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Type: Artigo de periódico
Title: Preliminary Analysis Of The Nonsynonymous Polymorphism Rs17563 In Bmp4 Gene In Brazilian Population Suggests Protection For Nonsyndromic Cleft Lip And Palate.
Author: Araújo, Tânia Kawasaki
Simioni, Milena
Félix, Têmis Maria
de Souza, Liliane Todeschini
Fontes, Marshall Ítalo Barros
Monlleó, Isabella Lopes
Souza, Josiane
Fett-Conte, Agnes Cristina
Secolin, Rodrigo
Lopes-Cendes, Iscia
Maurer-Morelli, Cláudia Vianna
Gil-da-Silva-Lopes, Vera Lúcia
Abstract: Cleft lip with or without palate (CL±P) is common congenital anomalies in humans. Experimental evidence has demonstrated that bone morphogenetic protein 4 gene (Bmp4) is involved in the etiology of CL±P in animal models. The nonsynonymous polymorphism rs17563 T>C (p.V152A) in the BMP4 gene has been associated to the risk of nonsyndromic CL±P in Chinese population and microforms from different ethnic backgrounds. The aim of this study was to investigate the role of BMP4 gene in CL±P in Brazilian sample using genetic association approach. Our sample was composed by 123 patients with nonsyndromic CL±P and 246 controls, in which absence of CL±P was confirmed in 3 generations. The rs17563 polymorphism was genotyped by PCR-RFLP technique. Logistic regression was performed to evaluate allele and genotype association. Our data showed statistical power to detect association (86.83%) in this sample. Logistic regression results showed significant association between C allele and CL±P (P = 0.00018, OR = 0.40, and 95% CI = 0.25-0.65), as well as CC genotype and CL±P (P = 0.00018, OR = 0.35, and 95% CI = 0.19-0.66). So, there is a strong association between nonsyndromic CL±P and BMP4 rs17563 polymorphism in our sample and the C allele had a protective effect against the occurrence of nonsyndromic CL±P.
Citation: Plastic Surgery International. v. 2012, p. 247104, 2012.
Rights: aberto
Identifier DOI: 10.1155/2012/247104
Date Issue: 2012
Appears in Collections:Unicamp - Artigos e Outros Documentos

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