, M.R. Park, D.Y. Jo and H.J. Kim, Polymorphisms involved in the folate metabolizing pathway and risk of multiple myeloma, American Journal of Hematology 82 (2007), 798-801.
38. M. Shekari, R.C. Sobti, D.M.K. Tamandani and V. Suri, Impact of methylenetetrahydrofolate reductase (MTHFR) codon (677) and methionine synthase (MS) codon (2756) on risk of cervical carcinogenesis in North Indian population, Archives of Gynecology and Obstetrics 278 (2008), 517-524.
39. N. Ranjith, R.J. Pegoraro and L. Rom, Risk factors and methylenetetrahydrofolate reductase gene polymorphisms in a young South African Indianbased population with acute myocardial infarction, Cardiovascular Journal of South Africa 14 (2003), 127-132.
40. J.C. Chambers, H. Ireland, E. Thompson, P. Reilly, O.A. Obeid, H. Refsum, P. Ueland, D.A. Lane and J.S. Kooner, Methylenetetrahydrofolate reductase 677 C}T mutation and coronary heart disease risk in UK Indian Asians, Arteriosclerosis, Thrombosis, and Vascular Biology 20 (2000), 2448-2452.
41. H.Morita, H. Kurihara, S. Tsubaki, T. Sugiyama, C. Hamada, Y. Kurihara, T. Shindo, Y. Ohhashi, K. Kitamura and Y. Yazaki, Methylenetetrahydrofolate reductase gene polymorphism and ischemic stroke in Japanese, Arteriosclerosis, Thrombosis, and Vascular Biology 18 (1998), 1465-1469.
42. J.H. Zhang, R.B. Zotz, Y. Li, R. Wang, S. Kiel, W.A. Schulz, D. Wen, Z.F. Chen, L.W. Zhang, S.J. Wang, H.E. Gabbert and M. Sarbia, Methylenetetrahydrofolate reductase C677T polymorphism and predisposition towards esophageal squamous cell carcinoma in a German Caucasian and a northern Chinese population, Journal of Cancer Research and Clinical Oncology 130 (2004), 574-580.
43. R.Z. StolzenbergSolomon, Y.L. Qiao, C.C. Abnet, D.L. Ratnasinghe, S.M. Dawsey, Z.W. Dong, P.R. Taylor and S.D. Mark, Esophageal and gastric cardia cancer risk and folateand vitamin B12related polymorphisms in Linxian, China, Cancer Epidemiology, Biomarkers and Prevention 12 (2003), 1222-1226.
44. X.P. Miao, D.Y. Xing, W. Tan, J. Qi, W.F. Lu and D.X. Lin, Susceptibility to gastric cardia adenocarcinoma and genetic polymorphisms in methylenetetrahydrofolate reductase in an atrisk Chinese population, Cancer Epidemiology, Biomarkers and Prevention 11 (2002), 1454-1458.
45. L.N. Mu, W. Cao, Z.F. Zhang, L. Cai, Q.W. Jiang, N.C. You, B.Y. Goldstein, G.R. Wei, C.W. Chen, Q.Y. Lu, X.F. Zhou, B.G. Ding, J. Chang and S.Z. Yu, Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and the risk of primary Hepatocellular Carcinoma (HCC) in a Chinese population, Cancer Causes and Control 18 (2007), 665-675.
46. H.B. Shen, Y.C. Xu, Y.X. Zheng, Y. Qian, R.B. Yu, Y. Qin, X.R.Wang,M.R. Spitz and Q.Y.Wei, Polymorphisms of 5,10methylenetetrahydrofolate reductase and risk of gastric cancer in a Chinese population: a casecontrol study, International Journal of Cancer 95 (2001), 332-336.
47. C.Y. Song, D.Y. Xing, W. Tan, Q.Y. Wei and D.X. Lin, Methylenetetrahydrofolate reductase polymorphisms increase risk of esophageal squamous cell carcinoma in a Chinese population, Cancer Research 61 (2001), 3272-3275.
48. Y.Z. Zheng, J. Tong, X.P. Do, X.Q. Pu and B.T. Zhou, Prevalence of methylenetetrahydrofolate reductase C677T and its association with arterial and venous thrombosis in the Chinese population, British Journal of Haematology 109 (2000), 870-874.
49. C. Papoutsakis, N.Yiannakouris, Y.Manios, E. Papaconstantinou, F. Magkos, K.H. Schulpis, A. Zampelas and A.L. Matalas, The effect of MTHFR (C677T) genotype on plasma homocysteine concentrations in healthy children is influenced by gender, European Journal of Clinical Nutrition 60 (2006), 155-162.
50. R. Rozen, F.C. Fraser and G. Shaw, Decreased proportion of female newborn infants homozygous for the 677 C}T mutation in methylenetetrahydrofolate reductase, American Journal of Medical Genetics 83 (1999), 142-143.
