Yıl: 2017 Cilt: 7 Sayı: 2 Sayfa Aralığı: 62 - 67 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022

Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?

Öz:
Sitokin gen varyantları/ekspresyonları ve non-sendromik mikrotia - Bir ilişki var mıdır?Amaç: Mikrotianın etyopatogenezinde birçok genetik ve çevreselfaktörler araştırılmasına rağmen hala belirsizlik vardır. Bu çalışmadabir Türk kohortunda pro- ve anti-enflamatuar sitokinlerin [interlökin(IL) 6, IL-10, tümör nekroz faktör alfa (TNF-?), transforme edici büyüme faktörü beta (TGF-?1), İnterferon gama (IFN-?)] varyant/ekspresyonu ve sendromik-olmayan mikrotiaya yatkınlık arasındaki ilişkiyi araştırdık.Yöntem:Çalışmaya akraba olmayan 19 mikrotiyalı olgu ve 40 sağlıklı gönüllü kontrol dahil edildi. Sitokin varyantları dizi spesifik primerpolimeraz zincir reaksiyonu (PCR-SSP) metodu kullanılarak analizedildi. Bulgular:IL-6 (-174) GC genotipi (yüksek ekspresyon) mikrotia vakalarında daha düşükken (p=0.003), IL-6 (-174) GG genotipi (yüksekekspresyon) mikrotia vakalarında kontrolden daha yüksek olarak bulundu (p=0.010). IL-6 (-174) için, GG genotipi taşıyan hastalar mikrotia için 5895 kat yüksek riske sahipti. IFN-? (+874) varyant AA genotip (düşük ekspresyon) mikrotia vakalarında düşüktü (p=0.009). IL6 (-174) C alleli hastalarda kontrollere göre düşükken, G alleli hastagrubunda kontrole göre daha yaygındı (p=0.003). IFN-? (+874) varyant A alleli hastalarda düşükken, T alleli hastalarda daha yaygındı(p=0.017). Sonuç:Burada mikrotia gelişimi için sitokin varyantlarının risk faktörü teşkil edeceğini ilk defa gösterdik. Sonuçlarımız IFN-? (+874) veIL-6 (-174) varyantlarının Türk toplumunda mikrotia gelişimi ile ilişkili olabileceğini öne sürmektedir.
Anahtar Kelime:

Konular: Hematoloji Hücre Biyolojisi

Cytokine gene variants/expressions and non-syndromic microtia - is there a link?

Öz:
Objective:Although many genetic and environmental factors areinvestigated the etiopathogenesis of microtia, it still remains unclear.We investigated the relationship between the variants/expression ofpro- and anti-inflammatory cytokines [interleukin (IL) 6, IL-10,tumor necrosis factor-alpha (TNF-?), transforming growth factorbeta (TGF-?1), interferon gamma (IFN-?)] and susceptibility nonsyndromic microtia in a Turkish cohort. Methods:Nineteen unrelated cases with microtia and 40 healthycontrols were included in the present study. Cytokine variants weretested by polymerase chain reaction with sequence-specific primers(PCR-SSP) method. Results: It was found that IL-6 (-174) GG genotype (high expression) was higher in microtia cases than the controls (p=0.010) whileIL-6 (-174) GC (high expression) genotype was lower in patients(p=0.003). For IL-6 (-174), patients with GG genotype had a 5895fold increased risk for microtia. IFN-? (+874) variant AA genotype(low expression) was lower in microtia cases (p=0.009). IL-6 (-174) Gallele was more prevalent in patient group compared to controls whileC allele was lower in patients than controls (p=0.003). IFN-? (+874)variant T allele was more prevalent in cases while A allele was lowerin cases (p=0.017). Conclusion:We have demonstrated for the first time that thecytokine variants constitute risk factors for developing microtia. Ourstudy suggests that the IFN-? (+874) and IL-6 (-174) variants may beconsidered as a risk factor for microtia in a Turkish cohorts.
Anahtar Kelime:

