Association of IRF6 rs2235371 Polymorphism with Non-Syndromic Cleft Lip/Palate: A Meta-analysis

Document Type : Systematic Review

Authors

1 Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

3 Stem Cell Biology Research Center, Yazd Reproductive Sciences Institute, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

4 Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran

5 Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

6 Hematology and Oncology Research Center, Shahid Sadoughi University of Medical Science, Yazd, Iran

Abstract

Background: The previous published data on the association between interferon regulatory factor 6 (IRF6) polymorphisms and non-syndromic Cleft Lip/Palate (NSCL ± P) risk remained inconclusive. The aim of this study was to conduct a meta-analysis to further assess the associations.
Methods: A comprehensivesearch in PubMed, EMBASE, Web of Science, and CNKI for all eligible studies up July 2021.
Results: A total of 23 studies with 6,161 cases and 8,919 controls were selected for this meta-analysis. Overall pooled analysis suggest a significant association between IRF6 rs2235371 polymorphism and CL±P risk under all the five genetic models, i.e., allele (A vs. G: OR=0.754, 95% CI 0.628-0.905, P=0.002), homozygote (AA vs. GG: OR=0.621 95% 0.405-0.953, P=0.029), heterozygote (AC vs. GG: OR=0.619, 95% CI 0.485-0.791, P≤0.001), dominant (AA+AG vs. GG: OR=0.550, 95% CI 0.381-0.794, P=0.001) and recessive model (AA vs. AG+GG: OR=0.583, 95% CI 0.423-0.804, P=0.001). Subgroup analysis by ethnicity showed that rs2235371 was associated with NSCL±P risk in Asians.
Conclusion: This meta-analysis provides strong evidences that IRF6 rs2235371 might be associated with risk of NSCL ± P.

