Association between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in a Chinese Population

Zhou, Qinyong; Li, Mengjie; Zhu, Wenli; Guo, Jinzhen; Wang, Yun; Li, Yong; Li, Shuqin

doi:10.1597/12-234

Cited by 17 publications

(12 citation statements)

References 26 publications

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“…However, our research did not indicate any association between the transmission of rs2235375 and NSOFC. This agrees with a case-control study in a Mexican population where there was no significant difference between CL(P) cases and controls in the frequency of rs2235375 (P=0.08) [22]. Also a case-control triad study by Zhou et al [23], in a Chinese population, found no significant association between rs2235371 and CL(P) using FBAT analysis.…”

Section: Discussionsupporting

confidence: 88%

“…However, the pregestational use of folic acid supplementation and presence of maternal IRF6 rs2235375 were found to be associated with NSOFC in the case-only study design. This finding was not supported by the Velázquez-Aragón et al [22] Mexican study. However, these differences may be related to differences in the study setting.…”

Section: Environmental Factors C* (%) a (%)contrasting

confidence: 60%

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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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Section: Discussionsupporting

confidence: 88%

Section: Environmental Factors C* (%) a (%)contrasting

confidence: 60%

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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“…Therefore, the study demonstrated that VWS had significant phenotypic differences. Certain reports have confirmed that the IRF6 gene is one of the pathogenic genes for VWS (13,14). The present study demonstrated that IRF6 is important in jaw development and fusion.…”

Section: Discussionsupporting

confidence: 82%

Association between genotype and phenotype of virulence gene in Van der Woude syndrome families

Zhang

Chen

et al. 2017

Mol Med Report

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Members from two Van der Woude syndrome (VWS) families were screened to determine the prevalence of interferon regulatory factor 6 (IRF6) as a disease‑causing gene and to analyze the interrelationships between patient genotype and phenotype. The peripheral blood of 24 members from two VWS families and 200 control samples were collected. The family members were interviewed for medical histories and other clinical abnormalities using questionnaires. Polymerase chain reaction was directly performed on the peripheral blood to screen for the coding region of the IRF6 gene. Of the 24 family members, a total of 6 patients had mutations of IRF6 gene. c.1234C>T (p.R412X) heterozygous mutation was detected in 3 members of family 1. In families 2 and 3, members carried the c.1210G>A (p.E404K) heterozygous mutations. The other members of the families, were wild type (wt/wt) for IRF6. Genetic testing demonstrated that the disease mutations c.1234C>T and c.1210G>A co‑segregated with the two families' pathogenic mutations. The existence of genetic heterogeneity and the complexity of the clinical phenotype was demonstrated in Chinese VWS patients.

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“…Regarding the possible function of noncoding regulatory sequences, SNP rs642961 located within AP-2α DNA binding site in the upstream enhancer region (MCS-9.7) of the IRF6 gene has been identified and associated with CL/P in populations of European and Filipino origin (Rahimov et al, 2008). Similar analyses for this noncoding SNP of the IRF6 gene and NSCL/P susceptibility were confirmed in the Central European population (Birnbaum et al, 2009) and in the Chinese Han population (Pan et al, 2010; Zhou et al, 2013); however, analyses showed mixed susceptibility in the Brazilian population present in Brito et al (2012), but not in Paranaíba et al (2010) and de Souza et al (2016). No susceptibility was seen in a non-Hispanic white group study (Blanton et al, 2010), in a Swedish/ Finnish origin group study (Pegelow et al, 2014), or in Iran (Kerameddin et al, 2015).…”

Section: Discussionsupporting

confidence: 68%

Association Studies Between Regulatory Regions ofIRF6/TP63Genes and Nonsyndromic Oral Clefts

Wu-Chou

Chen

et al. 2018

The Cleft Palate-Craniofacial Journal

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Objective: To evaluate genetic variants within the regulatory regions of interferon regulatory factor 6 (IRF6) and TP63 for the etiology of nonsyndromic oral clefts risk factors. Design: We performed allelic transmission disequilibrium test analysis on 5 eligible single-nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. Participants: The study sample consisted of 334 case–parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip/palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. Results: We found all 3 selected SNPs of the IRF6 gene show significant association with nonsyndromic oral clefts (rs2235371, P = 5.10E-07; rs642961, P = .00194; and rs77542756, P = 9.08E-07). Haplotype analyses identified 3 possible SNP combination haplotypes in the IRF6 gene and found that C-G-G showed significant undertransmission (P = .058), whereas 2 other haplotypes, T-G-A and C-A-G (P = 2.71E-06 and P = 5.00E-04, respectively), were significantly overtransmitted to the NSCL/P children but not to the NSCPO children. For the TP63 gene, we failed to detect evidence of nonsyndromic oral cleft association in the 2 SNPs within the TP63 large intron 1 region. Conclusions: We used a family-based analysis in 334 Taiwanese case–parent trios to evaluate selected SNPs of IRF6 genes and TP63 genes for a risk of orofacial clefting. This study provides additional evidence for an association between IRF6 and NSCL/P, including the genetic variants within the 5′-noncoding region of the gene. We also confirmed that NSCL/P and NSCPO individuals belong to different groups. For the TP63, our data did not favor the direct involvement of TAp63 isoforms during orofacial development.

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Association between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in a Chinese Population

Cited by 17 publications

References 26 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

Association between genotype and phenotype of virulence gene in Van der Woude syndrome families

Association Studies Between Regulatory Regions ofIRF6/TP63Genes and Nonsyndromic Oral Clefts

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