Konular: Hematoloji Hücre Biyolojisi
Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık
  • 1. Alasti F, Van Camp G. Genetics of microtia and associated syndromes. J Med Genet 2009;46:361-9.
  • 2. Calzolari F, Garani G, Sensi A, Martini A. Clinical and radiological evaluation in children with microtia. Br J Audiol 1999;33:303-12.
  • 3. Yamauchi M, Yotsuyanagi T, Ikeda K, et al. Clinical and genetic analysis of microtia in Japan. J Plast Surg Hand Surg 2012;46: 330-4.
  • 4. Robertson SA, Skinner RJ, Care AS. Essential role for IL-10 in resistance to lipopolysaccharide-induced preterm labor in mice. J Immunol 2006;177:4888-96.
  • 5. Wu MY, Hill CS. TGF-beta superfamily signaling in embryonic development and homeostasis. Dev Cell 2009;16:329-43.
  • 6. Ashkar AA, Di Santo JP, Croy BA. Interferon gamma contributes to initiation of uterine vascular modification, decidual integrity, and uterine natural killer cell maturation during normal murine pregnancy. J Exp Med 2000;192:259-70.
  • 7. Toder V, Fein A, Carp H, Torchinsky A. TNF-alpha in pregnancy loss and embryo maldevelopment: a mediator of detrimental stimuli or a protector of the fetoplacental unit? J Assist Reprod Genet 2003;20:73-81.
  • 8. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
  • 9. Karaoglan I, Pehlivan S, Namiduru M, et al. TNF-alpha, TGFbeta, IL-10, IL-6 and IFN-gamma gene polymorphisms as risk factors for brucellosis. New Microbiol 2009; 32:173-8.
  • 10. Schaid DJ, Batzler AJ, Jenkins GD, Hildebrandt MA. Exact tests of Hardy-Weinberg equilibrium and homogeneity of disequilibrium across strata. Am J Hum Genet 2006;79:1071-80.
  • 11. Luquetti DV, Heike CL, Hing AV, Cunningham ML, Cox TC. Microtia: epidemiology and genetics. Am J Med Genet A 2012; 158A:124-39.
  • 12. Ishimoto S, Ito K, Karino S, Takegoshi H, Kaga K, Yamasoba T. Hearing levels in patients with microtia: correlation with temporal bone malformation. Laryngoscope 2007;117:461-5.
  • 13. Artunduaga MA, Quintanilla-Dieck Mide L, Greenway S, et al. A classic twin study of external ear malformations, including microtia. N Engl J Med 2009;361:1216-8.
  • 14. Schmid M, Schroder M, Langenbeck U. Familial microtia, meatal atresia, and conductive deafness in three siblings. Am J Med Genet 1985;22:327-32.
  • 15. Okajima H, Takeichi Y, Umeda K, Baba S. Clinical analysis of 592 patients with microtia. Acta Otolaryngol Suppl 1996;525:18-24.
  • 16. Dominguez F, Gadea B, Mercader A, Esteban FJ, Pellicer A, Simón C. Embryologic outcome and secretome profile of implanted blastocysts obtained after coculture in human endometrial epithelial cells versus the sequential system. Fertil Steril 2010;93: 774-82.e1.
  • 17. Shen XH, Han YJ, Zhang DX, Cui XS, Kim NH. A link between the interleukin-6/Stat3 anti-apoptotic pathway and microRNA- 21 in preimplantation mouse embryos. Mol Reprod Dev 2009;76:854-62.
  • 18. Miranda-Vilela AL, Ribeiro IF, Grisolia CK. Association between interleukin 6 -174 G/C promoter gene polymorphism and runners' responses to the dietary ingestion of antioxidant supplementation based on pequi (Caryocar brasiliense Camb.) oil: a before-after study. Genet Mol Biol 2016;39:554-66.
  • 19. Boehm U, Klamp T, Groot M, Howard JC. Cellular responses to interferon-gamma. Annu Rev Immunol 1997;15:749-95.