Keywords

References

  1. Leslie EJ, Marazita ML. Genetics of cleft lip and cleft palate. Am J Med Genet C Semin Med Genet 2013; 163C(4): 246-58.
  2. Kohli SS, Kohli VS. A comprehensive review of the genetic basis of cleft lip and palate. Journal of Oral Maxillofac Pathol;  16(1): 64-72.
  3. Radu BM, Epureanu FB, Radu M, Fabene PF, Bertini G. Nonsteroidal anti-inflammatory drugs in clinical and experimental epilepsy. Epilepsy Res; 131: 15-27.
  4. Skuladottir H, Wilcox AJ, Ma C, Lammer EJ, Rasmussen SA, Werler MM, et al. Corticosteroid use and risk of orofacial clefts. Birth Defects Res A Clin Mol Teratol 2014; 100(6): 499-506.
  5. Tollemar V, Collier ZJ, Mohammed MK, Lee MJ, Ameer GA, Reid RR. Stem cells, growth factors and scaffolds in craniofacial regenerative medicine. Genes Dis 2016; 3(1): 56-71.
  6. Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. Cleft lip and palate. The Lancet 2009; 374(9703): 1773-85.
  7. Behnan SM, Guo C, Gong TW, Shum L, Gong SG. Gene and protein expression of Transforming growth factor β2 gene during murine primary palatogenesis, Differentiation 2005; 73(5): 233-9.
  8. Krivicka-Uzkurele B, Pilmane M, Akota I. Barx1, growth factors and apoptosis in facial tissue of children with clefts. Stomatologija 2008; 10(2): 62-6.
  9. Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, et al. Cleft palate, transforming growth factor alpha gene variants, and maternal exposures: Assessing gene-environment interactions in case-parent triads. Genetic Epidemiol 2003; 25(4): 367-74.
  10. Kurosaka H, Iulianella A, Williams T, Trainor PA. Disrupting hedgehog and WNT signaling interactions promotes cleft lip pathogenesis. J Clin Invest 2014; 124(4): 1660-71.
  11. A. Suzuki, D.R. Sangani, A. Ansari, J. Iwata, Molecular mechanisms of midfacial developmental defects. Dev Dyn 2016; 245(3): 276-93.
  12. Gou Y, Zhang T, Xu J. Transcription Factors in Craniofacial Development: From Receptor Signaling to Transcriptional and Epigenetic Regulation. Curr Top Dev Biol 2015; 115: 377-410.
  13. Jagomägi T, Nikopensius T, Krjutškov K, Tammekivi V, Viltrop T, Saag M, et al. MTHFR and MSX1 contribute to the risk of nonsyndromic cleft lip/palate. Eur J Oral Sci 2010; 118(3): 213-20.
  14. Wattanawong K, Rattanasiri S, McEvoy M, Attia J, Thakkinstian A. Association between IRF6 and 8q24 polymorphisms and nonsyndromic cleft lip with or without cleft palate: Systematic review and meta-analysis. Birth Defects Res A Clin Mol Teratol 2016; 106(9): 773-88.
  15. Wang M, Pan Y, Zhang Z, Wang L. Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 studies. Am J Med Genet A 2012; 158A(12): 3080-6.
  16. Xia Y, Hu B, Chen J, Zheng L, Song J. Association between the IRF6 rs2235371 polymorphism and the risk of nonsyndromic cleft lip with or without cleft palate in Chinese Han populations: A meta-analysis, Arch Oral Biol 2017; 84: 161-8.
  17. Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B, Ribeiro L, et al. Interferon Regulatory Factor 6 (IRF6) Gene Variants and the Risk of Isolated Cleft Lip or Palate. N Engl J Med 2004; 351(8): 769-80.
  18. Srichomthong C, Siriwan P, Shotelersuk V. Significant association between IRF6 820G->A and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 2005; 42(7): e46.
  19. Jugessur A, Rahimov F, Lie RT, Wilcox AJ, Gjessing HK, Nilsen RM, et al. Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. Genet Epidemiol 2008; 32(5): 413-24.
  20. Ali A, Singh SK, Raman R. MTHFR 677TT Alone and IRF6 820GG Together with MTHFR 677CT, but Not MTHFR A1298C, Are Risks for Nonsyndromic Cleft Lip with or without Cleft Palate in an Indian Population. Genet Test Mol Biomarkers 2009; 13(3): 355-60.
  21. Huang Y, Wu J, Ma J, Beaty TH, Sull JW, Zhu L, et al. Association between IRF6 SNPs and Oral Clefts in West China. J Dent Res 2009; 88(8): 715-8.
  22. Tang W, Du X, Feng F, Long J, Lin Y, Li P, et al. Tian, Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population. Cleft Palate Craniofac J 2009; 46(1): 89-92.
  23. Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, C., et al. Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 2009; 41(4): 473-7.
  24. Pan Y, Ma J, Zhang W, Du Y, Niu Y, Wang M, et al. IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population. Am J Med Genet A 2010; 152A(2010): 2505-11.
  25. Shen Y, Cui Y, Wan W, Zhou X, Cheng L, Lu Z, et al. Association of single nucleotide polymorphisms in IRF6 and TGFA genes with nonsyndromic cleft lip with or without cleft palate in Chinese patients. J Nanjing Med Univ 2009; 23(1): 40-5.
  26. Carter TC, Molloy AM, Pangilinan F, Troendle JF, Kirke PN, Conley MR, et al. Testing reported associations of genetic risk factors for oral clefts in a large Irish study population. Birth Defects Research. Birth Defects Res A Clin Mol Teratol 2010; 88(2): 84-93.
  27. Paranaíba LMR, Bufalino A, Martelli-Júnior H, de Barros LM, Graner E, Coletta RD. Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. Oral Dis 2010; 16(2): 193-7.
  28. Shi J, Song T, Jiao X, Qin C, Zhou J. Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population. Biochem Biophys Res Commun 2011; 410(4): 732-6.
  29. Letra A, Fakhouri W, Fonseca RF, Menezes R, Kempa I, Prasad JL, et al. Interaction between IRF6 and TGFA Genes Contribute to the Risk of Nonsyndromic Cleft Lip/Palate. PLoS One 2012; 7(9): e45441.
  30. Lu Y, Liu Q, Xu W, Li Z, Jiang M, Li X, et al. TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China. PLoS One 2013; 8(8): e70754.
  31. Song T, Wu D, Wang Y, Li H, Yin N, Zhao Z. SNPs and interaction analyses of IRF6, MSX1 and PAX9 genes in patients with non-syndromic cleft lip with or without palate. Mol Med Rep 2013; 8(4): 1228-34.
  32. Zhou Q, Li M, Zhu W, Guo J, Wang Y, Li Y, et al. Association Between Interferon Regulatory Factor 6 Gene Polymorphisms and Nonsyndromic Cleft Lip With or Without Cleft Palate in a Chinese Population. Cleft Palate Craniofac J 2013; 50(5): 570-6.
  33. Gurramkonda VB, Murthy J, Syed AH, Lakkakula BV. Lack of association between
    IRF6 polymorphisms and nonsyndromic oral clefts in South Indian population 2013; 1(1): 1-5.
  34. Rathore N, Dharma R, Dinesh MR, Amarnath BC, Prashanth CS, Shetty A, et al. Association of IRF6 (G820A) Gene Variant with Nonsyndromic Cleft Lip and Palate in South Indian Population. J Indian Orthod Soc 2014; 48(4): 245-50.
  35. Mijiti A, Ling W, Guli, Moming A. Association of single-nucleotide polymorphisms in the IRF6 gene with non-syndromic cleft lip with or without cleft palate in the Xinjiang Uyghur population. Br J Oral Maxillofac Surg 2015; 53(3): 268-74.
  36. Ibarra-Arce A, García-Álvarez M, Cortés-González D, de Zarate-Alarcón GO, Flores-Peña L, Sánchez-Camacho S,et al. IRF6 polymorphisms in Mexican patients with non-syndromic cleft lip. Meta Gene 2015; 4:
    8-16.
  37. Jafary F, Nadeali Z, Salehi M, Hosseinzadeh M, Sedghi M, Gholamrezapour T, et al. Significant association between nonsyndromic cleft lip with or without cleft palate and IRF6rs2235371 polymorphism in Iranian familiar population. Mol Biol (Mosk) 2015; 49(6): 848-52.
  38. Wu W, Hao J, Wang H, Hua L, Li F, Chen Y, et al. Association of polymorphisms of IRF6 to non-syndromic cleft lip with or without palate in a Guangdong population. Int J Clin Exp Med 2016; 9(6): 11732-9.
  39. Xu W, Han WT, Lu YP, Feng WH, Dai M. Association of single-nucleotide polymorphisms, rs2235371 and rs2013162, in the IRF6 gene with non-syndromic cleft palate in northeast China. Genet Mol Res 2016; 15(3).
World Journal of Peri and Neonatology
Volume 4, Issue 1
June 2021
Pages 14-22

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History

  • Receive Date: 14 September 2021
  • Accept Date: 14 September 2021

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