Abstract
The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21, compared to control mothers. In order to confirm this association, we studied the presence of the C677T in 64 mothers of Down syndrome children and 112 controls from central Italy. An higher incidence of the mutant T allele in controls (48.2%) than in Down syndrome children mothers (44%) was detected. These results do not support the presence of an increased risk of Down syndrome in mothers carriers of the T allele in the Italian population.
Similar content being viewed by others
Log in or create a free account to read this content
Gain free access to this article, as well as selected content from this journal and more on nature.com
or
References
Finkelstein JD . Methionine metabolism in mammals J Nutr Biochem 1990 1: 228–237
Frosst P, Blom HJ, Milos R et al. A candidate genetic risk for vascular disease: a common mutation in methylenetetrahydrofolate reductase Nat Genet 1995 10: 111–113
Van der Put NM, Steegers-Theunissen RPM, Frosst P et al. Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida Lancet 1995 346: 1070–1071
Kirke PN, Mills JL, Whitehead AS, Molloy A, Scott JM . Methylenetetrahydrofolate reductase mutation and neural tube defects Lancet 1996 348: 1037–1038
De Franchis R, Buoninconti A, Mandato C et al. The C677T mutation of the 5,10- methylenetetrahydrofolate reductase gene is a moderate risk factor for spina bifida in Italy J Med Genet 1998 35: 1009–1013
Bezold G, Lange M, Peter RU . Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility N Engl J Med 2001 344: 1172–1173
Mornet E, Muller F, Lenvoise-Furet A et al. Screening of the C677T mutation on the methylenetetrahydrofolate reductase gene in French patients with neural tube defects Hum Genet 1997 100: 512–514
Speer MC, Warley G, Mackey JF, Melvin E, Oakes JW, George TM the NTD Collaborative Group. The thermolabile variant of methylenetetrahydrofolate reductase (MTHFR) is not a major risk factor for neural tube defects in American Caucasians Neurogenetics 1997 1: 149–150
Wetkamp LR, Tackels DC, Hunter AGW, Holmes LB, Schwartz CE . Heterozygote advantage of the MTHFR gene in patients with neural-tube defects and their relatives Lancet 1998 351: 1554–1555
Papapetrou C, Lynch SA, Burn J, Edwards YM . Methylenetetrahydrofolate reductase and neural tube defects Lancet 1996 348: 58
James SJ, Pogribna M, Pogribny IP et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome Am J Clin Nutr 1999 70: 495–501
Hobbs CA, Sherman SL, Yi P et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome Am J Hum Genet 2000 67: 623–630
Hassold TJ, Burrage LC, Chan ER et al. Maternal folate polymorphisms and the etiology of human nondisjunction Am J Hum Genet 2001 69: 434–439
Sacchi E, Tagliabue L, Duca F, Mannucci PM . High frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in Northern Italy Thromb Haemost 1997 78: 963–964
Tosetto A, Missiaglia E, Frezzato M, Rodeghiero F . The VITA project: C677T mutation in the methylenetetrahydrofolate reductase gene and risk of venous thromboembolism Br J Haematol 1997 97: 804–806
De Franchis R, Sebastio G, Mandato C, Andria G, Mastroaicovo P . Spina bifida, 677C->T mutation, and the role of folate Lancet 1995 346: 1073
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Stuppia, L., Gatta, V., Gaspari, A. et al. C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy. Eur J Hum Genet 10, 388–390 (2002). https://doi.org/10.1038/sj.ejhg.5200819
Received:
Revised:
Accepted:
Published:
Issue date:
DOI: https://doi.org/10.1038/sj.ejhg.5200819
Keywords
This article is cited by
-
Genetic aetiology of Down syndrome birth: novel variants of maternal DNMT3B and RFC1 genes increase risk of meiosis II nondisjunction in the oocyte
Molecular Genetics and Genomics (2023)
-
Synthetic combinations of missense polymorphic genetic changes underlying Down syndrome susceptibility
Cellular and Molecular Life Sciences (2016)
-
Maternal MTHFR polymorphism (677 C–T) and risk of Down’s syndrome child: meta-analysis
Journal of Genetics (2016)
-
Meta-analysis of Methylenetetrahydrofolate reductase maternal gene in Down syndrome: increased susceptibility in women carriers of the MTHFR 677T allele
Molecular Biology Reports (2014)
-
Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome
Molecular Biology Reports (2013)