  • 20. Al-Kholy W, Elsaid A, Sleem A, Fathy H, Elshazli R, Settin A. TNF-? - 308 G > A and IFN-? + 874 A > T gene polymorphisms in Egyptian patients with lupus erythematosus. Meta Gene 2016;9:137-41.
  • 21. Zollner U, Bischofs S, Lalic I, Zollner KP. LIF and TNF alpha concentrations in embryo culture media are predictive for embryo implantation in IVF. Asian Pacific Journal of Reproduction 2014; 1:277-82.
  • 22. Chaouat G, Ledée-Bataille N, Dubanchet S, Zourbas S, Sandra O, Martal J. TH1/TH2 paradigm in pregnancy: paradigm lost? Cytokines in pregnancy/early abortion: reexamining the TH1/TH2 paradigm. Int Arch Allergy Immunol 2004;134:93- 119.
  • 23. Mosmann TR, Coffman RL. Heterogeneity of cytokine secretion patterns and functions of helper T cells. Adv Immunol 1989;46:111-47.
  • 24. Moudi B, Heidari Z, Mahmoudzadeh-Sagheb H, et al. Association between IL-10 gene promoter polymorphisms (-592 A/C, -819 T/C, -1082 A/G) and susceptibility to HBV infection in an Iranian population. Hepat Mon 2016;16:e32427.
  • 25. Wu M, Chen G, Li YP. TGF-beta and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease. Bone Res 2016;4:16009.
  • 26. Jones RL, Stoikos C, Findlay JK, Salamonsen LA. TGF-beta superfamily expression and actions in the endometrium and placenta. Reproduction 2006;132:217-32.
APA Nursal A, BEKERECİOĞLU M, pehlivan s, SEVER T, BÜYÜKGÜRAL B (2017). Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. , 62 - 67.
Chicago Nursal Ayse Feyda,BEKERECİOĞLU MEHMET,pehlivan sacide,SEVER Tuğçe,BÜYÜKGÜRAL Berker Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. (2017): 62 - 67.
MLA Nursal Ayse Feyda,BEKERECİOĞLU MEHMET,pehlivan sacide,SEVER Tuğçe,BÜYÜKGÜRAL Berker Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. , 2017, ss.62 - 67.
AMA Nursal A,BEKERECİOĞLU M,pehlivan s,SEVER T,BÜYÜKGÜRAL B Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. . 2017; 62 - 67.
Vancouver Nursal A,BEKERECİOĞLU M,pehlivan s,SEVER T,BÜYÜKGÜRAL B Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. . 2017; 62 - 67.
IEEE Nursal A,BEKERECİOĞLU M,pehlivan s,SEVER T,BÜYÜKGÜRAL B "Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?." , ss.62 - 67, 2017.
ISNAD Nursal, Ayse Feyda vd. "Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?". (2017), 62-67.
APA Nursal A, BEKERECİOĞLU M, pehlivan s, SEVER T, BÜYÜKGÜRAL B (2017). Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. ENT Updates, 7(2), 62 - 67.
Chicago Nursal Ayse Feyda,BEKERECİOĞLU MEHMET,pehlivan sacide,SEVER Tuğçe,BÜYÜKGÜRAL Berker Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. ENT Updates 7, no.2 (2017): 62 - 67.
MLA Nursal Ayse Feyda,BEKERECİOĞLU MEHMET,pehlivan sacide,SEVER Tuğçe,BÜYÜKGÜRAL Berker Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. ENT Updates, vol.7, no.2, 2017, ss.62 - 67.
AMA Nursal A,BEKERECİOĞLU M,pehlivan s,SEVER T,BÜYÜKGÜRAL B Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. ENT Updates. 2017; 7(2): 62 - 67.
Vancouver Nursal A,BEKERECİOĞLU M,pehlivan s,SEVER T,BÜYÜKGÜRAL B Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?. ENT Updates. 2017; 7(2): 62 - 67.
IEEE Nursal A,BEKERECİOĞLU M,pehlivan s,SEVER T,BÜYÜKGÜRAL B "Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?." ENT Updates, 7, ss.62 - 67, 2017.
ISNAD Nursal, Ayse Feyda vd. "Sitokin gen varyantlar>/ekspresyonlar> ve non-sendromik mikrotia - Bir iliflki var mIdIr?". ENT Updates 7/2 (2017), 62-67.