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  • Title: MSX1 gene polymorphisms in non-syndromic cleft lip and/or palate.
    Author: Cardoso ML, Bezerra JF, Oliveira GH, Soares CD, Oliveira SR, de Souza KS, da Silva HP, Silbiger VN, Luchessi AD, Fajardo CM, Hirata RD, Almeida MG, Hirata MH, Rezende AA.
    Journal: Oral Dis; 2013 Jul; 19(5):507-12. PubMed ID: 23130753.
    Abstract:
    OBJECTIVE: The aim of this study was to investigate the contribution of 6 polymorphic variants of the MSX1 gene in non-syndromic cleft lip and/or palate (NSCL/P). METHODS: Three hundred and fifty-eight individuals (158 NSCL/P cases and 200 controls) were genotyped by TaqMan allelic discrimination using predesigned SNP assays. Statistical analyses were conducted using the software spss 15.0 and the r statistical suite. Haplotype block structure and haplotype frequencies were determined using the Haploview. A P-value of 0.05 and confidence interval of 95% were used for all of statistical tests. RESULTS: The patients with non-syndromic cleft lip and/or palate were characterized by similar distribution of MSX1 genotypes and allele in comparison to subjects without oral clefts (P > 0.05). Two haplotype blocks were constructed with polymorphisms of MSX1 gene and haplotypes formed showed a similar frequency in patients with and without oral clefts. CONCLUSIONS: The present study provides no evidence that MSX1 polymorphisms (rs3775261, rs1042484, rs12532, rs6446693, rs4464513 and rs1907998) play a major role in NSCL/P.
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