Evaluation of nutritional and genetic determinants of total homocysteine, methylmalonic acid and S-adenosylmethionine/S-adenosylhomocysteine values in Brazilian childbearing-age women

Clinica Chimica Acta

Volumn 388, Issue 1-2, 2008, Pages 139-147

  Barbosa, Patrícia R ^a   Stabler, Sally P ^b   Trentin, Renata ^a   Carvalho, Felipe R ^a   Luchessi, André D ^a   Hirata, Rosario D C ^a   Hirata, Mario H ^a   Allen, Robert H ^b   Guerra Shinohara, Elvira M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

Cobalamin; Folate; Homocysteine; Methylmalonic acid; Polymorphisms; Women

Indexed keywords

2 AMINOBUTYRIC ACID; COBALAMIN; FERRITIN; FOLIC ACID; HOMOCYSTEINE; METHYLMALONIC ACID; S ADENOSYLHOMOCYSTEINE; S ADENOSYLMETHIONINE; SARCOSINE; SERINE;

ADULT; ARTICLE; COBALAMINE DEFICIENCY; CONTROLLED STUDY; FEMALE; FOLIC ACID DEFICIENCY; GENETIC POLYMORPHISM; GENOTYPE; HEREDITY; HUMAN; IRON DEFICIENCY; NORMAL HUMAN; NUTRITION; NUTRITIONAL DEFICIENCY; POLYMERASE CHAIN REACTION; PREGNANCY; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ADULT; AGING; ALLELES; ANEMIA, IRON-DEFICIENCY; AVITAMINOSIS; BRAZIL; FEMALE; GENOTYPE; HOMOCYSTEINE; HUMANS; METHYLMALONIC ACID; NUTRITION PHYSIOLOGY; POLYMORPHISM, GENETIC; REPRODUCTION; S-ADENOSYLHOMOCYSTEINE; S-ADENOSYLMETHIONINE; VITAMIN B 12; VITAMINS;

EID: 37249012033     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cca.2007.10.023     Document Type: Article

References (49)

