IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate

Bezerra, João Felipe; Silva, Heglayne Pereira Vital da; Bortolin, Raul Hernandes; Luchessi, André Ducati; Ururahy, Marcela Abbott Galvão; Loureiro, Melina Bezerra; Gil-da-Silva-Lopes, Vera Lúcia; Almeida, Maria das Graças; Amaral, Viviane Souza do; Rezende, Adriana Augusto de

doi:10.1016/j.bjorl.2019.04.011

Cited by 10 publications

(14 citation statements)

References 34 publications

(54 reference statements)

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“…The genotype and allele frequencies of the SNP rs2235371 showed significant differences in patients with cleft palate when compared to the control group. However, no association was observed between SNPs rs642961, rs2236907, rs861019 and rs1044516 and nonsyndromic orofacial clefts [42]. However, this association must be interpreted with care due to the low number of studied individuals.…”

Section: Genetic Factors Involved In Cleft Lip/palate Developmentmentioning

confidence: 91%

“…The results allowed to identify new risk loci for these conditions, and new genes involved in craniofacial development have been suggested, confirming the highly heterogeneous etiology of orofacial clefts. Although several genes have been identified as genetic risk factors, the IRF6 gene coding for the interferon regulatory factor 6, is the best documented genetic risk factor [16] [28] [42].…”

Section: Genetic Factors Involved In Cleft Lip/palate Developmentmentioning

confidence: 99%

“…Among the more than 15 loci of susceptibility to non-syndromic orofacial clefts, with considerable statistical and biological support, IRF6 is the gene most validated by most studies. The purpose of the study of reference [42] was to investigate the association of the IRF6 gene polymorphisms with the development of non-syndromic orofacial clefts in a population in the north-eastern Brazil. The SNPs rs2235371, rs642961, rs2236907, rs861019 and rs1044516 of the IRF6 gene were analyzed.…”

Section: Genetic Factors Involved In Cleft Lip/palate Developmentmentioning

confidence: 99%

See 2 more Smart Citations

Genetic And Environmental Factors Involved In The Development Of Oral Malformations Such As Cleft Lip/Palate In Non-Syndromic Patients And Open Bite Malocclusion

Leal

Lemos

Costa

et al. 2020

EJMED

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Among the most common malformations observed in the oral cavity are cleft lip/palate and malocclusions, being this last one considered by the World Health Organization, the third public health problem.Malocclusions include the anterior open bite, a change in the vertical plane, that can be of two types: dental anterior open bite and skeletal anterior open bite. Cleft lip and cleft palate are the most common congenital malformations at birth. These malformations result from a failure in the normal craniofacial development process, which requires the coordination of a complex series of events. From the embryological point of view, the cleft lip/palate is a consequence of the failure of the first superior branchial arch to complete fusion with the frontonasal process during pregnancy.All these malformations result from the interaction of both genetic and environmental factors. Among the environmental factors involved in the development of malocclusions are deleterious habits, mouth breathing and trauma. Several genes involved in the development of facial bones, muscles and teeth are also responsible for the development of malocclusions. In the same way, clefts development is a multifactorial trait where multiple genes are involved as well as environmental factor like alcohol consumption, tobacco, exposure to pesticides or toxic solvents, in a complex interaction.All these factors may jeopardize the normal functioning of the stomatognathic system and the consequent quality of life of the patient. The purpose of this study was to review the literature concerning the genetic and environmental aspects involved in the development of these malformations.

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Section: Genetic Factors Involved In Cleft Lip/palate Developmentmentioning

confidence: 91%

Section: Genetic Factors Involved In Cleft Lip/palate Developmentmentioning

confidence: 99%

Section: Genetic Factors Involved In Cleft Lip/palate Developmentmentioning

confidence: 99%

See 1 more Smart Citation

Genetic And Environmental Factors Involved In The Development Of Oral Malformations Such As Cleft Lip/Palate In Non-Syndromic Patients And Open Bite Malocclusion

Leal

Lemos

Costa

et al. 2020

EJMED

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“…Reliable associations of gene variations (IRF6, MDR1, and MTHFR) with an increased risk for CLP, CL, and CP have been obtained in different populations. (1)(2)(3)(4)(5) IRF6 is a protein encoded by the IRF6 gene in humans. This gene encodes a member of the interferon regulatory transcription factor family.…”

Section: Introductionmentioning

confidence: 99%

“…In addition, variants of the IRF6 gene have a demonstrated association with congenital clefts of the oral cavity. (1,2) Functional SNPs in the MDR1 gene can affect the expression and activity of transport proteins located on the apical and basolateral surfaces of syncytiotrophoblast and endothelial cells of fetal placental fetal capillaries. These proteins are able to remove toxins or drugs from the environment that enter the mother's body, into the mother's bloodstream, and can lead to an altered response of the fetus on xenobiotics and a subsequent increase in the risk of complex genetic disorders or birth defects.…”

Section: Introductionmentioning

confidence: 99%

Genetic Predictors for the Development of Congenital Orofacial Clefts

Pavlova¹,

Kurtanov²,

Diakonova³

et al. 2020

IJBM

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Background:The aim of this study was to search for associations between polymorphisms of the IRF6, MDR1, and MTHFR genes and the risk of congenital orofacial cleft (OFCs) among the population of the Republic of Sakha (Yakutia). Methods and Results:The sample of the studied individuals consisted of 94 children (46 girls and 48 boys) with OFCs and their parents (75 mothers and 18 fathers). The children with OFCs were divided into 3 groups. Group 1 included 48 children with cleft lip and palate (CLP); Group 2 included 22 children with cleft lip (CL); Group 3 included 24 children with cleft palate (CP). The comparison group included 156 healthy volunteers (118 women and 38 men) who did not have a history of relatives with OFCs. Analysis of the distribution of alleles and genotypes of studied SNPs in children with all OFCs and healthy children showed a significant (P=0.000) difference only in MDR1 genetic variant rs1045642 SNP. The carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with increased risk of OFCs (OR=2.711, 95% CI=1.459-5.037; P=0.000). Analysis of the frequency distribution of alleles and genotypes depending on the severity of clefts showed that the carriage of the TT genotype of the MDR1 rs1045642 SNP was associated with significant risk for development of CL (OR=3.114; 95% CI=1.123-8.634) and CLP (OR=2.804; 95% CI=1.333-5.895). In children with CP, we found significant risk with carriage of the TT genotype of the IRF6 rs2235371 SNP (OR=5.429, 95% CI=1. 135-25.962; P=0.035). Conclusion:A study of four SNPs in the IRF6, MDR1, and MTHFR genes revealed statistically significant increased risks for OFCs in carriers of the TT genotype of the MDR1 rs1045642 SNP; in addition, the carriage of the TT genotype of the IRF6 rs2235371 SNP significantly increased the risk of CP development.

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Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients

et al. 2022

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IRF6 polymorphisms in Brazilian patients with non-syndromic cleft lip with or without palate

Cited by 10 publications

References 34 publications

Genetic And Environmental Factors Involved In The Development Of Oral Malformations Such As Cleft Lip/Palate In Non-Syndromic Patients And Open Bite Malocclusion

Genetic And Environmental Factors Involved In The Development Of Oral Malformations Such As Cleft Lip/Palate In Non-Syndromic Patients And Open Bite Malocclusion

Genetic Predictors for the Development of Congenital Orofacial Clefts

Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients

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