Spina bifida and folate-related genes: a study of gene-gene interactions.
OBJECTIVE
To assess whether interactions of common alleles of two folate genes contribute to spina bifida risk.


METHODS
Case-control study, comparing 203 children with spina bifida to 583 controls.


RESULTS
Homozygosity for the 677C-T allele of 5,10-methylenetetrahydrofolate reductase (MTHFR) alone was associated with an odds ratio for spina bifida of 1.57 (95% confidence interval [CI], 1.02-2.38). For the 844ins68 allele of cystathionine-beta-synthase alone, the odds ratio was 0.83 (95% CI, 0.39-1.64). For the joint genotype, the odds ratio was 3.69 (95% CI, 1.04-13.50).


CONCLUSIONS
Interactions between common alleles of folate genes might contribute to the risk for spina bifida.
Department of Pediatrics, Federico II University, Napoli, Italy.
Raffaella
R
de Franchis
Lorenzo D
LD
Botto
Gianfranco
G
Sebastio
Roberta
R
Ricci
Achille
A
Iolascon
Valeria
V
Capra
Generoso
G
Andria
Pierpaolo
P
Mastroiacovo
D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003541:Cystathionine beta-Synthase / Q000235:genetics* / Q000378:metabolism; D005492:Folic Acid / Q000235:genetics*; D006801:Humans; D007223:Infant; D008126:Lod Score; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics* / Q000378:metabolism; D016135:Spinal Dysraphism / Q000235:genetics* / Q000378:metabolism
D005492:Folic Acid; D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003541:Cystathionine beta-Synthase