1. Allen L.H. Multiple micronutrients in pregnancy and lactation: an overview. Am J Clin Nutr 81 (2005) 1206S-1212S
2. Guerra-Shinohara E.M., Morita O.E., Peres S., et al. Low ratio of S-adenosylmethionine/S-adenosylhomocysteine is associated with vitamin deficiency in Brazilian pregnant women and newborns. Am J Clin Nutr 80 (2004) 1312-1321
3. Guerra-Shinohara E.M., Morita O.E., Pagliusi R.A., et al. Elevated serum S-adenosylhomocysteine in cobalamin deficient megaloblastic anemia. Metabolism 56 (2007) 339-347
4. Finkelstein J.D. Methionine metabolism in mammals. J Nutr Biochem 1 (1990) 228-237
5. Cook R.J. Folate metabolism. In: Carmel R., and Jacobsen D.W. (Eds). Homocysteine in Health and Disease (2001), Cambridge University Press, Cambridge 113-134
6. Gaughan D.J., Kluijtmans L.A.J., Barbaux S., et al. The methionine synthase reductase (MTRR) A66G polymorphism is a novel genetic determinant of plasma homocysteine concentrations. Atherosclerosis 157 (2001) 451-456
7. Harmon D.L., Shields D.C., Woodside J.V., et al. Methionine synthase D919G polymorphism is a significant but modest determinant of circulating homocysteine concentrations. Genet Epidemiol 17 (1999) 298-309
8. Chen J., Stampfer M.J., Ma J., et al. Influence of a methionine synthase (D919G) polymorphism on plasma homocysteine and folate levels and relation to risk of myocardial infarction. Atherosclerosis 154 (2001) 667-672
9. Russo G.T., Friso S., Jacques P.F., 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 (2003) 3416-3421
10. Pereira A.C., Schettert I.S., Morandini Filho A.A.F., Guerra-Shinohara E.M., and Krieger J.E. Methylenetetrahydrofolate reductase (MTHFR) c677t gene variant modulates the homocysteine folate correlation in a mild folate-deficient population. Clin Chim Acta 340 (2004) 99-105
11. Miller J.W., Ramos M.I., Garrod M.G., Flynn M.A., and Green R. Transcobalamin II 775G>C polymorphism and indices of vitamin B12 status in healthy older adults. Blood 15 (2002) 718-720
12. Afman L.A., Lievers K.J., van der Put N.M., Trijbels F.J., and Blom H.J. Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. Eur J Hum Genet 10 (2002) 433-438
13. Trentin R., Stabler S.P., Hirata M.H., et al. Influence of TC2 I23V polymorphism on homocysteine and SAM levels in pregnant women. Haematol Rep 1 (2005) 13 (Abstract)
14. Morin I., Devlin A.M., Leclerc D., et al. Evaluation of genetic variants in the reduced folate carrier and in glutamate carboxipeptidase II for spina bifida risk. Mol Genet Metab 79 (2003) 197-200
15. Chango A., Emery-Fillon N., de Courcy G.P., et al. A polymorphism (80G->A) in the reduced folate carrier gene and its associations with folate status and homocysteinemia. Mol Genet Metab 70 (2000) 310-315
16. Födinger M., Dierkes J., Skoupis S., et al. Effect of glutamate carboxypeptidase II and reduced folate carrier polymorphisms on folate and total homocysteine concentrations in dialysis patients. J Am Soc Nephrol 14 (2003) 1314-1319
17. Devlin A.M., Clarke R., Birks J., Evans J.G., and Halsted C.H. Interactions among polymorphisms in folate-metabolizing genes and serum total homocysteine concentrations in healthy elderly population. Am J Clin Nutr 83 (2006) 708-713
18. 12) and folate deficiencies. FASEB J 7 (1993) 1344-1353
19. Savage D.G., Lindenbaum J., Stabler S.P., and Allen R.H. Sensitivity of serum methylmalonic acid and total homocysteine determinations for diagnosing cobalamin and folate deficiencies. Am J Med 96 (1994) 239-246
20. Stabler S.P., Lindenbaum J., Savage D.G., and Allen R.H. Elevation of serum cystathionine levels in patients with cobalamin and folate deficiency. Blood 81 (1993) 3104-3113
21. Allen R.H., Stabler S.P., and Lindenbaum J. Serum betaine, N-N-dimethylglycine and N-methylglycine levels in patients with cobalamin and folate deficiency and related inborn errors of metabolism. Metabolism 42 (1993) 1448-1460
22. Eichholzer M., Tönz O., and Zimmermann R. Folic acid: a public-health challenge. Lancet 367 (2006) 1352-1361
23. Agência Nacional de Vigilância Sanitária do Brasil. RDC No 344, de 13 de dezembro de 2002. http://e-legis.anvisa.gov.br/leisref/public.
24. Barbosa P.R., Stabler S.P., Machado A.L.K., et al. Association between decreased vitamin levels and MTHFR, MTR and MTRR gene polymorphisms as determinant for elevated total homocysteine concentrations in pregnant women. Eur J Clin Nutr (May 23 2007) [Electronic publication ahead of print]
