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Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population.
J Hum Genet 2001; 46(3):105-9JH

Abstract

Neural tube defects (NTD) are likely to result from an interaction of several genes and environmental factors. Because periconceptional folate intake reduces the NTD risk in the fetus, and because mothers of children with NTD showed elevated plasma homocysteine levels, gene polymorphisms of the folate and homocysteine pathway, such as 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T, MTHFR 1298A-->C and cystathionine beta-synthase (CBS) 844ins68, have been implicated in the etiology of NTD. Several studies have demonstrated that these polymorphisms may indeed be associated with NTD in some populations. In order to evaluate the role of these polymorphisms and their interaction in NTD, we genotyped 417 individuals for case-control studies and 129 families for transmission disequilibrium tests. We are the first to present detailed data on MTHFR haploid genotypes in combination with CBS 844ins68. The MTHFR risk genotype 677CT/1298AC, known to be associated with decreased enzyme activity and increased homocysteine, was found significantly more often in patients than in controls (P = 0.02). A CBS insertion allele in addition to MTHFR 677CT/ 1298AC heterozygosity or MTHFR 677TT/1298AA homozygosity did not result in an increased risk for NTD. This is in agreement with the recently reported homocysteine-lowering effect of the CBS 844ins68 allele in carriers of MTHFR variants.

Authors+Show Affiliations

Zentrum für Humangenetik, Marburg, Germany.No affiliation info availableNo 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

11310576

Citation

Richter, B, et al. "Interaction of Folate and Homocysteine Pathway Genotypes Evaluated in Susceptibility to Neural Tube Defects (NTD) in a German Population." Journal of Human Genetics, vol. 46, no. 3, 2001, pp. 105-9.
Richter B, Stegmann K, Röper B, et al. Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. J Hum Genet. 2001;46(3):105-9.
Richter, B., Stegmann, K., Röper, B., Böddeker, I., Ngo, E. T., & Koch, M. C. (2001). Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. Journal of Human Genetics, 46(3), pp. 105-9.
Richter B, et al. Interaction of Folate and Homocysteine Pathway Genotypes Evaluated in Susceptibility to Neural Tube Defects (NTD) in a German Population. J Hum Genet. 2001;46(3):105-9. PubMed PMID: 11310576.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population. AU - Richter,B, AU - Stegmann,K, AU - Röper,B, AU - Böddeker,I, AU - Ngo,E T, AU - Koch,M C, PY - 2001/4/20/pubmed PY - 2001/5/25/medline PY - 2001/4/20/entrez SP - 105 EP - 9 JF - Journal of human genetics JO - J. Hum. Genet. VL - 46 IS - 3 N2 - Neural tube defects (NTD) are likely to result from an interaction of several genes and environmental factors. Because periconceptional folate intake reduces the NTD risk in the fetus, and because mothers of children with NTD showed elevated plasma homocysteine levels, gene polymorphisms of the folate and homocysteine pathway, such as 5,10-methylenetetrahydrofolate reductase (MTHFR) 677C-->T, MTHFR 1298A-->C and cystathionine beta-synthase (CBS) 844ins68, have been implicated in the etiology of NTD. Several studies have demonstrated that these polymorphisms may indeed be associated with NTD in some populations. In order to evaluate the role of these polymorphisms and their interaction in NTD, we genotyped 417 individuals for case-control studies and 129 families for transmission disequilibrium tests. We are the first to present detailed data on MTHFR haploid genotypes in combination with CBS 844ins68. The MTHFR risk genotype 677CT/1298AC, known to be associated with decreased enzyme activity and increased homocysteine, was found significantly more often in patients than in controls (P = 0.02). A CBS insertion allele in addition to MTHFR 677CT/ 1298AC heterozygosity or MTHFR 677TT/1298AA homozygosity did not result in an increased risk for NTD. This is in agreement with the recently reported homocysteine-lowering effect of the CBS 844ins68 allele in carriers of MTHFR variants. SN - 1434-5161 UR - https://www.unboundmedicine.com/medline/citation/11310576/Interaction_of_folate_and_homocysteine_pathway_genotypes_evaluated_in_susceptibility_to_neural_tube_defects__NTD__in_a_German_population_ L2 - http://www.diseaseinfosearch.org/result/8992 DB - PRIME DP - Unbound Medicine ER -