Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25

Augusto Rojas-Martinez, Heiko Reutter, Oscar Chacon-Camacho, Rafael B.R. Leon-Cachon, Sergio G. Munoz-Jimenez, Stefanie Nowak, Jessica Becker, Ruth Herberz, Kerstin U. Ludwig, Mario Paredes-Zenteno, Abelardo Arizpe-Cantú, Susanne Raeder, Stefan Herms, Rocio Ortiz-Lopez, Michael Knapp, Per Hoffmann, Markus M. Nöthen, Elisabeth Mangold

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Abstract

INTRODUCTION: Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all birth defects. NSCL/P has a multifactorial etiology that includes both genetic and environmental factors. The IRF6 gene and three further susceptibility loci at 8q24, 10q25, and 17q22, which were identified by a recent genome-wide association scan (GWAS), are confirmed genetic risk factors for NSCL/P in patients of European descent. METHODS: A case-control association study was performed to investigate whether these four risk loci contribute to NSCL/P in a Mesoamerican population using four single nucleotide polymorphisms to represent IRF6 and the three novel susceptibility loci. A total of 149 NSCL/P patients and 303 controls of Mayan origin were included. RESULTS: Single marker analysis revealed a significant association between NSCL/P and risk variants in IRF6 and the 8q24 and 10q25 loci. In contrast to previous findings, the association at the 8q24 locus was driven solely by homozygote carriers of the risk allele. This suggests that this locus might act in a recessive manner in the Mayan population. No evidence for association was found at the 17q22 locus. This may have been attributable to the limited power of the sample. CONCLUSION: These results suggest that IRF6 and the 10q25 and 8q24 loci confer a risk for the development of NSCL/P in persons of Mayan origin. © 2010 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)535-537
Number of pages3
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
DOIs
Publication statusPublished - 1 Jan 2010
Externally publishedYes

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All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology

Cite this

Rojas-Martinez, A., Reutter, H., Chacon-Camacho, O., Leon-Cachon, R. B. R., Munoz-Jimenez, S. G., Nowak, S., Becker, J., Herberz, R., Ludwig, K. U., Paredes-Zenteno, M., Arizpe-Cantú, A., Raeder, S., Herms, S., Ortiz-Lopez, R., Knapp, M., Hoffmann, P., Nöthen, M. M., & Mangold, E. (2010). Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a mesoamerican population: Evidence for IRF6 and variants at 8q24 and 10q25. Birth Defects Research Part A - Clinical and Molecular Teratology, 535-537. https://doi.org/10.1002/bdra.20689