25. Stabler S.P., Marcell P.D., Podell E.R., et al. Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry. J Clin Invest 77 (1986) 1610-1612
26. Stabler S.P., Marcell P.D., Podell E.R., Allen R.H., Savage D.G., and Lindenbaum J. Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry. J Clin Invest 81 (1988) 466-474
27. Allen R.H., Stabler S.P., Savage D.G., and Lindenbaum J. Elevation of 2-methylcitric acid I and II levels in serum, urine and cerebrospinal fluid of patients with cobalamin deficiency. Metabolism 42 (1993) 978-988
28. Stabler S.P., and Allen R.H. Quantification of serum and urinary S-adenosylmethionine and S-adenosylhomocysteine by stable-isotope-dilution liquid chromatography-mass spectrometry. Clin Chem 50 (2004) 365-372
29. Salazar L.A., Hirata M.H., Cavalli A.S., Machado M.O., and Hirata R.D.C. Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testings. Clin Chem 44 (1998) 1748-1750
30. Frosst P., Blom H.J., Milos R., et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase (MTHFR). Nat Genet 10 (1995) 1111-1113
31. van der Put N.M., Gabreels F., Stevens E.M., et al. A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural tube defects?. Am J Hum Genet 62 (1998) 1044-1051
32. Stabler S.P., Lindenbaum J., and Allen R.H. The use of homocysteine and other metabolites in the specific diagnosis of vitamin B12 deficiency. J Nutr 126 (1996) 1266S-1272S
33. Cook J.D. Adaptation in iron metabolism. Am J Clin Nutr 51 (1990) 301-308
34. 12. BJOG 109 (2002) 784-791
35. Lindblad B. Folate, vitamin B12, and homocysteine levels in South Asian women with growth-retarded fetuses. Acta Obstet Gynecol 84 (2005) 1055-1061
36. Adams Jr. M.J., Khoury M.J., Scanlon K.S., et al. Elevated midtrimester serum methylmalonic acid levels as a risk factor for neural tube defects. Teratology 51 (1995) 311-317
37. Christensen B., Arbour L., Tran P., et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase folate levels in red blood cells and risk of neural tube defects. Am J Med Genet 84 (1999) 151-157
38. Fillon-Emery N., Chango A., Mircher C., et al. Homocysteine concentrations in adults with trisomy 21: effect of B vitamins and genetic polymorphisms. Am J Clin Nutr 80 (2004) 1551-1557
39. Cunha A.L., Hirata M., Kim C.A., Guerra-Shinohara E.M., Nonoyama K., and Hirata R.D.C. Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with Neural Tube Defects. Clin Chim Acta 318 (2002) 139-143
40. Perez A.B.A., D'Almeida V., Vergani N., Oliveira A.C., Lima F.T., and Brunoni D. Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in Spina Bifida. Am J Med Genet 119 (2003) 20-25
41. Alessio A.C., Annichino-Bizzacchi J.M., Bydlowski S.P., Eberlin M.N., Vellasco A.P., and Hoehr N.F. Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children. Am J Med Genet 128 (2004) 256-260
42. Jacques P.F., Bostom A.G., Selhub J., et al. Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study. Atherosclerosis 166 (2003) 49-55
43. Wilson A., Platt R., Wu Q., et al. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab 67 (1999) 317-323
44. Lievers K.J., Afman L.A., Kluijtmans L.A., et al. Polymorphisms in the transcobalamin gene: association with plasma homocysteine in healthy individuals and vascular disease patients. Clin Chem 48 (2002) 1383-1389
45. Shaw G.M., Lammer E.J., Zhu H., Bker M.W., Neri E., and Finnell R.H. Maternal periconceptional vitamin use, genetic variation of infant reduced folate carrier (A80G), and risk of spina bifida. Am J Med Genet 108 (2002) 1-6
46. Carmel R., Mallidi P.V., Vinarskiy S., Brar S., and Frouhar Z. Hyperhomocysteinemia and cobalamin deficiency in young Asian Indians in the United States. Am J Hematol 70 (2002) 107-114
47. Carmel R. Ethnic and racial factors in cobalamin and its disorders. Semin Hematol 36 (1999) 88-100
48. Stabler S.P., Allen R.H., Fried L.P., et al. Racial differences in prevalence of cobalamin and folate deficiencies in disable elderly women. Am J Clin Nutr 70 (1999) 911-919
49. Herbert V. Development of human folate deficiency. In: Picciano M.F., Stokstad E.L.R., and Gregory II J.F. (Eds). Folic acid metabolism in health and disease (1989), Wiley Liss, New York 195-200