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Effect of the polymorphism rs642961, G>A in the IRF6 promoter region on the expression levels of this gene in mesenchymal stem cells

Grant number: 09/17352-1
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): January 01, 2010
Effective date (End): December 31, 2010
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Maria Rita dos Santos e Passos Bueno
Grantee:Lígia Kobayashi Bárbara
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Cleft lip with or without cleft palate nonsyndromic (NSCL/P) is the most common facial malformation present at birth. Even when repaired, it can still result in morbidity and social and clinical consequences to the patient. Rahimov et al. (2008) described a polymorphism (rs642961, G>A) in the IRF6 enhancer, which is associated with NSCL/P and in linkage disequilibrium with V274I (rs2235371). However, it is not known if this change is functional.To elucidate the functional role of this SNP, we will evaluate its effect on IRF6 transcriptional levels, in mesenchymal stem cells of NSCL/P patients. We will use DNA samples extracted from buccal swab or from mesenchymal cell cultures. These cultures are established from orbicularis oris muscle fragments, which are regularly discarded in corrective surgeries, or from the pulp of exfoliated teeth, which is naturally lost. RNA will be obtained only from cell cultures. For the polymorphism analysis we will use TaqMan® SNP Genotyping Assays (Applied Biosystems) system and analyze gene expression by quantitative Real Time PCR. We willl analyze 10 GG homozygote, and 10 GA heterozygote or AA homozygote patients. The mean gene expression will be compared between the two groups with Student's t test, with 5% significance level.

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