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Low erythrocyte folate status and polymorphic variation in folate-related genes are associated with risk of neural tube defect pregnancy
Ist Teil von
Molecular genetics and metabolism, 2004-04, Vol.81 (4), p.273-281
Ort / Verlag
United States: Elsevier Inc
Erscheinungsjahr
2004
Quelle
MEDLINE
Beschreibungen/Notizen
Previous studies have shown conflicting findings in linking polymorphic variation in folate-related genes to the risk of neural tube defect pregnancy. Recent evidence points to maternal genotype being important in determining NTD risk. A case-control study was undertaken in 97 mothers of NTD cases from the northern region of the UK. Pregnant controls (
n=190) from a regional DNA bank and non-pregnant controls (
n=100) from the same geographical area were recruited.
MTHFR 677C>T,
MTHFR 1298A>C,
MTRR 66A>G,
SHMT 1420C>T,
CβS 844ins68, and
RFC-1 80G>A allele and genotype frequencies were determined and odds ratios (OR) calculated. Erythrocyte folate levels for cases and controls were also measured and a comparison made of median erythrocyte folate levels stratified according to genotype. The MTHFR 677C>T variant was not shown to be an independent NTD risk factor in mothers of NTD-affected pregnancy. A second polymorphism in
MTHFR, 1298A>C, was less frequently observed in mothers of NTD cases (OR [95% CI]=0.57 [0.33, 0.97]). Possession of compound 1298A>C and 677C>T variants elevated risk of NTD pregnancy considerably (TT/AC
+
TT/CC vs CC/AA OR [95% CI]=6.56 [1.10, 39.33]). Erythrocyte folate levels were persistently lower in NTD mothers (
p=0.001) despite assays being conducted many years after the index pregnancy (17.6
±
12.6 years). Erythrocyte folate levels were depressed in the presence of the
MTHFR 677C>T variant.