Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects

APC Brandalize, E Bandinelli… - American journal of …, 2009 - Wiley Online Library
Abnormal folate/homocysteine metabolism due to polymorphisms in genes involved in this
pathway has been implicated as an etiologic factor in Down syndrome (DS). This case …

Folate gene polymorphisms and the risk of Down syndrome pregnancies in young Italian women

F Coppedè, G Marini, S Bargagna… - American journal of …, 2006 - Wiley Online Library
Maternal impairments in folate metabolism and elevated homocysteinemia are known risk
factors for having a child with Down syndrome (DS) at a young age. The 80G> A …

Maternal MTR genotype contributes to the risk of non‐syndromic cleft lip and palate in the Polish population

A Mostowska, KK Hozyasz, PP Jagodzinski - Clinical genetics, 2006 - Wiley Online Library
The aetiology of non‐syndromic cleft lip with or without cleft palate (CL/P) is very complex. It
has been shown that polymorphic variants of genes encoding key proteins of folate and …

[HTML][HTML] MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers

AK Rai, S Singh, S Mehta, A Kumar… - Journal of human …, 2006 - nature.com
Abstract Down's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly
from nondisjunction in maternal meiosis. The present case-control study examined the …

Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis

X Wu, X Wang, Y Chan, S Jia, Y Luo, W Tang - European Journal of …, 2013 - Elsevier
OBJECTIVES: MTHFR C677T and A1298C have been associated with the risk of having an
infant with Down syndrome (DS), but results were conflicting. We performed this meta …

[HTML][HTML] Folate metabolism and the risk of Down syndrome

D Patterson - Down Syndrome Research and Practice, 2008 - down-syndrome.org
Folate is an important vitamin that contributes to cell division and growth and is therefore of
particular importance during infancy and pregnancy. Folate deficiency has been associated …

[HTML][HTML] The effect of 1 mg folic acid supplementation on clinical outcomes in female migraine with aura patients

S Menon, B Nasir, N Avgan, S Ghassabian… - The journal of headache …, 2016 - Springer
Background Migraine is a common neurovascular condition that may be linked to
hyperhomocysteinemia. We have previously provided evidence that reduction of …

[PDF][PDF] Genetic polymorphisms involved in folate metabolism and elevated plasma concentrations of homocysteine: maternal risk factors for Down syndrome in Brazil

JM Biselli, EM Goloni-Bertollo, BL Zampieri… - Genet Mol …, 2008 - geneticsmr.com
The aim of the present study was to investigate the effect of polymorphisms C677T and
A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine …

Maternal gene polymorphisms involved in folate metabolism and the risk of having a Down syndrome offspring: a meta-analysis

M Yang, T Gong, X Lin, L Qi, Y Guo, Z Cao… - …, 2013 - academic.oup.com
Down syndrome (DS) is the most common chromosomal abnormality. Many studies have
assessed the association between maternal gene polymorphisms involved in folate …

The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with …

ML Martínez‐Frías - American journal of medical genetics Part …, 2008 - Wiley Online Library
Studies on the structure of the methylenetetrahydrofolate reductase (MTHFR) gene and the
mechanisms by which folate may reduce homocysteine levels in bacteria and in humans …