© 2002 Journal of Medical Genetics
LETTER TO JMG
Maternal MTHFR genotype contributes to the risk of non-syndromic cleft lip and palate
Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
Correspondence to:
Correspondence to:
Dr N J Prescott, Clinical and Molecular Genetics Unit, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK;
n.prescott@ich.ucl.ac.uk
Keywords: cleft lip/palate; MTHFR genotype; folate
Recently, we reported a whole genome scan in sib pairs with non-syndromic cleft lip and palate (CLP), highlighting several regions as possible susceptibility loci, one of which is situated on 1p36.1 This region is of particular interest in CLP as it harbours the gene encoding MTHFR, an enzyme fundamental in the metabolism of the biologically active form of folic acid. Dietary folic acid deficiency has been considered as a candidate environmental factor in the aetiology of CLP in several studies. A study of CL/P cases born in the Czech Republic suggested that high dose (10 mg) folic acid supplements taken by pregnant mothers could decrease their chance of having a second affected CL/P child by 25-65%.2 Similar findings were reported in a case-control study in California for a much lower dose supplementation (<1 mg).3 Also, evidence provided by a Hungarian prospective cohort study and a study of the Hungarian Case-Control
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This article has been cited by other articles:
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Johnson, C. Y, Little, J.
(2008). Folate intake, markers of folate status and oral clefts: is the evidence converging?. Int J Epidemiol
37: 1041-1058
[Abstract] [Full Text] -
Shotelersuk, V, Ittiwut, C, Siriwan, P, Angspatt, A
(2003). Maternal 677CT/1298AC genotype of the MTHFR gene as a risk factor for cleft lip. J. Med. Genet.
40: e64-64
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