Abstract
A methylenetetrahydrofolate reductase polymorphism (677 C/T mutation) was recently implicated in the etiology of Down syndrome. We studied a cohort of 85 women carrying fetuses with Down syndrome and found no difference in the frequencies of the three groups of subjects (C/C, C/T, T/T) between Down syndrome mothers and controls.
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
Abbreviations
- DS:
-
Down syndrome
- MTHFR:
-
methylenetetrahydrofolate reductase
References
James SJ, Pogribna M, Pogribny IP, Melnyk S, Hine RJ, Gibson JB, Yi P, Tafoya DL, Swenson DH, Wilson VL, Gaylor DW 1999 Abnormal folate metabolism mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 70: 495–501
Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binker F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M, Cohen MM, Roulson D, Schwartz S, Mikkelsen M, Tranebjaerg L, Greenberg F, Hoar DI, Rudd NL, Warren AC, Metaxotou C, Bartsocas C, Chakravati A 1992 The meiotic stage of non disjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet 50: 544–550
Goyette P, Summer JS, Milos R, Duncan AM, Rosenblatt DS, Mattews RG, Rozen R 1994 Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping mutation identification. Nat Genet 7: 195–200
Hobbs CA, Sherman SL, Yi P, Hopkins SE, Torfs CP, Hine RJ, Pogribna M, Rozen James SJ 2000 Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 67: 623–630
Jacques PF, Boston AG, Williams RR, Ellison RC, Eckfeldt JH, Rosengerg IH, Selhub J, Rosen R 1996 Relation between folate, a common mutation in methylenetetrahydrofolate reductase, plasma homocysteine concentrations. Circulation 93: 7–9
Author information
Authors and Affiliations
Corresponding author
Additional information
Supported by the Association Française pour la Recherche sur la Trisomie 21 and the Institut de Recherches Internationales Servier.
Rights and permissions
About this article
Cite this article
Chadefaux-Vekemans, B., Coudé, M., Muller, F. et al. Methylenetetrahydrofolate Reductase Polymorphism in the Etiology of Down Syndrome. Pediatr Res 51, 766–767 (2002). https://doi.org/10.1203/00006450-200206000-00018
Received:
Accepted:
Issue date:
DOI: https://doi.org/10.1203/00006450-200206000-00018
This article is cited by
-
Maternal MTHFR polymorphism (677 C–T) and risk of Down’s syndrome child: meta-analysis
Journal of Genetics (2016)
-
Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome
Molecular Biology Reports (2013)


