Genetic variations in MMP9 and MMP13 contribute to tooth agenesis in a Brazilian population

Abstract

We investigated the association between polymorphisms in the MMP2 (rs243865), MMP9 (rs17576), and MMP13 (rs2252070) genes with tooth agenesis in humans. Two hundred eighty-five unrelated individuals (202 controls without tooth agenesis and 83 cases with tooth agenesis) were evaluated in a cross-sectional single-center study. The study participants were recruited through the Pediatric Dental Clinics of the Federal University of Rio de Janeiro, Brazil. Genotyping of the selected polymorphisms for MMPs was carried out by real-time PCR using the Taqman assay method from genomic DNA isolated from buccal epithelial cells of all the studied individuals. There was no significant association of MMP2 genotype or allele distribution with tooth agenesis or its absence. For MMP9, a significant difference in allele frequency was evident between the two groups (P = 0.05). With regard to the affected side, there was a significant difference between unilateral tooth agenesis and the control group in the distribution of MMP9 (P = 0.05). Also, there was a significant difference in MMP9 distribution between tooth agenesis in the maxilla and control individuals (P = 0.03). The genotype distribution of MMP13 differed significantly between the group with unilateral tooth agenesis and the controls (P = 0.01). Our findings provide evidence that MMP9 and MMP13 may be involved in tooth agenesis. (J Oral Sci 55, 281-286, 2013)

El papel de la enamelisina (MMP-20) en el desarrollo dentario. Revisión sistemática

“…These authors found associations among dental agenesis, MMP-1 (p = 0.007) and MMP-20 (p = 0.03) in Brazilian families. These results disagree with those reported by Antunes et al, 33 who studied the association of polymorphisms in human genes for MMP-2, MMP-9 and MMP-13 with dental agenesis, in 285 non-related individuals en individuos caucásicos con pobres hábitos de higiene oral.…”

“…Estos autores encontraron asociaciones entre la agenesias dentales, MMP-1 (p= 0,007) y MMP-20 (p= 0,03) en las familias brasileras. Estos resultados son contrarios a los reportado por Antunes y colaboradores, 33 en donde estudiaron la asociación de polimorfismos en genes para MMP-2, MMP-9 y MMP-13 en humanos con agenesias dentales, en 285 individuos no relacionados (202 controles sin agenesia dental y 83 casos con agenesia dental), donde no encontraron asociación significativa para el genotipo MMP-2, y encontraron una relación significativa de agenesias dentales asociadas a los genotipos de MMP-9 y MMP-13.…”

MMP13, TIMP2 and TGFB3 Gene Polymorphisms in Brazilian Chronic Periodontitis and Periimplantitis Subjects

“…Genetic modifications may be associated to a greater or lesser degree with the production of these molecules, or interfere in their physiology (5). Polymorphism in the MMP13 gene was previously associated with the development of colorectal cancer, aneurysm of the abdominal aorta, tooth agenesis and caries (11,23). In addition, polymorphisms in the TGFB3 gene were associated with non-syndromic cleft lip and development of tooth agenesis (24).…”

Dental genetics in Brazil: Where we are

“…In this scenario, Brazil is a pioneer in genetic studies in dentistry with a high number of publications in this area, with international collaborations for studies in hypodontia. Numerous Brazilian studies on genetics in dentistry have identified the association of genetic variations in MMP9 and MMP13 (Antunes et al., ), FGF3 (Vieira et al., ), TGFB3, and BMP4 (Antunes et al., ), MMP1 and MMP20 (Küchler et al., ), MSX1 and PAX9 (Lopez et al., ) with tooth agenesis, in a Brazilian population.…”