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ROLE OF GENES AND INTERACTION BETWEEN GENES AND ENVIROMENT ON CLEFT LIP AND PALATE ETIOLOGY

Yıl 2015, Supplement 10, 177 - 189, 21.05.2015
https://doi.org/10.17567/dfd.18699

Öz

Cleft lip and/or cleft palate are one of the most common birth defects. These anomalies are caused by genetic, environmental factors and combination of these factors. With recent advances in modern molecular biology and methods which are used for the analysis of population genetics, important progress has been made in identifying some of genes associated with cleft lip and palate. Recently multiple genes have been implicated in the etiology of clefting. Additional disturbances in growth factors or their receptors that may be involved in the failure of fusion include fibroblast growth factor, transforming growth factor-p, platelet-derived growth factor, and epidermal growth factor. In last ten years, especially interactions between some genes and enviromental factors were pointed out in cleft lip and palate etiology. For the improvement of the prevention strategies and treatment methods of cleft lip and palate, thorough investigation of the fetal and maternal genoms and taking precautions with the planned pregnancy about the possible risks are of great importance

Kaynakça

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DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ

Yıl 2015, Supplement 10, 177 - 189, 21.05.2015
https://doi.org/10.17567/dfd.18699

Öz


Dudak ve /veya damak yarıkları sıklıkla görülen doğumsal anomalilerdendir. Bu anomaliler genetik, çevresel faktörler ve bu faktörlerin kombinasyonu sonucu meydana gelmektedir. Popülasyon genetiğinin analizinde kullanılan modern moleküler biyoloji ve metodlardaki son gelişmelerle birlikte dudak damak yarığı ile ilişkili bazı genlerin aydınlatılmasında ilerleme kaydedilmiştir. Son zamanlarda dudak damak yarığı etiyolojisinde çoklu genler sorumlu tutulmaktadır. İlaveten fibroblast büyüme faktörü, transforming bü- yüme faktörü, platelet kökenli büyüme faktörü ve epidermal büyüme faktörü gibi büyüme faktörleri veya reseptörlerindeki bozukluklar da füzyonda başarısızlığa sebep olan faktörlere dahil edilmiştir. Son on yılda özellikle genler ve çevresel faktörler arasındaki etkile- şimler dudak damak yarığı etiyolojisinde vurgulan- maktadır. Dudak damak yarığı için alınacak önlemlerin ve tedavi metodlarının geliştirilmesi için fetal ve maternal genomların çok iyi araştırılması, planlı hamilelikle beraber olası riskler konusunda önlemlerin alınması büyük önem taşımaktadır.


