ArticleBirth defects research. Part A, Clinical and molecular teratology2012
Association of MMP3 and TIMP2 promoter polymorphisms with nonsyndromic oral clefts.
Article in Birth defects research. Part A, Clinical and molecular teratology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 36 citations in OpenAlex.
- Growth factor analysis in children with non-syndromic orofacial clefts: a systematic review.BMC oral health · 2026Pooled it
- Genetic markers for non-syndromic orofacial clefts in populations of European ancestry: a meta-analysis.Scientific reports · 2022Pooled it
- Investigating Single Nucleotide Polymorphisms in the Etiology of Cleft Lip and Cleft Palate in the Polish Population.International journal of molecular sciences · 2024Article
- Exploring the role of the WNT5A rs566926 polymorphism and its interactions in non-syndromic orofacial cleft: a multicenter study in Brazil.Journal of applied oral science : revista FOB · 2024Article
- Brazilian Multiethnic Association Study of Genetic Variant Interactions amongDentistry journal · 2022Article
- Evaluation of the Multiple Tissue Factors in the Cartilage of Primary and Secondary Rhinoplasty in Cleft Lip and Palate Patients.Pediatric reports · 2022Article
- Polygenic risk impacts PDGFRA mutation penetrance in non-syndromic cleft lip and palate.Human molecular genetics · 2022Article
- DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate.Frontiers in cell and developmental biology · 2021Article
- Cellular and developmental basis of orofacial clefts.Birth defects research · 2020Review
- Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate.Human genetics · 2020Article
- The Association of Matrix Metalloproteinase Gene Polymorphisms and Periodontitis: An Overview.Journal of pharmacy & bioallied sciences · 2020Review
- Extracellular Matrix Composition and Remodeling: Current Perspectives on Secondary Palate Formation, Cleft Lip/Palate, and Palatal Reconstruction.Frontiers in cell and developmental biology · 2019Review
- A Pragmatic Study Shows Failure of Dental Composite Fillings Is Genetically Determined: A Contribution to the Discussion on Dental Amalgams.Frontiers in medicine · 2017Article
- Article
- Crispld2 is required for neural crest cell migration and cell viability during zebrafish craniofacial development.Genesis (New York, N.Y. : 2000) · 2015Article
- Functional Significance of MMP3 and TIMP2 Polymorphisms in Cleft Lip/Palate.Journal of dental research · 2014Article
- Clinical and genetic analysis of a nonsyndromic oligodontia in a child.Case reports in dentistry · 2014Article
- Further evidence of association of the ABCA4 gene with cleft lip/palate.European journal of oral sciences · 2012Article
- The functional EGF+61 polymorphism and nonsyndromic oral clefts susceptibility in a Brazilian population.Journal of applied oral science : revista FOBArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundOral clefts are common congenital anomalies and result from defects during embryogenesis. The complex etiology is evident by the number of genes and signaling pathways involved in craniofacial development. Matrix metalloproteinases (MMPs) and their inhibitors (TIMPs) are responsible for tissue remodeling during craniofacial development.
methodsIn this study, we investigated the association of polymorphisms in 14 biologically relevant MMP and TIMP genes in 494 individuals with oral clefts and 413 control individuals from Brazil. Genotypes were generated using Taqman chemistry. Analyses were performed using PLINK software.
resultsPolymorphisms in MMP3 (rs522616) and TIMP2 (rs8179096) showed significant association with all cleft types (all clefts, cleft lip/palate, and cleft palate; p ≤ 0.002). An additional family-based dataset (881 case-parent trios) from the United States was used for confirmation of the association findings (p < 0.05). Analysis of gene-gene interaction suggests that MMP3 and TIMP2 may interactively contribute to a cleft phenotype.
conclusionsThis study provides new evidence that variation in MMP3 may contribute to nonsyndromic oral clefts and further supports the involvement of TIMP2 as a cleft susceptibility gene. Although additional studies are still necessary to unveil the exact mechanism by which MMP3 and TIMP2 would contribute to a cleft phenotype, allelic polymorphisms in these genes and their interactions may partly explain the variance of individual susceptibility to oral clefts.
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