Association between Transforming Growth Factor Alpha TaqI Polymorphism and Susceptibility to the Nonsyndromic Cleft Lip and/or Palate in an Iranian Population: A Case Control Study

Authors

1 Department of Surgery, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

2 Department of Health Care Management, Bam University of Medical Sciences, Bam, Iran

3 Department of Basic Science, Faculty of Veterinary Medicine, Ardakan University, Ardakan, Iran

4 Department of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

5 Department of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

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

Abstract

Background: The TGF-α TaqI C >T polymorphism is a well-characterized variant for nonsyndromic cleft lip and/or palate (NS CL/P), but it has shown inconsistent results of association with nonsyndromic CL/P across a number of studies. Thus, we have performed this case-control study to clarify the association between the TGF-α TaqI C >T polymorphism and NS CL/P risk.
 
Methods: One-hundred ten cases with NSCL/P and 110 controls were recruited to the current study. We have genotyped the TGF-α TaqI C >T polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The odds ratio (OR) and 95% confidence interval (CI) were applied for strength of association TGF-α TaqI C >T polymorphism with NSCL/P.
 
Results: The TGF-α TaqI C >T polymorphism CC, CT and TT genotypes frequencies in the NSCL/P cases were 30.9%, 57.3% and 11.8%, respectively while the corresponding frequencies in the controls were 37.3%, 52.7% and 10.0%, respectively. The frequency of C and T alleles in the case were 59.5% and 40.5%, respectively while the corresponding allelic frequencies in the controls were 63.6% and 36.4%. There was no significant difference in the genotype and allele frequency for TGF-α TaqI C >T polymorphism between cases and controls. The minor allele frequency (MAF) of TGF-α TaqI C >T polymorphism among healthy controls was 0.36.
 
Conclusion: Our study indicates that the TGF-α TaqI C>T polymorphism was not significantly associated with increased risk of NS CL/P in the Iranian population. However, our results still need to be confirmed by further large and well-designed case-control studies.

Keywords

References

1. 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.
2. Scapoli L, Palmieri A, Martinelli M, Pezzetti F, Carinci P, Tognon M, et al. Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population. Am J Hum Genet 2005; 76(1): 180-3.
3. 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.
4. 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.
5. Yuan Q, Blanton SH, Hecht JT. Genetic causes of nonsyndromic cleft lip with or without cleft palate. Adv Otorhinolaryngol 2011; 70: 107-13.
6. Weatherley-White RC, Ben S, Jin Y, Riccardi S, Arnold TD, Spritz RA. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort. Am J Med Genet A 2011; 155A(10): 2422-5.
7. Alamoudi NM, Sabbagh HJ, Innes NP, Ahmed SE, Butali A, Alnamnakani EA, et al. Interferon Regulatory Factor 6 (IRF6) and gene - environment interactions in non-syndromic orofacial cleft cases in Saudi Arabia- A case control study. J Oral Hyg Health 2018; 6(1): 233.
8. Jagomägi T, Nikopensius T, Krjutskov 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.
9. Pegelow M, Koillinen H, Magnusson M, Fransson I, Unneberg P, Kere J, et al. Association and mutation analyses of the IRF6 gene in families with nonsyndromic and syndromic cleft lip and/or cleft palate. Cleft Palate Craniofac J 2014; 51(1): 49-55.
10. Jiang C, Yin N, Zhao Z, Wu D, Wang Y, Li H, et al. Lack of association between MTHFR, MTR, MTRR, and TCN2 Genes and Nonsyndromic CL±P in a Chinese population: Case-control study and meta-analysis. Cleft Palate Craniofac J 2015; 52(5): 579-87.
11. Yan C, Deng-Qi H, Li-Ya C, Mang Y, Ke-Hu Y. Transforming growth factor alpha Taq I polymorphisms and nonsyndromic cleft lip and/or palate risk. Cleft Palate Craniofac J 2018; 55(6): 814-20.
12. Lu XC, Yu W, Tao Y, Zhao PL, Li K, Tang LJ, et al. Contribution of transforming growth factor α polymorphisms to nonsyndromic orofacial clefts: a HuGE review and meta-analysis. Am J Epidemiol 2014; 179(3): 267-81.
13. Bagheri F, Ebadifar A, Khorram Khorshid HR,
Kamali K. Association study of transforming growth factor alpha Taq I polymorphism and the risk of cleft lip and/or palate in an iranian population. Birth Defects Res 2017; 109(17): 1386-9.
14. Yuan KF, Lai QG, Zhou XH, Qin YF. [Association of transforming growth factor-alpha gene polymorphism and environment factors with nonsyndromic cleft lip with or without cleft palate in Han nationality]. Hua Xi Kou Qiang Yi Xue Za Zhi 2007; 25(3): 285-8. [In Chinese].
15. Kumari P, Ali A, Sukla KK, Singh SK, Raman R. Lower incidence of nonsyndromic cleft lip with or without cleft palate in females: Is homocysteine a factor? J Biosci 2013; 38(1): 21-6.
16. S Souza LT, Kowalski TW, Vanz AP, Giugliani R, Félix TM. TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil. Braz Oral Res 2012; 26(5): 431-5.
17. Zhu JH, Ren AG, Hao L, Pei LJ, Zhang BL, Zhou MX, et al. [Association between parental transforming growth factor alpha gene TaqI variant, paternal smoking and the cleft lip with or without cleft palate]. Zhonghua Yu Fang Yi Xue Za Zhi 2006; 40(6): 409-14. [In Chinese].
18. Zhu JH, Ren AG, Hao L, Pei LJ, Zhang BL, Zhou MX, et al. [Study on the association between transforming growth factor alpha gene TaqI variant and cleft lip with or without cleft palate]. Zhonghua Liu Xing Bing Xue Za Zhi 2006; 27(3): 245-8. [In Chinese].
World Journal of Peri and Neonatology
Volume 2, Issue 1
April 2019
Pages 9-14

Files

History

  • Receive Date: 11 July 2018
  • Revise Date: 28 September 2018
  • Accept Date: 09 November 2018

Share

How to cite

Statistics