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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Region 8q24 Is a Susceptibility Locus for Nonsyndromic Oral Clefting in Brazil

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Autor(es):
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Brito, Luciano Abreu [1] ; Ribeiro Paranaiba, Livia Maris [2, 3] ; Silva Bassi, Camila Fernandes [1] ; Masotti, Cibele [1] ; Malcher, Carolina [1] ; Schlesinger, David [1, 4] ; Rocha, Katia Maria [1] ; Cruz, Lucas Alvizi [1] ; Barbara, Ligia Kobayashi [1] ; Alonso, Nivaldo [5] ; Franco, Diogo [6] ; Bagordakis, Elizabete [3] ; Martelli, Jr., Hercilio [2, 7] ; Meyer, Diogo [8] ; Coletta, Ricardo D. [3] ; Passos-Bueno, Maria Rita [1]
Número total de Autores: 16
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Inst Biosci, Human Genome Res Ctr, Sao Paulo - Brazil
[2] Univ Estadual Montes Claros, Sch Dent, Stomatol Clin, Montes Claros, MG - Brazil
[3] Univ Estadual Campinas, Sch Dent, Dept Oral Diag, Sao Paulo - Brazil
[4] Inst Israelita Ensino & Pesquisa Albert Einstein, Inst Cerebro, Sao Paulo - Brazil
[5] Univ Sao Paulo, Sch Med, Dept Surg, Sao Paulo - Brazil
[6] Univ Fed Rio de Janeiro, Dept Plast Surg, Rio De Janeiro - Brazil
[7] Univ Jose do Rosario Vellano, Sch Dent, Ctr Rehabil Craniofacial Anomalies, Alfenas, MG - Brazil
[8] Univ Sao Paulo, Dept Genet, Inst Biosci, Sao Paulo - Brazil
Número total de Afiliações: 8
Tipo de documento: Artigo Científico
Fonte: BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY; v. 94, n. 6, p. 464-468, JUN 2012.
Citações Web of Science: 27
Resumo

BACKGROUND: Nonsyndromic cleft lip with or without cleft palate is a relatively common craniofacial defect with multifactorial inheritance. The association of the rs987525 single nucleotide variant, located in a gene desert at 8q24.21 region, has been consistently replicated in European populations. We performed a structured association approach combined with transcriptional analysis of the MYC gene to dissect the role of rs987525 in oral clefting susceptibility in the ethnically admixed Brazilian population. METHODS: We performed the association study conditioned on the individual ancestry proportions in a sample of 563 patients and 336 controls, and in an independent sample of 221 patients and 261 controls. The correlation between rs987525 genotypes and MYC transcriptional levels in orbicularis oris muscle mesenchymal stem cells was also investigated in 42 patients and 4 controls. RESULTS: We found a significant association in the larger sample (p = 0.0016; OR = 1.80 {[}95% confidence interval [CI], 1.21-2.69], for heterozygous genotype, and 2.71 {[}95% CI, 1.47-4.96] for homozygous genotype). We did not find a significant correlation between rs987525 genotypes and MYC transcriptional levels (p = 0.14; r = -0.22, Spearman Correlation). CONCLUSIONS: We present a positive association of rs987525 in the Brazilian population for the first time, and it is likely that the European contribution to our population is driving this association. We also cannot discard a role of rs987515 in MYC regulation, because this locus behaves as an expression quantitative locus of MYC in another tissue. Birth Defects Research (Part A) 94:464-468, 2012. (C) 2012 Wiley Periodicals, Inc. (AU)

Processo FAPESP: 98/14254-2 - Centro de Estudos do Genoma Humano
Beneficiário:Mayana Zatz
Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs