Association of interactions among the <i>IRF6</i> gene, the 8q24 region, and maternal folic acid intake with non‐syndromic cleft lip/palate in Mexican Mestizos

Velázquez-Aragón, José A.; Alcántara-Ortigoza, Miguel Ángel; Estandía-Ortega, Bernardette; Reyna-Fabián, Miriam E.; Cruz-Fuentes, Carlos; Villagómez, Sandra; Ángel, Ariadna González-del

doi:10.1002/ajmg.a.35641

Cited by 16 publications

(31 citation statements)

References 13 publications

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“…This finding is supported by other studies that investigated the relationship between NSOFC and IRF6 and included CP cases in their sample [6,14,21].…”

Section: Discussionsupporting

confidence: 83%

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Interferon Regulatory Factor 6 (IRF6) and Gene – Environment Interactions in Non-Syndromic Orofacial Cleft Cases in Saudi Arabia-A Case Control Study

Alamoudi¹,

Sabbagh²,

Innes³

et al. 2018

J Oral Hyg Health

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The association between interferon regulatory factor 6 (IRF6) and nonsyndromic orofacial cleft (NSOFC) is affected by ethnicity. Also, gene-environment interactions (GEI) may play an important role in its etiology.Objectives: This case-control study investigated whether IRF6 gene variants were associated with NSOFC in Saudi Arabian population and whether the gene was affected by maternal environmental exposures. Methods:We extracted DNA from saliva samples obtained from 171 infant-parent triad cases and 189 matched controls (age, gender, and location) from January 2010-December 2011; this study included a total of 11 referral hospitals in Saudi Arabia. IRF6 (rs2013162, rs2235375, and rs2235371) polymorphisms were genotyped using restriction-digestion polymerase chain reaction. Data on environmental exposures, for GEI analyses, were collected through questionnaire-led interviews with parents. Results:We found statistically significant over transmission of the common IRF6 rs2013162 allele among cleft lip with or without palate CL(P) cases. No associations were found for either of the other two IRF6 SNPs. Maternal exposure to antipyretics, folic acid, fever, antibiotics, illnesses, common cold/flu, paternal water pipe smoking, stress, x-rays, and/or chemicals could significantly interact with the maternal IRF6 (rs2013162 and rs2235375) gene variants, affecting the likelihood of having an offspring with NSOFC. Conclusion:The common allele at IRF6 rs2013162 was significantly over transmitted among CL(P) cases. This study provides hypotheses for future investigations into genetic and environmental factors and their interaction in the etiology of NSOFC.

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“…This finding is supported by other studies that investigated the relationship between NSOFC and IRF6 and included CP cases in their sample [6,14,21].…”

Section: Discussionsupporting

confidence: 83%

“…Huang et al [21] in Western China reported an association between the transmission of rs2235375 and rs2235371 (C/T) markers and CL(P). However, our research did not indicate any association between the transmission of rs2235375 and NSOFC.…”

Section: Discussionmentioning

confidence: 99%

Interferon Regulatory Factor 6 (IRF6) and Gene – Environment Interactions in Non-Syndromic Orofacial Cleft Cases in Saudi Arabia-A Case Control Study

Alamoudi¹,

Sabbagh²,

Innes³

et al. 2018

J Oral Hyg Health

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“…Multifactor Dimensionality Reduction is a comprehensive and flexible framework for detecting gene–gene interactions that utilizes machine learning methods and constructive induction. Multifactor Dimensionality Reduction identified gene–gene interactions between IRF6 and 8q24 single nucleotide polymorphisms in NSCL/P . However, our MDR analysis did not show any interaction between the MTHFR variants and folic acid intake.…”

Section: Discussionmentioning

confidence: 99%

5,10‐Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene–environment interaction analysis in non‐syndromic cleft lip/palate

Estandía-Ortega

Velázquez-Aragón

Alcántara-Ortigoza

et al. 2014

European J Oral Sciences

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Non-syndromic cleft lip/palate (NSCL/P) is a common congenital defect in Mexico. Periconceptional intake of folic acid (FA) may reduce the risk of this malformation. Although the 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme participates in folate metabolism, several studies failed to find any association between NSCL/P and the MTHFR C677T and A1298C polymorphisms. However, interactions among NSCL/P, MTHFR gene polymorphisms, and FA intake have not been explored in Mexican populations. This case-control study included 132 patients with NSCL/P and 370 controls from Mexico City. Maternal FA consumption during pregnancy was examined, as were the MTHFR C677T and A1298C polymorphisms and gene-FA interactions. Maternal FA intake during the periconceptional period was lower in cases (1.5%) than in controls (13%), with the risk of delivering a child with NSCL/P lower in mothers who consumed FA (OR = 0.29, 95% CI: 0.19-0.44). In addition, the risk of NSCL/P was lower in children with the TT than the CC genotype of MTHFR C677T (OR = 0.39, 95% CI: 0.23-0.68), after Bonferroni correction and exclusion of stratification. No evidence of gene-FA interaction was found. These results indicate that maternal FA intake and the TT genotype of the MTHFR C677T polymorphism in children independently reduced the risk of NSCL/P in our population.

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“…Figure outlines the study selection process in a flowchart following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta‐Analyses) guidelines (Table ). A total of 142 citations during the initial search were followed by a series of omissions (S1 List A) that eventually yielded 15 articles for inclusion in the meta‐analysis (Cardoso et al, ; Gurramkonda, Syed, Murthy, & Lakkakula, ; Hong et al, ; Huang et al, ; Ibarra‐Arce et al, ; Jagomagi et al, ; Ma et al, ; Mostowska et al, ; Park et al, ; Rafighdoost et al, ; Seo, Park, Kim, & Baek, ; Song et al, ; Sun et al, ; Tongkobpetch, Siriwan, & Shotelersuk, ; Velazquez‐Aragon et al, ).…”

Section: Resultsmentioning

confidence: 99%

“…Table shows the 15 articles covering the years from 2006 to 2017. Subjects in six articles were Caucasian (Cardoso et al, ; Ibarra‐Arce et al, ; Jagomagi et al, ; Rafighdoost et al, ; Tongkobpetch et al, ; Velazquez‐Aragon et al, ), and the remaining nine were Asian (Gurramkonda et al, ; Hong et al, ; Huang et al, ; Ma et al, ; Park et al, ; Seo et al, ; Song et al, ; Sun et al, ; Tongkobpetch et al, ). Controls matching with cases were found in nine articles (Cardoso et al, ; Hong et al, ; Huang et al, ; Ibarra‐Arce et al, ; Ma et al, ; Mostowska et al, ; Rafighdoost et al, ; Song et al, ; Sun et al, ).…”

Section: Resultsmentioning

confidence: 99%

MSX1 gene polymorphisms and non‐syndromic cleft lip with or without palate (NSCL/P): A meta‐analysis

et al. 2019

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Objective Non‐syndromic cleft lip, with or without cleft palate (NSCL/P), is a common craniofacial birth defect, the risk of which is influenced from multiple genetic loci. Association study outcomes between single nucleotide polymorphisms (SNPs) near the muscle segment homeobox gene 1 (MSX1) and NSCL/P have been inconsistent. This compels a meta‐analysis to obtain more precise estimates. Methods From 15 publications, we examined 12 SNPs under six groups (SG), based on linkage disequilibrium. Pooled odds ratios and 95% confidence intervals were calculated under the standard genetic models. The pooled effects were subjected to subgroup, outlier, sensitivity, and funnel plot (publication bias) analyses. Results Three of the six SGs showed significant associations. SG1 and SG4 effects indicated reduced risks. SG1 outcomes were attributed to outlier treatment, which the Asian outcomes validated. In contrast, increased risks were observed in SG3. All these significant outcomes were deemed robust by sensitivity analysis with no evidence of publication bias. Conclusions Our study shows eight MSX1 SNPs associated with risk of NSCL/P. SG1 and SG4 carriers are protected (up to 23%), but SG3 carriers are 1.3‐fold susceptible. Outlier treatment unmasked the significant associations in SG1. Non‐heterogeneity and robustness helped elevate the level of evidence in our significant findings.

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Association of interactions among the IRF6 gene, the 8q24 region, and maternal folic acid intake with non‐syndromic cleft lip/palate in Mexican Mestizos

Cited by 16 publications

References 13 publications

Interferon Regulatory Factor 6 (IRF6) and Gene – Environment Interactions in Non-Syndromic Orofacial Cleft Cases in Saudi Arabia-A Case Control Study

Interferon Regulatory Factor 6 (IRF6) and Gene – Environment Interactions in Non-Syndromic Orofacial Cleft Cases in Saudi Arabia-A Case Control Study

5,10‐Methylenetetrahydrofolate reductase single nucleotide polymorphisms and gene–environment interaction analysis in non‐syndromic cleft lip/palate

MSX1 gene polymorphisms and non‐syndromic cleft lip with or without palate (NSCL/P): A meta‐analysis

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