TY - JOUR A2 - Da Silva Freitas, Renato AU - Araújo, Tânia Kawasaki AU - Simioni, Milena AU - Félix, Têmis Maria AU - de Souza, Liliane Todeschini AU - Fontes, Marshall Ítalo Barros AU - Monlleó, Isabella Lopes AU - Souza, Josiane AU - Fett-Conte, Agnes Cristina AU - Secolin, Rodrigo AU - Lopes-Cendes, Iscia AU - Maurer-Morelli, Cláudia Vianna AU - Gil-da-Silva-Lopes, Vera Lúcia PY - 2012 DA - 2012/11/27 TI - Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate SP - 247104 VL - 2012 AB - 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. SN - 2090-1461 UR - https://doi.org/10.1155/2012/247104 DO - 10.1155/2012/247104 JF - Plastic Surgery International PB - Hindawi Publishing Corporation KW - ER -