51. H. Reddy and K. Jamil, Polymorphisms in the MTHFR gene and their possible association with susceptibility to childhood acute lymphocytic leukemia in an Indian population, Leukemia and Lymphoma 47 (2006), 1333-1339.
52. J.R. Ruiz, R. Sola, M. GonzalezGross, F.B. Ortega, G. VicenteRodriguez, M. GarciaFuentes, A. Gutierrez, M. Sjostrom, K. Pietrzik andM.J. Castillo, Cardiovascular fitness is negatively associated with homocysteine levels in female adolescents, Archives of Pediatrics and Adolescent Medicine 161 (2007), 166-171.
53. W.L. Zhu, Y. Li, L.Y. Yan, J.J. Dao and S.Q. Li, Maternal and offspring MTHFR gene C677T polymorphism as predictors of congenital atrial septal defect and patent ductus arteriosus, Molecular Human Reproduction 12 (2006), 51-54.
54. L.D. Botto and Q.H. Yang, 5, 10Methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGE review, American Journal of Epidemiology 151 (2000), 862-877.
55. W.L.Nelen, E.A. Steegers, T.K. Eskes and H.J. Blom, Genetic risk factor for unexplained recurrent early pregnancy loss, Lancet 350 (1997), 861.
56. E. MunozMoran, J.L. DieguezLucena, N. FernandezArcas, S. PeranMesa and A. ReyesEngel, Genetic selection and folate intake during pregnancy, Lancet 352 (1998), 1120-1121.
57. L.E. Kelemen, S.S. Anand, R.A. Hegele, M.J. Stampfer, B. Rosner, W.C. Willett, P.A. Montague, E. Lonn, V. Vuksan, K.K. Teo, S. Devanesen and S. Yusuf, Associations of plasma homocysteine and the methylenetetrahydrofolate reductase C677T polymorphism with carotid intima media thickness among South Asian, Chinese and European Canadians, Atherosclerosis 176 (2004), 361-370.
58. V. Herbert, Staging vitamin B12 (cobalamin) status in vegetarians, American Journal of Clinical Nutrition 59(suppl) (1994), 1213S-1222S.
59. T.A. Sanders, The nutritional adequacy of plantbased diet, Proceedings of the Nutrition Society 58 (1999), 265-269.
60. H. Refsum, C.S.Yajnik,M.Gadkari, J. Schneede, S.E.Vollset, L. Orning, A.B. Guttormsen, A. Joglekar, M.G. Sayyad, A. Ulvik and P.M. Ueland, Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians, American Journal of Clinical Nutrition 74 (2001), 233-241.
61. M. Linnebank, K. Fliessbach, H. Kolsch, M. Rietschel and U. Wullner, The methionine synthase polymorphism c.2756A→G (D919G) is relevant for diseasefree longevity, International Journal of Molecular Medicine 16 (2005), 759-761.
62. K. Hughes and C.N. Ong, Homocysteine, folate, vitamin B12, and cardiovascular risk in Indians, Malays, and Chinese in Singapore, Journal of Epidemiology and Community Health 54 (2000), 31-34.
63. G.Y.H. Ho, J.W. Eikelboom, G.J. Hankey, C.R. Wong, S.L. Tan, J.B.C. Chan and C.P.L.H. Chen, Methylenetetrahydrofolate reductase polymorphisms and homocysteinelowering effect of vitamin therapy in Singaporean stroke patients, Stroke 37 (2006), 456-460.
64. J.S. Lin, M.C. Shen, W.C. Cheng, W. Tsay, Y.C. Wang, B.B. Lin and M.H. Hung, Age, sex and vitamin status affect plasma level of homocysteine, but hyperhomocysteinaemia is possibly not an important risk factor for venous thrombophilia in Taiwanese Chinese, British Journal of Haematology 117 (2002), 159-163.
65. S.M. Saw, J.M. Yuan, C.N. Ong, K. Arakawa, H.P. Lee, G.A. Coetzee and M.C. Yu, Genetic, dietary, and other lifestyle determinants of plasma homocysteine concentrations in middleaged and older Chinese men and women in Singapore, American Journal of Clinical Nutrition 73 (2001), 232-239.
66. J.C. Chambers, O.A. Obeid, H. Refsum, P. Ueland, D. Hackett, J. Hooper, R.M. Turner, S.G. Thompson and J.S. Kooner, Plasma homocysteine concentrations and risk of coronary heart disease in UK Indian Asian and European men, The Lancet 355 (2000), 523-527.
67. L. Feng, T.P. Ng, L. Chuah, M. Niti and E.H. Kua, Homocysteine, folate, and vitamin B12 and cognitive performance in older Chinese adults: findings from the Singapore Longitudinal Ageing Study, American Journal of Clinical Nutrition 84 (2006), 1506-1512.