Kaynakça

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  • Özdemir H, Aladağ Lİ. Konjenital dudak damak yarıklı bir hastanın sabit ve hassas tutuculu protezlerle rehabilitasyonu. Atatürk Üniv Diş Hek Fak Derg 2013;7:38-43.
  • 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.
  • Murray JC. Face facts: genes, environment, and clefts. Am J Hum Genet 1995;57:227-32.
  • Schutte BC, Murray JC. The many faces and factors of orofacial clefts. Hum Mol Genet 1999;8:1853-9.
  • Prescott NJ, Lees MM, Winter RM. Identification of susceptibility loci for nonsyndromic cleft lip with or without cleft palate in a two stage genome scan of affected sib-pairs. Hum Genet 2000;106:345-50.
  • Van den Boogaard MJH, Dorland M, Beerner FA. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nat Genet 2000;24:342-3.
  • Wyszynski DF, Beaty TH. Review of the role of potential teratogens in te origin of human non- syndromic oral clefts. Teratology 1996;53:309-17.
  • Prescott NJ, Winter RM, Malcolm S. Non-syndromic cleft lip and palate: complex genetics and environmental 2001;65:505-15. Ann Hum Genet
  • Spritz RA. The genetics and epigenethics of orofacial clefts. Curr Opin Pediatr 2001;13:556-60.
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  • Suzuki K, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate ectodermal dysplasia. Nat Genet 2000;25:427-30.
  • Eberle F, Dubreuil P, Mattei MG, Devilard E, Lopez M. The human PRR2 gene, related to the human poliovirus receptor gene (PVR), is the true homolog of the murine MPH gene. Gene 1995;159:267-72.
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  • Warrington A, Vieira AR, Christensen K, Orioli IM, Castilla EE. Genetic evidence for the role of loci at 19q13 in cleft lip and palate. J Med Genet 2006; 43:e26.
  • Sözen MA, Hecht JT, Spritz RA. Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate. Genet Biol 2009;32:466-9.
  • Stoll S, Mengsteab S, Stoll D, Riediger D, Gressner AM. Analysis of polymorphic TGFB1 codons 10, 25, and 263 in a German patient group with non- syndromic cleft lip, alveolus, and palate compared with healthy adults. BMC Medical Genetics 2004;5:15.
  • Wang H, Zhang T, Wu T, Hetmanski JB, Ruczinski I. The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate. Cleft Palate Craniofac J 2013; 50:96-103.
  • Wang C, Chang JY, Yang C, Huang Y, Liu J. Type 1 fibroblast growth factor receptor in cranial neural crest cell-derived mesenchyme is required for palatogenesis. J Biol Chem 2013; 288: 22174-83.
  • Miettinen PJ, Chin JR, Shum L, Slavkin HC, Shuler CF. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat Genet 1999; 22:69-73.
  • Reigstad LJ, Varhaug JE, Lillehaug JR. Structural and functional specificities of PDGF-C and PDGF-D, the novel members of the platelet-derived growth factors family. FEBS J 2005;272:5723-41
  • Calcia A, Gai G, Di Gregorio E, Talarico F, Naretto VG. Bilaterally cleft lip and bilateral thumb polydactyly with triphalangeal component in a patient with two de novo deletions of HSA 4q32 and 4q34 involving PDGFC, GRIA2, and FBXO8 genes. Am J Med Genet A 2013;Oct 16:2656-62.
  • Alkuraya FS, Saadi I, Lund JJ, Turbe-Doan A, Morton CC, Maas RL. SUMO1 haploinsufficiency leads to cleft lip and palate. Science 2006;313:1751.
  • Pauws E, Stanier P. FGF signaling and SUMO modification: new players in the aetiology of cleft lip and/or palate. Trends Genet 2007;23:631-40.
  • Rahimov F, Jugessur A, Murray JC. Genetics of Nonsyndromic Orofacial Clefts. Cleft Palate- Craniofac J 2012;49 73-91.
  • Kimberly DL, Tan F, Brown P. Maternal factors and disparities associated with oral clefts. Ethn Dis 2010;20:146-9.
  • Hwang SJ, Beaty TH, Panny SR, Street NA, Joseph JM. Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects. Am J Epidemiol 1995;141:629- 36.
  • Shaw GM, Wasserman CR, Lammer EJ, O’Malley CD, Murray JC. Orofacial clefts, parental cigarette smoking, and transforming growth factor-alpha gene variants. Am J Hum Genet 1996;58:551-61.
  • Van Rooij IALM, Vermeij-Keers C, Kluijtmans LAJ, Ocke MC, Zielhuis GA. Does the interaction between maternal folate intake and the methylenetetrahydrofolate reductase polymorp- hisms affect the risk of cleft lip with or without cleft palate? Am J Epidemiol 2003;157:583-91.
  • Jugessur A, Wilcox AJ, Lie RT, Murray JC, Taylor JA. Exploring the effects of methylenetet rahydrofolate reductase gene variants C677T and A1298C on the risk of orofacial clefts in 261 Norwegian case-parent triads. Am J Epidemiol 2003;157:1083-91.
  • Christensen K, Olsen J, Norgaard-Pedersen B, Basso O, Stovring H. Oral clefts, transforming growth factor alpha gene variants and maternal smoking: a population based case control study in Denmark 1991-1994. Am J Epidemiol 1999; 149: 248-55.
  • 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 Sep-Oct;26:431-5.
  • Van Rooij IALM, Ocke MC, Straatman H, Zielhuis GA, Merkus HM. Periconceptional folate intake by supplement and food reduces the risk of nonsyndromic cleft lip with or without cleft palate. Prev Med 2004;39:689-94.
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  • Ibarra-Lopez JJ, Duarte P, Antonio-Vejar V, Calderon-Aranda ES, Huerta-Beristain G. Maternal C677T MTHFR polymorphism and environmental factors are associated with cleft lip and palate in a Mexican population. J Investig Med 2013; 61:1030-5.
  • Juriloff DM, Harris MJ. Mouse genetic models of cleft lip with or without cleft palate. Birth Defects Res A Clin Mol Terathol 2008;82:63-77.
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  • Letra A, Fakhouri W, Fonseca RF, Menezes R, Kempa I. Interaction between IRF6 and TGFA genes contribute to the risk of nonsyndromic cleft lip/palate. PLoS One 2012;7:e45441.
  • 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 nonsyndromic cleft lip with or without palate. Mol Med Rep 2013;Oct 8:1228- 34.
  • Rafighdoost H, Hashemi M, Narouei A, Eskanadri- Nasab E, Dashti-Khadivaki G, Taheri M. Association Between CDH1 and MSX1 Gene Polymorphisms and the Risk of Nonsyndromic Cleft Lip and/or Cleft Palate in a Southeast Iranian Population. Cleft Palate Craniofac J 2013;50:e98-e104.
Toplam 118 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Diş Hekimliği
Bölüm Makaleler
Yazarlar

