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Analysis of SNP rs987525 (8q24.21) and susceptibility for nonsyndromic cleft lip and/or palate in the Brazilian population

Grant number: 10/01672-4
Support type:Scholarships in Brazil - Scientific Initiation
Effective date (Start): May 01, 2010
Effective date (End): September 30, 2011
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal researcher:Maria Rita dos Santos e Passos Bueno
Grantee:Camila Bassi Fernandes da Silva
Home Institution: Instituto de Biociências (IB). Universidade de São Paulo (USP). São Paulo , SP, Brazil
Associated research grant:98/14254-2 - The Human Genome Research Center, AP.CEPID


Cleft lip with or without cleft palate (CL/P) is the most common facial malformation present at birth and its incidence varies among populations. In populations of European ancestry, for example, the incidence is around 1:1000 births. However, the smallest values are observed in populations of African ancestry (0.3:1000). It is a complex disease with multifatorial inheritance, where both genetic and environmental factors are involved. CL/P can be syndromic or nonsyndromic (NSCL/P). In the attempt to identify genetic susceptibility factors, it was found an association between SNP rs987525 on chromosome 8q24.21 and NSCL/P, but its functional relation with CL/P is still unknown. The most used approach for the investigation of genes associated with diseases is the case-control study, in which the frequency of polymorphic variants is compared between patients and control individuals. Still, one problem with this approach, in the context of the Brazilian population, is the population stratification due to ethnic mixture. Therefore it is too difficult to apply this approach for the study of complex diseases in Brazil. In the present study we are going to use the admixture mapping method, where the racial mixture is an advantageous factor for investigating alleles that can correspond to candidate susceptibility loci for NSCL/P. With this methodology, we are going to verify if SNP rs987525 is associated with susceptibility for NSCL/P in the Brazilian population.

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