NUMERO: #20240003

Título: IMPACT OF BMP4 GENETIC VARIANTS ON SUSCEPTIBILITY OF OROFACIAL CLEFTS IN THE BRAZILIAN POPULATION

Nome do Apresentador: Hercílio MARTELLI JÚNIOR

Categoria do Trabalho: Painel de pesquisa científica (PPC)

Área Temática: Estomatologia

Resumo: Objective: The study evaluated the association of BMP4 tag-SNPs and SNP-SNP interactions involving genes active by BMP4 during craniofacial development in the susceptibility of orofacial clefts.
Design: The sample was composed of 881 health controls, 800 patients with nonsyndromic cleft lip with or without cleft palate (NSCL±P), including 232 patients with nonsyndromic cleft lip only (NSCLO) and 568 patients with cleft lip and palate (NSCLP), and 274 patients with nonsyndromic cleft palate only (NSCPO). The genomic DNA was genotyped with allelic discrimination assays for five BMP4 tag-SNPs (rs11623717, rs17563, rs2071047, rs2761887 and rs4898820), and allelic and genotypic associations were tested by multiple logistic regression.
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 NSCL±P [(ORhom:2.16; 95% CI:1.21-3.85; p=0.01) and (ORrec:2.05; 95%CI:1.21-3.47; p=0.006)]. Thirteen significant SNP-SNP interactions involving BMP4 and the SNPs at FGFR1, GREM1, NOG and VAX1 and at locus 4p16.2 for increased risk of NSCL±P were identified.
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.

Acknowledgment: CNPq e FAPEMIG

Autor 1:  Daniella Reis Barbosa MARTELLI

E-mail 1:  [email protected]

Autor 2:   Lilianny Querino R. de OLIVEIRA

E-mail 2:  [email protected]

Autor 3 :  Hellen Carolliny de Souza NICOLAU

E-mail 3:  [email protected]

Autor 4:  Silvia Regina de Almeida REIS

E-mail 4:  [email protected]

Autor 5:  Ricardo D. COLETTA

E-mail 5:  [email protected]

Autor 6:  Renato Assis MACHADO

E-mail 6:  [email protected]

Autor 7:  Hercílio MARTELLI JÚNIOR

E-mail 7:  [email protected]