Ethnic Differences in the Brazilian Population Influence the Impact of BMP4 Genetic Variants on Susceptibility of Nonsyndromic Orofacial Clefts.
| Autor: | Rocha de Oliveira LQ; Graduate Program in Oral Biology, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil., de Souza Nicolau HC; Graduate Program in Oral Biology, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil., Barbosa Martelli DR; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil., Martelli-Júnior H; Stomatology Clinic, Dental School, State University of Montes Claros, Montes Claros, Minas Gerais, Brazil.; Center for Rehabilitation of Craniofacial Anomalies, Dental School, University of Professor Edson Antônio Velano, Alfenas, Minas Gerais, Brazil., Scariot R; Department of Oral and Maxillofacial Surgery, School of Health Science, Federal University of Paraná, Curitiba, Brazil., Ayroza Rangel ALC; Center of Biological Sciences and of the Health, School of Dentistry, State University of Western Paraná, Cascavel, Paraná, Brazil., de Almeida Reis SR; Department of Basic Science, Bahiana School of Medicine and Public Health, Salvador, Bahia, Brazil., Coletta RD; Graduate Program in Oral Biology, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.; Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil., Machado RA; Graduate Program in Oral Biology, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil.; Department of Oral Diagnosis, School of Dentistry, University of Campinas, Piracicaba, São Paulo, Brazil. |
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| Jazyk: | angličtina |
| Zdroj: | The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Oct; Vol. 61 (10), pp. 1701-1712. Date of Electronic Publication: 2023 Jun 04. |
| DOI: | 10.1177/10556656231180086 |
| Abstrakt: | Objective: The study evaluated the association of BMP4 tag-SNPs and SNP-SNP interactions involving genes active by BMP4 pathway during craniofacial development in the susceptibility of nonsyndromic orofacial clefts (NSOC) in the Brazilian population. Design: Case-control study. Setting: Brazilian Oral Cleft Group. Participants: The study included 881 healthy controls and 800 patients with different types of NSOC: 232 with cleft lip only (NSCLO), 568 with cleft lip and palate (NSCLP), and 274 with cleft palate only (NSCPO). Interventions: The genomic DNA was genotyped with allelic discrimination assays for five BMP4 tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and analyzed their allelic and genotypic associations using multiple logistic regression. The interactions of these variants with genes involved in the BMP4 signaling pathway, including FGFR1 , GREM1 , NOG , VAX1 and the 4p16.2 locus, were explored. Main Outcome Measures: BMP4 variants in the NSOC risk. Results: Although only nominal p values were identified when the whole sample was considered, subgroup analysis including the patients with high African genomic ancestry showed significant associations of rs2761887 with risk for nonsyndromic cleft lip with or without cleft palate (NSCL ± P)[(OR Conclusions: Our results demonstrate an increased risk of NSCL ± P in Brazilian individuals with enrichment of African ancestry in the presence of the BMP4 rs2762887 polymorphism, and reveal relevant genetic contribution of SNP-SNP epistatic interactions involving BMP4 variants to NSCL ± P risk. Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. |
| Databáze: | MEDLINE |
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