The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela

Mehmet A. Sözen; Marie M. Tolarova; Richard A. Spritz

doi:10.1016/S1673-8527(08)60116-2

Volume 36 Issue 5

May 2009

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Article Navigation > Journal of Genetics and Genomics > 2009 > 36(5): 283-288

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The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela

doi: 10.1016/S1673-8527(08)60116-2

a
Department of Medical Biology, School of Medicine, Afyon Kocatepe University, Afyonkarahisar, 03200 Turkey
b
Department of Orthodontics, University of the Pacific, San Francisco, CA 94115, USA
c
Human Medical Genetics Program, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO 80045, USA

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Corresponding author: E-mail address: masozen@hotmail.com (Mehmet A. Sözen)
Received Date: 2008-10-07
Accepted Date: 2009-02-06
Rev Recd Date: 2009-01-25

Available Online: 2009-05-15

Publish Date: 2009-05-20

Abstract

Abstract

Non-syndromic cleft lip with or without cleft palate (nsCL/P) is among the most common major birth defects, with complex inheritance involving multiple genes and environmental factors. Numerous studies of MTHFR, encoding methylenetetrahydrofolate reductase, which catalyzes the rate-limiting step of folic acid biosynthesis, have shown inconsistent association of two common hypomorphic allelic variants, C677T and A1298C, in nsCL/P patients and, in some cases, their mothers. We have studied the MTHFR C677T and A1298C polymorphisms in nsCL/P patients, their mothers, and population-matched controls from northern Venezuela. We found no evidence for contribution of the MTHFR C677T and A1298C variants to the risk of nsCL/P in northern Venezuela. Overall, our findings fail to support a causal role of either the MTHFR C677T or A1298C variants in the pathogenesis of nsCL/P in northern Venezuela.
- cleft lip,
- cleft palate,
- methylenetetrahydrofolate reductase,
- folic acid

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References(48)

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