NUMERO: #20230160

Título: EVALUATION OF GENOME-WIDE ASSOCIATION SIGNALS FOR ORAL CLEFTS IN A MULTTIETHNIC BRAZILIAN POPULATION

Nome do Apresentador: Daniella Reis Barbosa MARTELLI

Categoria do Trabalho: Painel de pesquisa científica (PPC)

Área Temática: Patologia Oral

Resumo: Objective: To evaluate previous nonsyndromic cleft lip with or without cleft palate (NSCL±P) associated signals in 4p16.2, 8p11.23, 12q13.13, 12q13.2 and 17q21.32 in a multiethnic Brazilian cohort.
Study Design: The single nucleotide polymorphisms (SNPs) rs34246903 in 4p16.2, rs13317 in 8p11.23 (FGFR1, fibroblast growth factor receptor), rs3741442 in 12q13.13, rs705704 in 12q13.2 and rs4968247 in 17q21.32 were genotyped with TaqMan allelic discrimination assays in a case-control sample including 801 NSCL±P patients [233 cleft lip (NSCLO) and 568 cleft lip and palate (NSCLP)] and 881 controls. Multiple logistic regression, considering sex and genomic ancestry were conducted.
Results: Although several associations were identified, those that resisted the multiple correction testing involved the alleles and genotypes of rs34246903 and rs13317. The NSCLO group had a lower frequency of the minor C allele of rs34246903 compared to controls. The rs34246903 CC genotype and the recessive model revealed protective associations with NSCLO. The presence of C variant allele of rs13317 as well the TC genotype and the dominant model showed associations with reduced risk of NSCL±P.
Conclusion: Our study is the first to support the association of rs34246903 (4p16.2) with NSCLO and rs13317 within FGFR1 with NSCL±P in the Brazilian population.

Acknowledgment: CNPq e FAPEMIG

Autor 1:  Daniella Reis Barbosa MARTELLI

E-mail 1:  [email protected]

Autor 2:   Renato Assis MACHADO

E-mail 2:  [email protected]

Autor 3 :  Silvia Regina de Almeida REIS

E-mail 3:  [email protected]

Autor 4:  Hercílio MARTELLI-JÚNIOR

E-mail 4:  [email protected]

Autor 5:  Ana Lúcia Carrinho AYROZA

E-mail 5:  [email protected]

Autor 6:  Rafaela Scariot

E-mail 6:  [email protected]

Autor 7:  Ricardo D. Coletta

E-mail 7:  [email protected]