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

Machado, Renato Assis; Toledo, Isabela Porto de; Martelli‐Júnior, Hercílio; Reis, Sílvia Regina de Almeida; Guerra, Eliete Neves Silva; Coletta, Ricardo D.

doi:10.1002/bdr2.1208

Cited by 23 publications

(32 citation statements)

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“…As the proportion of African ancestry of the Brazilian population affects the genetic susceptibility to NSCL±P [Brito et al, ; Bagordakis et al, ; de Aquino et al, ; do Rego Borges et al, ; Messetti et al, ; Machado et al, ], and the frequency of risk alleles at some of selected SNP differ according to ethnicity, specially between African and Caucasian populations, we performed similar analyses in the subgroups of samples showing high European ancestry and high African ancestry. In the subgroup with high European ancestry, the average of European ancestry was higher than 90% in both groups (Supplementary Fig.…”

Section: Resultsmentioning

confidence: 99%

“…As 2017; Machado et al, 2018], and the frequency of risk alleles at some of selected SNP differ according to ethnicity, specially between African and Caucasian populations, we performed similar analyses in the subgroups of samples showing high European ancestry and high African ancestry. In the subgroup with high European ancestry, the average of European ancestry was higher than 90% in both groups ( Supplementary Fig.…”

Section: Resultsmentioning

confidence: 99%

“…Indeed, previous studies with PON genotypes and phenotypes in different ethnic populations have revealed significant variations in both allele and haplotype frequencies and enzyme activities [Koda et al, ; Rojas‐García et al, ; Holland et al, ]. The Brazilian population is highly heterogeneous and admixed, a fact that has far‐reaching implications to NSCL±P susceptibility [Brito et al, ; Bagordakis et al, ; de Aquino et al, ; do Rego Borges et al, ; Messetti et al, ; Machado et al, ]. The extent of admixture is well documented in a wealth of population genetic studies in Brazilians, and it is evident that most individuals have significant degrees of European, African, and Amerindian ancestry.…”

Section: Discussionmentioning

confidence: 99%

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Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Machado

Silva

Persuhn

et al. 2018

Environ and Mol Mutagen

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During development, oxidative stress is hypothesized to mediate embryotoxicity, which may be intensified by exposition to environmental factors and by genetic variations in the enzymes involved in protecting cells from these damaging effects, including superoxide dismutase (SOD) and paraoxonase (PON). The aim of this study was to evaluate the influence of single‐nucleotide polymorphisms (SNP) in genes associated with the neutralization of oxidative stress (SOD and PON family members) in the risk of nonsyndromic oral cleft in the Brazilian population. Initially, we tested for association between 28 SNP in SOD1, SOD2, SOD3, PON1, PON2, and PON3 among 325 nonsyndromic cleft lip with or without cleft palate (NSCL±P) case‐parent trios. Multiple logistic regression analyses were used to explore gene, GxG and GxE, involving factors that induce oxidative stress accumulation during pregnancy. Signals still significant after both Bonferroni correction and in permutation test were subsequently confirmed in an ancestry‐structured case–control analysis with 722 NSCL±P and 866 controls from the same population. In the trio sample, transmission disequilibrium test (TDT) (allele and haplotype) and GxE analysis showed no significant associations, but multiple pairwise GxG interactions involving 10 SNP in PON1, PON2, and PON3 were detected and further examined in the case–control sample. The PON1 rs2237583 and PON2 rs17166879 yielded significant evidence of SNP‐SNP interactions after adjustment for multiple tests (both Bonferroni correction and 10,000 permutation test). The C allele and the CT genotype of PON1 rs2237583 were associated with significant protective effects against NSCL±P, while rs3917490 showed a significant association only in the sample composed of patients displaying high African ancestry. Our results reveal associations between rs2237583 and rs3917490 in PON1 and GxG interactions containing rs2237583 and rs17166879 with the susceptibility of NSCL±P in the Brazilian population. Furthermore, this study underlines the recent tendency of taking into account potential GxG interactions to clarify the underlying mechanisms associated with the etiology of this common malformation. Environ. Mol. Mutagen. 60: 185–196, 2019. © 2018 Wiley Periodicals, Inc.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Machado

