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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

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Abstract

Background

The interferon regulatory factor 6 (IRF6) gene, which causes Van der Woude syndrome, is associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P). Single nucleotide polymorphisms (SNPs) in the IRF6 gene were identified as susceptibility indicators of this defect in several populations. To further evaluate its role in this birth defect, we conducted this study with the aim of identifying allele frequencies, genotype frequencies, and associations of 5 SNPs (rs2235373, rs2235371, rs2235375, rs2013162, and rs2236907) in the IRF6 gene with NSCL/P in Kinh Vietnamese patients.

Methods

A total of 132 patients with NSCL/P and 132 healthy individuals were included in our study group. Direct sequencing was performed to genotype the tag SNPs. Genetic models were used to compare genotype and allele frequencies between the case and control groups.

Results

In the recessive model, the genotypes C/C of rs2236907, C/C of rs2013162, G/G of rs2235375, and A/A of rs2235373 were associated with an increased risk of NSCL/P, whereas there was no clear association between rs2235371 and the malformation in any genetic model. When subgroup analysis was performed, we observed a similar risk trend in the cleft lip and palate, cleft palate only and cleft lip only phenotypes. In haplotype analysis, haplotype models of 5 tag SNPs were associated with increased risks of this defect in all phenotypic models (ORGCGCC/CCAA = 23.64, 95% CI 12.28–45.49, p < 0.0001).

Conclusions

These findings point to a considerable contribution of rs2236907, rs2013162, rs2235373, and rs2235375 to the NSCL/P defect in Kinh Vietnamese individuals.

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Acknowledgements

The authors are grateful to all the individuals who made this study possible, especially the patients, their parents, and the control subjects who voluntarily participated in this research.

Funding

This research received no external funding.

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Authors and Affiliations

  1. Faculty of Odonto-Stomatology, National University Ho Chi Minh City, Ho Chi Minh City, Vietnam

    Hoanh Duy Ba Phan

  2. Department of Oral and Maxillofacial Surgery, University Medical Center, Ho Chi Minh City, Vietnam

    Hoanh Duy Ba Phan

  3. Faculty of Odonto-Stomatology, Hong Bang International University, Ho Chi Minh City, Vietnam

    Lam Hoai Phuong

  4. Faculty of Public Health, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam

    Tran Ngoc Dang

  5. Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam

    Duong Bich Tram & Hoang Anh Vu

Authors
  1. Hoanh Duy Ba Phan
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  2. Lam Hoai Phuong
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  3. Tran Ngoc Dang
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  4. Duong Bich Tram
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  5. Hoang Anh Vu
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Contributions

Research concept and design: HDBP, LHP, HAV; collection and/or assembly of data: HDBP, LHP; design and perform the experiments: HDBP, HAV, DBT; data analysis and interpretation: HDBP, HAV, TND; writing the article: HDBP, HAV; critical revision of the article: HDBP, HAV; final approval of article: HDBP, LHP, HAV, TND, DBT.

Corresponding author

Correspondence to Hoang Anh Vu.

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Conflicts of interest

The authors have declared that no conflicts of interest exist.

Ethical approval

This study was approved by the Ethics Committee of University of Medicine and Pharmacy at Ho Chi Minh City, Vietnam (Approval Number 635/DHYD-HDDD).

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Phan, H.D.B., Phuong, L.H., Dang, T.N. et al. Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients. Mol Biol Rep 50, 1469–1476 (2023). https://doi.org/10.1007/s11033-022-08164-9

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  • DOI: https://doi.org/10.1007/s11033-022-08164-9

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