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Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children.
Am J Med Genet A 2008; 146A(20):2598-602AJ

Abstract

Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) and cystathionine beta-synthase (CBS) genes, involved in the intracellular metabolism of homocysteine (Hcy), can result in hyperhomocysteinemia. The objective of this study was to evaluate prevalence estimates of CBS T833C, G919A and the insertion of 68-bp (844ins68) polymorphisms and their correlation with Hcy, folate and B(12) in 220 children previously genotyped for MTHFR C677T, A1298C, and MTRR A66G. The prevalence of heterozygote children for 844ins68 was 19.5%. The T833C CBS mutation was identified in association with 844ins68 in all the carriers of the insertion. Genotyping for CBS G919A mutation showed that all the children presented the GG genotype. Analysis of Hcy, B(12) and folate, according to the combination of the different genotypes of the C677T and A1298C MTHFR, A66G MTRR, and 844ins68 CBS showed that the 677TT/1298AA/68WW genotype is associated with an increase in Hcy, when compared to the 677CC/1298AC/68WW (P = 0.033) and the 677CT/1298AA/68WW genotypes (P = 0.034). Since B(12) and folate were not different between these groups, a genetic interaction between diverse polymorphisms probably influences Hcy. Our results emphasize the role of genetic interactions in Hcy levels.

Authors+Show Affiliations

Faculty of Medical Sciences, Hematology-Hemotherapy Center, State University of Campinas, Campinas, SP, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

18792976

Citation

Aléssio, Ana C M., et al. "Polymorphisms in the CBS Gene and Homocysteine, Folate and Vitamin B12 Levels: Association With Polymorphisms in the MTHFR and MTRR Genes in Brazilian Children." American Journal of Medical Genetics. Part A, vol. 146A, no. 20, 2008, pp. 2598-602.
Aléssio AC, Siqueira LH, Bydlowski SP, et al. Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children. Am J Med Genet A. 2008;146A(20):2598-602.
Aléssio, A. C., Siqueira, L. H., Bydlowski, S. P., Höehr, N. F., & Annichino-Bizzacchi, J. M. (2008). Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children. American Journal of Medical Genetics. Part A, 146A(20), pp. 2598-602. doi:10.1002/ajmg.a.32496.
Aléssio AC, et al. Polymorphisms in the CBS Gene and Homocysteine, Folate and Vitamin B12 Levels: Association With Polymorphisms in the MTHFR and MTRR Genes in Brazilian Children. Am J Med Genet A. 2008 Oct 15;146A(20):2598-602. PubMed PMID: 18792976.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Polymorphisms in the CBS gene and homocysteine, folate and vitamin B12 levels: association with polymorphisms in the MTHFR and MTRR genes in Brazilian children. AU - Aléssio,Ana C M, AU - Siqueira,Lúcia H, AU - Bydlowski,Sérgio P, AU - Höehr,Nelci F, AU - Annichino-Bizzacchi,Joyce M, PY - 2008/9/17/pubmed PY - 2008/11/13/medline PY - 2008/9/17/entrez SP - 2598 EP - 602 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 146A IS - 20 N2 - Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR) and cystathionine beta-synthase (CBS) genes, involved in the intracellular metabolism of homocysteine (Hcy), can result in hyperhomocysteinemia. The objective of this study was to evaluate prevalence estimates of CBS T833C, G919A and the insertion of 68-bp (844ins68) polymorphisms and their correlation with Hcy, folate and B(12) in 220 children previously genotyped for MTHFR C677T, A1298C, and MTRR A66G. The prevalence of heterozygote children for 844ins68 was 19.5%. The T833C CBS mutation was identified in association with 844ins68 in all the carriers of the insertion. Genotyping for CBS G919A mutation showed that all the children presented the GG genotype. Analysis of Hcy, B(12) and folate, according to the combination of the different genotypes of the C677T and A1298C MTHFR, A66G MTRR, and 844ins68 CBS showed that the 677TT/1298AA/68WW genotype is associated with an increase in Hcy, when compared to the 677CC/1298AC/68WW (P = 0.033) and the 677CT/1298AA/68WW genotypes (P = 0.034). Since B(12) and folate were not different between these groups, a genetic interaction between diverse polymorphisms probably influences Hcy. Our results emphasize the role of genetic interactions in Hcy levels. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/18792976/Polymorphisms_in_the_CBS_gene_and_homocysteine_folate_and_vitamin_B12_levels:_association_with_polymorphisms_in_the_MTHFR_and_MTRR_genes_in_Brazilian_children_ L2 - https://doi.org/10.1002/ajmg.a.32496 DB - PRIME DP - Unbound Medicine ER -