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Impact of SNPs (single nucleotide polymorphisms) on the levels of expression of IRF6 in patient cells with cleft lip with or without cleft palate

Grant number: 11/04260-1
Support type:Scholarships in Brazil - Master
Effective date (Start): August 01, 2011
Effective date (End): February 28, 2013
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Maria Rita dos Santos e Passos Bueno
Grantee:Carolina Malcher Amorim de Carvalho Silva
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil


Cleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations and may be associated with other anomalies or occur alone (NS CL/P). The NS CL/P is associated with a model of multifactorial inheritance, with genetic and environmental factors acting in the etiology of the disorder. Among the risk alleles associated with predisposition to disease, are the ones located in IRF6 (interferon regulatory factor 6). Most of the polymorphisms associated with NS CL/P are in the noncoding regions of the gene, suggesting a regulatory role for these variants, either by regulating gene activity at transcription level or because they are in linkage disequilibrium with other variables involved in this kind of regulation. Our goal is to evaluate the impact of SNPs in the noncoding regions in the pattern of gene expression of IRF6 in adult mesenchymal stem cells derived from patients with NS CL/P. Genotyping of these individuals will be held through the TaqMan ® system, expression analysis by real time quantitative PCR and for data analysis will be made a linear regression between the value found by coding the genotype (in the frequency of rare allele) and the level normalized expression, from which will retrieve a value of p (p-value). And finally, to estimate the probable haplotypes the PHASE v2.1.1 program will be used. (AU)

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Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
SILVA, Carolina Malcher Amorim de Carvalho. Investigation of the role of SNVs (single nucleotide variants) in the etiology of nonsyndromic cleft lip with or without cleft palate. 2013. Master's Dissertation - Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB) São Paulo.

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