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MTRR and MTHFR polymorphism: link to Down syndrome?
Am J Med Genet 2002; 107(2):151-5AJ

Abstract

Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) have been linked to the etiology of Down syndrome. We examined the prevalence of these variant genotypes in mothers who had given birth to a child with Down syndrome (n = 48) and in control mothers (n = 192), and investigated the biochemical factors influenced by the presence of MTRR A66G and MTHFR C677T. The frequency of the MTRR variant genotypes (AG, GG) was significantly higher in mothers of children with Down syndrome compared to controls (P = 0.0028). MTHFR C677T genotype frequencies were not significantly altered in mothers of children with Down syndrome (P = 0.74). However, mothers who had a MTHFR CT or TT genotype and a MTRR GG genotype had a 2.98-fold increased risk of having a child with Down syndrome (P = 0.02). The MTRR polymorphism did not increase plasma homocysteine. Higher homocysteine was found with the presence of the MTHFR T allele. In conclusion, MTRR A66G is significantly more common in mothers of children with Down syndrome but does not appear to increase the risk for Down syndrome by changing homocysteine metabolism. Women who have both the MTRR and MTHFR variant genotypes are also at increased risk of producing offspring with Down syndrome.

Authors+Show Affiliations

Department of Biochemistry, Trinity College, Dublin, Ireland.No affiliation info availableNo affiliation info availableNo 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

11807890

Citation

O'Leary, Valerie B., et al. "MTRR and MTHFR Polymorphism: Link to Down Syndrome?" American Journal of Medical Genetics, vol. 107, no. 2, 2002, pp. 151-5.
O'Leary VB, Parle-McDermott A, Molloy AM, et al. MTRR and MTHFR polymorphism: link to Down syndrome? Am J Med Genet. 2002;107(2):151-5.
O'Leary, V. B., Parle-McDermott, A., Molloy, A. M., Kirke, P. N., Johnson, Z., Conley, M., ... Mills, J. L. (2002). MTRR and MTHFR polymorphism: link to Down syndrome? American Journal of Medical Genetics, 107(2), pp. 151-5.
O'Leary VB, et al. MTRR and MTHFR Polymorphism: Link to Down Syndrome. Am J Med Genet. 2002 Jan 15;107(2):151-5. PubMed PMID: 11807890.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MTRR and MTHFR polymorphism: link to Down syndrome? AU - O'Leary,Valerie B, AU - Parle-McDermott,Anne, AU - Molloy,Anne M, AU - Kirke,Peadar N, AU - Johnson,Zachary, AU - Conley,Mary, AU - Scott,John M, AU - Mills,James L, PY - 2002/1/25/pubmed PY - 2002/2/14/medline PY - 2002/1/25/entrez SP - 151 EP - 5 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 107 IS - 2 N2 - Polymorphisms in genes encoding the folate metabolizing enzymes methylenetetrahydrofolate reductase (MTHFR C677T) and methionine synthase reductase (MTRR A66G) have been linked to the etiology of Down syndrome. We examined the prevalence of these variant genotypes in mothers who had given birth to a child with Down syndrome (n = 48) and in control mothers (n = 192), and investigated the biochemical factors influenced by the presence of MTRR A66G and MTHFR C677T. The frequency of the MTRR variant genotypes (AG, GG) was significantly higher in mothers of children with Down syndrome compared to controls (P = 0.0028). MTHFR C677T genotype frequencies were not significantly altered in mothers of children with Down syndrome (P = 0.74). However, mothers who had a MTHFR CT or TT genotype and a MTRR GG genotype had a 2.98-fold increased risk of having a child with Down syndrome (P = 0.02). The MTRR polymorphism did not increase plasma homocysteine. Higher homocysteine was found with the presence of the MTHFR T allele. In conclusion, MTRR A66G is significantly more common in mothers of children with Down syndrome but does not appear to increase the risk for Down syndrome by changing homocysteine metabolism. Women who have both the MTRR and MTHFR variant genotypes are also at increased risk of producing offspring with Down syndrome. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/11807890/MTRR_and_MTHFR_polymorphism:_link_to_Down_syndrome L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=2002&volume=107&issue=2&spage=151 DB - PRIME DP - Unbound Medicine ER -