title: Preliminary Analysis of the Nonsynonymous Polymorphism rs17563 in BMP4 Gene in Brazilian Population Suggests Protection for Nonsyndromic Cleft Lip and Palate.
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.
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas (UNICAMP), 13083-887 Campinas, SP, Brazil.
authors.forename: Tânia Kawasaki
authors.initials: TK
authors.lastname: Araújo
authors.forename: Milena
authors.initials: M
authors.lastname: Simioni
authors.forename: Têmis Maria
authors.initials: TM
authors.lastname: Félix
authors.forename: Liliane Todeschini
authors.initials: LT
authors.lastname: de Souza
authors.forename: Marshall Ítalo Barros
authors.initials: MÍ
authors.lastname: Fontes
authors.forename: Isabella Lopes
authors.initials: IL
authors.lastname: Monlleó
authors.forename: Josiane
authors.initials: J
authors.lastname: Souza
authors.forename: Agnes Cristina
authors.initials: AC
authors.lastname: Fett-Conte
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Secolin
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
authors.forename: Cláudia Vianna
authors.initials: CV
authors.lastname: Maurer-Morelli
authors.forename: Vera Lúcia
authors.initials: VL
authors.lastname: Gil-da-Silva-Lopes