NUMERO: #20260017

Título: EVALUATION OF MULTIALLELIC VARIANTS IN BRAZILIAN CASE-PARENT TRIOS WITH NONSYNDROMIC OROFACIAL CLEFT

Nome do Apresentador: Daniel Drumond PAIVA

Categoria do Trabalho: Pôster - Investigação Original (IO)

Área Temática: Patologia Oral

Resumo: Objective: To evaluate a high-quality set of multiallelic single nucleotide polymorphism (SNP) identified in a high-density genotyping SNP array in case-parent trios with nonsyndromic orofacial clefts. Methods: The study employed a retrospective cross-sectional analytical observational design. Genotype data from case-parent trios were processed in the AxiomT Analysis Suite and subjected to sample and marker quality control. Loci initially classified as multiallelic were filtered using array specific metrics and minimum allele count criteria to define truly multiallelic sites. Family-based analyses included transmission disequilibrium tests, parent-of-origin models, and transmission asymmetry tests, supported by genotype clustering review. Results: Among 106 confirmed multiallelic loci, two common variants, rs2080401 and rs3822072, showed robust and consistent protective associations in trio-based analyses, with relative risks (RR) below 1 for both rs2080401 (RR = 0.43925, 95% CI: 0.311717-0.6190, p < 0.01) and rs3822072 (RR = 0.49153, 95% CI: 0.358960-0.6730, p < 0.01). Conclusion: Multiallelic variants identified can be robustly evaluated in case-parent trios and may contribute protective effects to the genetic architecture of nonsyndromic orofacial clefts. Funding/Support: Centro de Excelência de Pesquisa em Saúde da Unimontes, FAPEMIG, CAPES, and CNPq.

Autor 1:  Daniel Drumond PAIVA

E-mail 1:  [email protected]

Autor 2:   Ângelo Borges de MELO NETO

E-mail 2:  [email protected]

Autor 3 :  Silvia Regina de Almeida REIS

E-mail 3:  [email protected]

Autor 4:  Daniella Reis Barbosa MARTELLI

E-mail 4:  [email protected]

Autor 5:  Renato Assis MACHADO

E-mail 5:  [email protected]

Autor 6:  Ricardo Della COLETTA

E-mail 6:  [email protected]

Autor 7:  Hercílio MARTELLI-JÚNIOR

E-mail 7:  [email protected]