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Titolo:
Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population
Autore:
Richter, B; Stegmann, K; Roper, B; Boddeker, I; Ngo, ETKM; Koch, MC;
Indirizzi:
Zentrum Humangenet, D-35037 Marburg, Germany Zentrum Humangenet Marburg Germany D-35037 net, D-35037 Marburg, Germany Univ Marburg, Zentrum Methodenwissensch & Gesundheitsforsch, Inst Med Biometrie & Epidemiol, Marburg, Germany Univ Marburg Marburg Germany ed Biometrie & Epidemiol, Marburg, Germany
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 46, anno: 2001,
pagine: 105 - 109
SICI:
1434-5161(2001)46:3<105:IOFAHP>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
CYSTATHIONINE BETA-SYNTHASE; METHYLENETETRAHYDROFOLATE REDUCTASE MTHFR; SPINA-BIFIDA; RISK FACTOR; THERMOLABILE VARIANT; FOLIC-ACID; COMMON MUTATION; LINKAGE DISEQUILIBRIUM; GENETIC-VARIATION; VASCULAR-DISEASE;
Keywords:
neural tube defects; MTHFR 677C -> T; MTHFR 1298A -> C; cystathionine beta-synthase; CBS 844ins68; genotype interaction;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Koch, MC Zentrum Humangenet, Bahnhofstr 7, D-35037 Marburg, Germany Zentrum Humangenet Bahnhofstr 7 Marburg Germany D-35037 Germany
Citazione:
B. Richter et al., "Interaction of folate and homocysteine pathway genotypes evaluated in susceptibility to neural tube defects (NTD) in a German population", J HUM GENET, 46(3), 2001, pp. 105-109

Abstract

Neural tube defects (NTD) are likely to result from an interaction of several genes and environmental factors. Because periconceptional folate intakereduces 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 polymorphismsand 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 theCBS 844ins68 allele in carriers of MTHFR variants.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 00:03:25