ArticleMedicina oral, patologia oral y cirugia bucal2013
Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population.
Article in Medicina oral, patologia oral y cirugia bucal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Rare missense variants inFrontiers in genetics · 2026Article
- Genetic associations and parent-of-origin effects of PVRL1 in non-syndromic cleft lip with or without cleft palate across multiple ethnic populations.Epidemiology and health · 2024Article
- The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.Oral and maxillofacial surgery · 2023Review
- Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.Frontiers in cell and developmental biology · 2020Review
- Distinct DNA methylation profiles in subtypes of orofacial cleft.Clinical epigenetics · 2017Article
- Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development.Progress in neurobiology · 2015Review
- Convergence and extrusion are required for normal fusion of the mammalian secondary palate.PLoS biology · 2015Article
- Association of MSX1 gene polymorphisms and maxillary lateral incisor agenesis in Non-syndromic cleft lip and/or palate individuals.Journal of oral biology and craniofacial researchArticle
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9 authors.
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No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectiveNonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development.
designWe carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGFβ3, MSX1, MYH9 and JAG2, in 367 patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P.
resultsFour out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744 of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the G variant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667 and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed.
conclusionThe study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236 polymorphism and NSCL/P.
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