EXPRESSION OF TRANSFORMING GROWTH FACTOR ALPHA BAMHI AND RSAI GENE VARIANTS ASSOCIATED WITH NON-SYNDROMIC CLEFT PALATE OF INDONESIAN SUBJECTS USING POLYMERASE CHAIN REACTION METHOD
Â Objective: This study aimed to detect and analyze transforming growth factor alpha (TGFA) BamHI and RsaI gene variants which associated with the risk factor of non-syndromic cleft palate only (NS CPO) of Indonesian subject.
Methods: This was case-control study using samples from 32 NS CPO subjects and 28 control subjects. DNA was extracted from venous blood, and the TGFA gene was amplified using polymerase chain reaction technique, then digestion product from TaqI and RsaI restriction enzyme was evaluated. Statistical analysis to determine significant differences of gene variant frequency among NS CPO subject and control was Ï‡2. The odds ratio (OR) was used to determine a risk factor of NS CPO.
Results: The study results showed that the TGFA BamHI gene variant was not identified in NS CPO among Indonesian but TGFA RsaI gene variant was identified. The frequency of TT/B1B1 homozygous mutant genotype was 80.0% in NS CPO subjects and 20.0% in control subjects (OR=3.857; 95% confidence interval=0.405â€“36.749).
Conclusion: TGFA RsaI gene can be considered a risk factor of NS CPO compared TGFA BamH1 gene of Indonesian subjects.
2. Kim J, Langlois PH, Herdt-Losavio ML, Agopian AJ. A case-control study of maternal occupation and the risk of orofacial clefts. J Occup Environ Med 2016;58:833-9.
3. Nasroen SL, Tajrin A, Fauziah PN, Maskoen AM, Soemantri ES, Soedjana H, et al. TGFÃŸ3/sfaN1 gene variant and the risk factor of nonsyndromic cleft palate only among Indonesian patients. Cell Mol Biol (Noisy-le-grand) 2017;63:88-91.
4. Iwata J, Parada C, Chai Y. The mechanism of TGF-Î² signaling during palate development. Oral Dis 2011;17:733-44.
5. SetÃ³-Salvia N, Stanier P. Genetics of cleft lip and/or cleft palate: Association with other common anomalies. Eur J Med Genet 2014;57:381-93.
6. El-Din EY, Omar AR. Effect of prenatal administration of therapeutic dose of topiramate on placentae albino ratsâ€™ fetuses. Int J Pharm Pharm Sci 2017;9:54-9.
7. Kho JV, Chu SS, Dalluma RM, Omar SZ. Medications used by pregnant women: Any safety concerns? Int J Pharm Pharm Sci 2017;9:100-6.
8. Cox TC. Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology. Clin Genet 2004;65:163-76.
9. Jugessur A, Murray JC. Orofacial clefting: Recent insights into a complex trait. Curr Opin Genet Dev 2005;15:270-8.
10. Ebadifar A, Hamedi R, Khorram Khorshid HR, Saliminejad K, Kamali K, Aghakhani Moghadam F, et al. Association of transforming growth factor alpha polymorphisms with nonsyndromic cleft lip and palate in Iranian population. Avicenna J Med Biotechnol 2015;7:168-72.
11. Machida J, Yoshiura K, Funkhauser CD, Natsume N, Kawai T, Murray JC. Transforming Growth Factor- (TGFA): Genomic structure, boundary sequences, and mutations analysis in nonsyndromic cleft lip/palate and cleft palate only. Genomics 1999;61:237-42.
12. Bagheri F, Ebadifar A, Khorram Khorshid HR, Kamali K. Association study of transforming growth factor alpha TaqI polymorphism and the risk of cleft lip and/or palate in an Iranian population. Birth Defects Res 2017;109:1386-9.
13. Vemuri PK, Sagi H, Dasari S, Prabhala MS, Vbs HM, Anumala LA. Comparative study on various methods for recovery of deoxyribonucleic acid from agarose gels to explore molecular diversity. Asian J Pharm Clin Res 2016;9:422-4.
14. Bachtiar BM, Bachtiar EW. Proinflammatory MG-63 cells response infection with Enterococcus faecalis cps2 evaluated by the expression of TLR-2, IL-1Î², and iNOS mRNA. BMC Res Notes 2017;10:401.
15. Omran R, Al-Naji AH, Al-Sherify A. Investigation of Helicobacter pylori virulence genotype in gastric biopsies by polymerase chain reaction. Asian J Pharm Clin Res 2016;9:106-14.
16. Stuppia L, Capogreco M, Marzo G, La Rovere D, Antonucci I, Gatta V, et al. Genetics of syndromic and nonsyndromic cleft lip and palate. J Craniofac Surg 2011;22:1722-6.
17. Gritli-Linde A. Molecular control of secondary palate development. Dev Biol 2007;301:309-26.
18. Qian JF, Feingold J, Stoll C, May E. Transforming growth factor-alpha: Characterization of the bamHI, rsaI, and taqI polymorphic regions. Am J Hum Genet 1993;53:168-75.
19. Meng T, Shi JY, Wu M, Wang Y, Li L, Liu Y, et al. Overexpression of mouse TTF-2 gene causes cleft palate. J Cell Mol Med 2012;16:2362-8.
20. He F, Xiong W, Wang Y, Li L, Liu C, Yamagami T, et al. Epithelial Wnt/Î²-catenin signaling regulates palatal shelf fusion through regulation of TgfÎ²3 expression. Dev Biol 2011;350:511-9.
21. Zhang X, Siclari VA, Lan S, Zhu J, Koyama E, Dupuis HL. The critical role of the epidermal growth factor receptor in endochondral ossification. J Bone Miner Res 2011;26:2622-33.
22. Feng C, Zhang E, Duan W, Xu Z, Zhang Y, Lu L, et al. Association between polymorphism of TGFA Taq I and cleft lip and/or palate: A meta-analysis. BMC Oral Health 2014;14:88.
23. Jugessur A, Lie RT, Wilcox AJ, Murray JC, Taylor JA, Saugstad OD, et al. Variants of developmental genes (TGFA, TGFB3, and MSX1) and their associations with orofacial clefts: A case-parent triad analysis. Genet Epidemiol 2003;24:230-9.
24. Lu XC, Yu W, Tao Y, Zhao PL, Li K, Tang LJ, et al. Contribution of transforming growth factor Î± polymorphisms to nonsyndromic orofacial clefts: A HuGE review and meta-analysis. Am J Epidemiol 2014;179:267-81.
25. Stoll C, Qian JF, Feingold J, Sauvage P, May E. Genetic variation in transforming growth factor alpha: Possible association of bamHI polymorphism with bilateral sporadic cleft lip and palate. Hum Genet 1993;92:81-2.
26. Chenevix-Trench G, Jones K, Green A, Martin N. Further evidence for an association between genetic variation in transforming growth factor alpha and cleft lip and palate. Am J Hum Genet 1991;48:1012-3.
27. Shiang R, Lidral AC, Ardinger HH, Buetow KH, Romitti PA, Munger RG, et al. Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO). Am J Hum Genet 1993;53:836-43.
28. Field LL, Ray AK, Marazita ML. Transforming growth factor alpha: A modifying locus for nonsyndromic cleft lip with or without cleft palate? Eur J Hum Genet 1994;2:159-65.
The publication is licensed under CC By and is open access. Copyright is with author and allowed to retain publishing rights without restrictions.