Table of Contents
Plastic Surgery International
Volume 2012, Article ID 247104, 5 pages
Research Article

Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate

1Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil
2Medical Genetics Service, Hospital de Clinicas de Porto Alegre, 90035-903 Porto Alegre, RS, Brazil
3Medical Genetics Sector, State University of Alagoas, 57010-300 Maceio, AL, Brazil
4Clinical Genetics Service, University Hospital, Federal University of Alagoas, 57072-970 Maceio, AL, Brazil
5Centro de Atendimento Integral ao Fissurado Labiopalatal (CAIF), 81050-00 Curitiba, PR, Brazil
6Department of Molecular Biology, Medicine School of São José do Rio Preto (FAMERP FUNFARME), 15090-000 São José do Rio Preto, SP, Brazil

Received 27 July 2012; Accepted 3 November 2012

Academic Editor: Renato Da Silva Freitas

Copyright © 2012 Tânia Kawasaki Araújo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 ( , OR , and 95% CI = 0.25–0.65), as well as CC genotype and CL±P ( , OR , 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.