Gayem Eroğlu Bayrak Bu kişi benim

Elçin Esenlik

Yayımlanma Tarihi 21 Mayıs 2015
Yayımlandığı Sayı Yıl 2015 Supplement 10

Kaynak Göster

APA Eroğlu Bayrak, G., & Esenlik, E. (2015). DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ. Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi, 25, 177-189. https://doi.org/10.17567/dfd.18699
AMA Eroğlu Bayrak G, Esenlik E. DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ. Ata Diş Hek Fak Derg. Mayıs 2015;25:177-189. doi:10.17567/dfd.18699
Chicago Eroğlu Bayrak, Gayem, ve Elçin Esenlik. “DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ”. Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi 25, Mayıs (Mayıs 2015): 177-89. https://doi.org/10.17567/dfd.18699.
EndNote Eroğlu Bayrak G, Esenlik E (01 Mayıs 2015) DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ. Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi 25 177–189.
IEEE G. Eroğlu Bayrak ve E. Esenlik, “DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ”, Ata Diş Hek Fak Derg, c. 25, ss. 177–189, 2015, doi: 10.17567/dfd.18699.
ISNAD Eroğlu Bayrak, Gayem - Esenlik, Elçin. “DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ”. Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi 25 (Mayıs 2015), 177-189. https://doi.org/10.17567/dfd.18699.
JAMA Eroğlu Bayrak G, Esenlik E. DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ. Ata Diş Hek Fak Derg. 2015;25:177–189.
MLA Eroğlu Bayrak, Gayem ve Elçin Esenlik. “DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ”. Atatürk Üniversitesi Diş Hekimliği Fakültesi Dergisi, c. 25, 2015, ss. 177-89, doi:10.17567/dfd.18699.
Vancouver Eroğlu Bayrak G, Esenlik E. DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ. Ata Diş Hek Fak Derg. 2015;25:177-89.

Cited By

Primary Care Approaches in Lip Palate Clefts and Prevention
Turkish Journal of Family Medicine and Primary Care
Aslıhan Öztürk
https://doi.org/10.21763/tjfmpc.336160

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