Silva

Persuhn

et al. 2018

Environ and Mol Mutagen

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“…However, previous studies investigating IRF6 in the context of NSCLP have produced controversial results. While some studies identified IRF6 mutations and polymorphisms associated with the disorder, others did not identify any IRF6 mutations associated with non‐syndromic cleft lip and/or palate pathogenesis (Assis Machado et al, ; Brito et al, ; Butali et al, ; Cuddapah, Kominek, Grant, & Robin, ; de Souza et al, ; Desmyter et al, ; do Rego Borges, ; Jehee et al, ; Khandelwal et al, ; Larrabee et al, ; Leslie et al, ; Paranaiba et al, ; Pegelow et al, ; Rutledge, Barger, Grant, & Robin, ).…”

Section: Introductionmentioning

confidence: 99%

Novel rare variations in IRF6 in subjects with non‐syndromic cleft lip and palate and dental agenesis

et al. 2018

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“…The global prevalence of NOC is approximately 1:700 live births (Dixon, Marazita, Beaty, & Murray, ), but in Brazil, with considerable geographic variation, the prevalence ranges from 1:650 to 1:2,700 live births (Martelli‐Junior et al, ; Rodrigues, Sena, Roncalli, & Ferreira, ). NOC etiology is recognized as complex and heterogeneous, and though our understanding behind this malformation is evolving, the exact environmental and genetic risk factors associated remains not fully defined (Assis Machado et al, ; Beaty, Marazita, & Leslie, ). Many studies have supported the participation of maternal contact with agrotoxics, smoking, alcohol and some drugs, and folate supplementation during early pregnancy as the main environmental factors related to NOC etiology (Molina‐Solana, Yáñez‐Vico, Iglesias‐Linares, Mendoza‐Mendoza, & Solano‐Reina, ; Spinder et al, ; Xiao, Liu, Liu, Zhang, & Xue, ; Xuan et al, ).…”

Section: Introductionmentioning

confidence: 99%

Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Viena

Machado

Persuhn

et al. 2018

Birth Defects Research

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Background GREM1, which encodes Gremlin 1, an antagonist of bone morphogenic proteins with effects on proliferation and apoptosis, has been considered a candidate gene for nonsyndromic cleft lip with or without cleft palate (NSCL±P). In this study, we investigated potential associations of single nucleotide polymorphisms (SNP) in GREM1 and NSCL±P risk in the Brazilian population. Additionally, SNP‐SNP interactions of GREM1 with previously reported rs1880646 variant in NTN1 (netrin 1), a gene also responsible for apoptotic phenotypes were verified. Methods Applying Taqman allelic discrimination assays, we evaluated the variants rs16969681, rs16969816, rs16969862, and rs1258763 in 325 case‐parent trios and in 1,588 isolated samples in a case‐control study. Allelic and genotypic analyses, as well as interaction tests assessing gene‐environmental factor (GxE) and SNP‐SNP interaction with rs1880646 variant in NTN1, were performed based on logistic regression analysis adjusted for the effects of gender and genomic ancestry proportions. Results The risk alleles of all SNP were undertransmitted in NSCL±P trios, though the case‐control analysis confirmed only the association with rs16969862 alleles (OR: 0.78, 95% CI: 0.63–0.96, p = .02). The GxE interaction analysis revealed a significant interaction between maternal environmental contact with agrotoxics and rs16969816 (OR: 0.25, 95% CI: 0.08–0.74, p = .01), and pairwise interaction test with NTN1 rs1880646 yielded significant p values in the 1,000 permutation test for rs16969681, rs16969816, and rs16969862. Conclusion The GREM1 is involved in the etiology of NSCL±P in the Brazilian population and reveal that the interaction between GREM1 and NTN1 may be related with the pathogenesis of this common craniofacial malformation.

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

Cited by 23 publications

References 99 publications

Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Interactions between superoxide dismutase and paraoxonase polymorphic variants in nonsyndromic cleft lip with or without cleft palate in the Brazilian population

Novel rare variations in IRF6 in subjects with non‐syndromic cleft lip and palate and dental agenesis

Understanding the participation of GREM1 polymorphisms in nonsyndromic cleft lip with or without cleft palate in the Brazilian population

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