Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

Suazo, José; Recabarren, Andrea S; Marín, Nicolás R.; Blanco, Rafael

doi:10.1007/s43032-020-00203-9

Cited by 5 publications

(3 citation statements)

References 32 publications

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“…In the recessive models, NSCL/P was associated with a protective effect of rs2235375 by decreasing the number of GG genotypes (p rec = 0.0011). On the one hand, these results are consistent with various previous reports in different populations, such as Italian [37], Chinese [38], Chilean [39] and Norwegian [26]. On the other hand, rs2235375 remained non-associated with the Mexican cleft population in the Velázquez-Aragón et al study [40].…”

Section: Discussionsupporting

confidence: 90%

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case–Control and Family-Based Study

Pham,

Niimi,

Suzuki

et al. 2023

Genes

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This study aims to identify potential variants in the TP63–IRF6 pathway and GREM1 for the etiology of non-syndromic orofacial cleft (NSOFC) among the Vietnamese population. By collecting 527 case–parent trios and 527 control samples, we conducted a stratified analysis based on different NSOFC phenotypes, using allelic, dominant, recessive and over-dominant models for case–control analyses, and family-based association tests for case–parent trios. Haplotype and linkage disequilibrium analyses were also conducted. IRF6 rs2235375 showed a significant association with an increased risk for non-syndromic cleft lip and palate (NSCLP) and cleft lip with or without cleft palate (NSCL/P) in the G allele, with pallele values of 0.0018 and 0.0003, respectively. Due to the recessive model (p = 0.0011) for the NSCL/P group, the reduced frequency of the GG genotype of rs2235375 was associated with a protective effect against NSCL/P. Additionally, offspring who inherited the G allele at rs2235375 had a 1.34-fold increased risk of NSCL/P compared to the C allele holders. IRF6 rs846810 and a G-G haplotype at rs2235375–rs846810 of IRF6 impacted NSCL/P, with p-values of 0.0015 and 0.0003, respectively. In conclusion, our study provided additional evidence for the association of IRF6 rs2235375 with NSCLP and NSCL/P. We also identified IRF6 rs846810 as a novel marker associated with NSCL/P, and haplotypes G-G and C-A at rs2235375–rs846810 of IRF6 associated with NSOFC.

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Section: Discussionsupporting

confidence: 90%

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case–Control and Family-Based Study

Pham,

Niimi,

Suzuki

et al. 2023

Genes

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“…IRF6 rs2235375 variant has also been significantly associated with increased risk of NSCL/P in co-dominant, dominant (OR=1.2), and allelic models (OR=1.4) in Indian population 18 . Furthermore, a new study in Chilean population indicated that C allele of rs2235375 seems to be a risk factor for NSCL/P 19 . In a recent study by Xu et al there was a significant difference in both genotypic and allelic distributions between patients and controls at rs2013162.…”

Section: Discussionmentioning

confidence: 99%

Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

Soleymani¹,

Ebadifar²,

Khosravi³

et al. 2022

AJMB

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Background: Non-syndromic cleft lip occurs by the interaction of environmental and genetic factors. The purpose of the current study was to analyze the association of Single Nucleotide Polymorphisms (SNPs) in IRF6 and NSCL/P in an Iranian population. Methods: A group of 105 children with NSCL/P and 185 normal controls were included in the current study. Genotyping of IRF6 rs2013162 and rs2235375 was performed by Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. Results: A substantial association of AA and CA genotypes in rs2013162 with the risk of NSCL/P (AA vs. CC; OR=2.36; 95%CI [1.05-5.29], p=0.004; and CA vs. CC; OR=0.47; 95%CI [0.28-0.79], p=0.018) was found. However, there were no important associations between A allele and risk of NSCL/P (p=0.980). According to logistic regression analysis results, subjects with GG genotype and G allele in rs2235375 polymorphism had increased risk of NSCL/P. Conclusion: The IRF6 polymorphisms are associated with the susceptibility to NSCL/P in Iranian population.

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“…25 In comparison, Suazo et al reported that the C allele of rs2235375 from the IRF6 gene seemed to be a risk factor for NS CLP in the Chilean population. 26 Furthermore, a genetic variant of IRF6 might be a protective factor against NS CLP, while the Rsa1 gene variant (the A allele) could be consi dered the risk factor associated with the development of NS CLP. 27 Individuals heterozygous for this specific polymorphism (the GA genotype) are at lower risk of the recurrence of CLP than those who are homozygous for the G allele (the GG genotype).…”

Section: Discussionmentioning

confidence: 99%

IRF6 rs2235371 as a risk factor for non-syndromic cleft palate only among the Deutero-Malay race in Indonesia and its effect on the IRF6 mRNA expression level

Nasroen¹,

Maskoen²,

Soedjana³

et al. 2022

Dent. Med. Probl.

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Background. During the early embryological development of the face, complex orofacial failure results in a non-syndromic cleft lip and palate (NS CLP). The interferon regulatory factor 6 gene (IRF6) rs2235371 is a non-synonymous polymorphism that is one of the strong candidate genes associated with NS CLP.Objectives. The purpose of this study was to determine IRF6 rs2235371 as a risk factor for NS CLP and its phenotypes, including complete unilateral cleft lip and palate (CUCLP), bilateral cleft lip and palate (BCLP), cleft lip only (CL), and cleft palate only (CP), as well as to examine the effect of the polymorphism on the IRF6 mRNA expression levels among the Deutero-Malay race in Indonesia. Material and methods.This study used a case-control design and enrolled 264 samples, including 158 NS CLP cases (42 NS CUCLP, 34 NS BCLP, 33 NS CL, and 49 NS CP) and 106 control subjects. DNA was extracted from venous blood, and then subjected to polymerase chain reaction (PCR) and sequencing. The odds ratio (OR) was used to determine the risk factor for NS CLP and its phenotypes. The Livak, Kruskal-Wallis and Mann-Whitney U tests were used to determine mRNA expression levels in the oral epithelium, followed by real-time quantitative PCR (RT-qPCR).Results. Among all of the NS CLP cases, in the NS CP phenotype, OR for the A mutant allele and the GA genotype was 2,492 (p = 0.017) and 2,114 (p = 0.048), respectively. The IRF6 mRNA expression level of the GA genotype was higher in the NS CP subjects as compared to the GG genotype (p = 0.031). Conclusions.The IRF6 rs2235371 polymorphism is associated with the NS CP phenotype in Deutero-Malay patients from Indonesia and it affects the IRF6 mRNA expression level.

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Association Between IRF6 Variants and Nonsyndromic Cleft Lip With or Without Cleft Palate in Chile

Cited by 5 publications

References 32 publications

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case–Control and Family-Based Study

Association between IRF6, TP63, GREM1 Gene Polymorphisms and Non-Syndromic Orofacial Cleft Phenotypes in Vietnamese Population: A Case–Control and Family-Based Study

Association of rs2013162 and rs2235375 Polymorphisms in IRF6 Gene with Susceptibility to Non-Syndromic Cleft Lip and Palate

IRF6 rs2235371 as a risk factor for non-syndromic cleft palate only among the Deutero-Malay race in Indonesia and its effect on the IRF6 mRNA expression level

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