DLX1 and MMP3 contribute to oral clefts with and without positive family history of cancer

Sabóia, Ticiana Medeiros de; Reis, Maria Fernanda; Martins, Ângela M.C.; Romanos, Helena Freire; Tannure, Patrícia Nivoloni; Granjeiro, José Mauro; Vieira, Alexandre R.; Antunes, Leonardo Santos; Küchler, Érika Calvano; Costa, Marcelo C.

doi:10.1016/j.archoralbio.2014.10.002

Cited by 12 publications

(7 citation statements)

References 40 publications

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“…In the second phase, the full‐text review was then conducted on the 71 first‐phase selected citations, which lead to the exclusion of 22 studies. In the end of the two phases, 49 studies fulfilled the inclusion criteria (Antunes et al, ; Araújo et al, ; Araujo et al, ; Bagordakis et al, ; Bezerra et al, ; Brandalize et al, ; Brito, Bassi, & Masotti, ; Brito et al, ; Bufalino et al, ; Cardoso et al, ; Choi et al, ; da Silva, Ribeiro, Cooper, Marazita, & Moretti‐Ferreira, ; de Aguiar et al, ; de Aquino et al, a,b; de Souza et al, ; do Rego Borges et al, ; Ehlers Bertoja, Sampaio Alho, De França, Menegotto, & Miriam Robinson, ; Falagan‐Lotsch et al, ; Filézio et al, ; Fontoura, Silva, Granjeiro, & Letra, ; Gaspar et al, ; Jehee et al, ; Küchler et al, ; Letra, Menezes, Granjeiro, & Vieira, ; Letra, Silva, & Menezes, ; Letra et al, a,b; Machado et al, a,b, ; Menezes, Letra, Ruff, Granjeiro, & Vieira, ; Menezes et al, ; Messetti et al, ; Paranaíba et al, ; Passos‐Bueno et al, ; Sabóia et al, ; Souza, Kowalski, Collares, & Félix, ; Souza, Kowalski, Vanz, Giugliani, & Félix, ; Waltrick‐Zambuzzi et al, ; Zucchero et al, ), but only 11 articles were used in the meta‐analysis (Antunes et al, ; Araújo et al, ; Bagordakis et al, ; Brito et al, ; de Aguiar et al, ; do Rego Borges et al, ; Fontoura et al, ; Gaspar et al, ; Paranaíba et al, ;).…”

Section: Resultsmentioning

confidence: 99%

Potential genetic markers for nonsyndromic oral clefts in the Brazilian population: A systematic review and meta‐analysis

Machado

Toledo

Martelli‐Júnior

et al. 2018

Birth Defects Research

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A large number of genetic markers distributed in several genes/loci was associated with NOC in the Brazilian population, but in general the original studies included limited number of samples and unsatisfactory protocols. The classical risk markers located in IRF6 and 8q24 showed promising results as well as rs1801133 in MTHFR and rs17563 in BMP4, and they should be validated in larger and multicenter studies taking in consideration the variations in the miscegenation of Brazilian population.

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Section: Resultsmentioning

confidence: 99%

Potential genetic markers for nonsyndromic oral clefts in the Brazilian population: A systematic review and meta‐analysis

Machado

Toledo

Martelli‐Júnior

et al. 2018

Birth Defects Research

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“…These findings agree with previous studies which suggested that individuals born with NSCL/P have a higher risk for cancer 18,19,53 . Recent evidences from genetic studies have supported the hypothesis that some genes are simultaneously associated with cancer and craniofacial disorders 21,22 , but more studies are required to better understand which common mechanisms have a role in both conditions. In summary, this study observed a CLP prevalence, followed by CLO and CPO.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies have also shown a high risk of cancer in relatives of patients with NSCL/P 18,20 . This association has been explained, because cancer and NSCL/P may share similar genetic defects, which may be segregated within family 21,22 .…”

Section: Introductionmentioning

confidence: 99%

Epidemiological features of patients with nonsyndromic cleft lip and/or palate in Western Parana

et al. 2016

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Aim: : To describe the clinical, demographic and environmental features associated with NSCL/P (nonsyndromic cleft lip and/or palate) patients born in western Parana state, Brazil. Methods: This cross-sectional, observational, retrospective study included 188 patients attended at the Association of Carriers of Cleft Lip and Palate - APOFILAB, Cascavel-Parana, between 2012 and 2014. Information on demographic characteristics, medical and dental histories and life style factors were obtained from records and personal interviews. Results: Among the 188 patients, cleft lip and palate (CLP) was the most frequent subtype (55.8%), followed by cleft lip only (CLO, 25.0%) and cleft palate only (CPO, 19.2%). Caucasian males were the most affected, although no differences among types of cleft were observed. The otorhinolaryngologic and respiratory alterations were the most frequent systemic alterations in NSCL/P patients, and more than 80% of the NSCL/P mothers reported no vitamin supplements during the first trimester of pregnancy. Conclusions: This study revealed that the prevalence of nonsyndromic oral cleft types in this cohort was quite similar to previously reported prevalence rates. Systemic alterations were identified among 23.4% of the patients and patients with CLP were the most affected. History of maternal exposition to environmental factors related to nonsyndromic oral clefts was frequent and most mothers reported no vitamin supplements during the pregnancy. This study highlights the importance of identifying systemic alterations and risk factors associated with NSCL/P in the Brazilian population for planning comprehensive strategies and integrated actions for the development of preventive programs and treatment.

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“…We included 148 nuclear families treated at the Nossa Senhora do Loreto Hospital, Rio de Janeiro, Brazil. Syndromic oral cleft cases were excluded; the characteristics of these families were previously described 22 .…”

Section: Methodsmentioning

confidence: 99%

Assessing the association between hypoxia during craniofacial development and oral clefts

et al. 2018

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ObjectivesTo evaluate the association between hypoxia during embryo development and oral clefts in an animal model, and to evaluate the association between polymorphisms in the HIF-1A gene with oral clefts in human families.Material and MethodsThe study with the animal model used zebrafish embryos at 8 hours post-fertilization submitted to 30% and 50% hypoxia for 24 hours. At 5 days post-fertilization, the larvae were fixed. The cartilage structures were stained to evaluate craniofacial phenotypes. The family-based association study included 148 Brazilian nuclear families with oral clefts. The association between the genetic polymorphisms rs2301113 and rs2057482 in HIF-1A with oral clefts was tested. We used real time PCR genotyping approach. ANOVA with Tukey's post-test was used to compare means. The transmission/disequilibrium test was used to analyze the distortion of the inheritance of alleles from parents to their affected offspring.ResultsFor the hypoxic animal model, the anterior portion of the ethmoid plate presented a gap in the anterior edge, forming a cleft. The hypoxia level was associated with the severity of the phenotype (p<0.0001). For the families, there was no under-transmitted allele among the affected progeny (p>0.05).ConclusionHypoxia is involved in the oral cleft etiology, however, polymorphisms in HIF-1A are not associated with oral clefts in humans.

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DLX1 and MMP3 contribute to oral clefts with and without positive family history of cancer

Cited by 12 publications

References 40 publications

Potential genetic markers for nonsyndromic oral clefts in the Brazilian population: A systematic review and meta‐analysis

Potential genetic markers for nonsyndromic oral clefts in the Brazilian population: A systematic review and meta‐analysis

Epidemiological features of patients with nonsyndromic cleft lip and/or palate in Western Parana

Assessing the association between hypoxia during craniofacial development and oral clefts

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