Investigation of polymorphisms in BMP2, BMP4, SMAD6 and RUNX2 genes and pulp stones

Katherine Azevedo Batistela Rodrigues Thuller; Lívia Azeredo Alves Antunes; Prescila Mota de Oliveira Kublitski; João Armando Brancher; Flares Baratto-Filho; Erika Calvano Küchler; Alice Corrêa Silva-Sousa; Manoel Damião Sousa-Neto; Marilisa Carneiro Leão Gabardo; Leonardo Santos Antunes

doi:10.1111/aej.12835

Investigation of polymorphisms in BMP2, BMP4, SMAD6 and RUNX2 genes and pulp stones

Aust Endod J. 2024 Mar 10. doi: 10.1111/aej.12835. Online ahead of print.

Authors

Katherine Azevedo Batistela Rodrigues Thuller¹, Lívia Azeredo Alves Antunes^{1

2

3}, Prescila Mota de Oliveira Kublitski⁴, João Armando Brancher⁴, Flares Baratto-Filho^{5

6}, Erika Calvano Küchler^{6

7}, Alice Corrêa Silva-Sousa⁸, Manoel Damião Sousa-Neto⁸, Marilisa Carneiro Leão Gabardo⁴, Leonardo Santos Antunes^{1

2

3}

Affiliations

¹ Postgraduate Program, School of Dentistry, Fluminense Federal University, Niterói, Rio de Janeiro, Brazil.
² Postgraduate Program, School of Dentistry, Fluminense Federal University, Nova Friburgo, Rio de Janeiro, Brazil.
³ Specific Formation Department, School of Dentistry of Nova Friburgo, Fluminense Federal University, Nova Friburgo, Rio de Janeiro, Brazil.
⁴ Postgraduate Program in Dentistry, School of Health Sciences, Universidade Positivo, Curitiba, Paraná, Brazil.
⁵ Department of Dentistry, Universidade da Região de Joinville, Joinville, Santa Catarina, Brazil.
⁶ School of Dentistry, Tuiuti University from Paraná, Curitiba, Paraná, Brazil.
⁷ Department of Orthodontics, University Hospital Bonn, Medical Faculty, Bonn, Germany.
⁸ Department of Restorative Dentistry, School of Dentistry of Ribeirão Preto, University of São Paulo (USP), Ribeirão Preto, São Paulo, Brazil.

PMID: 38462707
DOI: 10.1111/aej.12835

Abstract

This study aimed to assess the association between genetic polymorphisms in BMP2 (rs1005464 and rs235768), BMP4 (rs17563), SMAD6 (rs2119261 and rs3934908) and RUNX2 (rs59983488 and rs1200425) and pulp stones (PS). A total of 117 participants, consisting of 63 individuals with PS and 54 without PS, were included. Digital radiographs and a demographic/clinical questionnaire were used. Genomic DNA from salivary cells was genotyped via real-time polymerase chain reaction. Statistical analyses, including Chi-Square, Fisher's exact tests, Poisson regression and dimensionality reduction, were conducted. The rs2119261 polymorphism in the SMAD6 gene showed an association with genotype distribution in the recessive model (p = 0.049). The T-T haplotype in the SMAD6 gene (rs2119261 and rs3934908) was more prevalent in the control group and significantly linked with PS (p = 0.029). No associations were found between PS risk and genetic polymorphisms in BMP2, BMP4 and RUNX2. Polymorphisms in the SMAD6 gene were associated with PS.

Keywords: dental pulp calcification; genetic polymorphisms; genetics; pulp biology; pulp stone.