Derleme
BibTex RIS Kaynak Göster

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

Yıl 2015, Supplement 10, 177 - 189, 21.05.2015

Gayem Eroğlu Bayrak Elçin Esenlik

https://doi.org/10.17567/dfd.18699
Cited By: 1

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

Anahtar Kelimeler

Cleft lip and palate etiology genes

Kaynakça

  • Bayındır F, Ulu H. Ön bölge diş eksikliği ve yer darlığı olan dudak damak yarıklı bir olguda estetik yaklaşımlar. Atatürk Üniv Diş Hek Fak Derg 2013;23:247-51.
  • 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.
  • Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nature Reviews Genetics 2001;2:458-68.
  • Murray JC. Gene/environment causes of cleft lip and/ or palate. Clin Genet 2002;61:248-56.
  • Stainer P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet 2004;1:13.
  • Öner C. Genetik Kavramlar. 6. Baskı. Ankara; Palme Yayıncılık: 2003. p.5-9.
  • Collins F, Galas D. A new five-year plan for the Genome U.S. 1993;262:43-6. Project. Science
  • Tuğ A, Hancı H, Balseven A. İnsan genom projesi: Umut mu, Kabus mu? Sted 2002;11:56-7.
  • Lüleci G, Sakızlı M, Alper Ö. Renkli Genetik Atlası. İstanbul; Nobel Tıp Kitabevi: 2000. p. 46,126,156.
  • Baydar H. Genetik. Isparta; SDÜ Basımevi: 2002. p. 29,148.
  • Lidral AC, Moreno LM, Bullard SA. Genetic factors and orofacial clefting. Semin Orthod 2008;14:103- 14.
  • Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: synthesizing genetic and environmental influences. Nat Rev Genet
  • Jamilian A, Nayeri F, Babayan A. Incidence of cleft lip and palate in Tehran. J Indian Soc Pedod Prevent Dent 2007;174-6.
  • Leite ICG, Koifman S. Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil. Braz Oral Res 2009;23: 31-7.
  • Aquino NS, Paranaiba LMR, Martelli DNB, Swerts MSO, Barros LM. Study of patients with cleft lip and palate with consanguineous parents. Braz J Otorhinolaryngol 2011;77:19-23.
  • Uskun E. Akraba Evlilikleri. Sted 2001;10.
  • Gonzales BS, Lopez ML, Rico MA, Garduno F. Oral clefts: a retrospective study of prevalence and predisposal factors in the State of Mexico. Journal of Oral Science 2008;50:123-9.
  • Paranaiba LMB, Miranda RT, Martelli DRB, Bonan PRF, Almeida H. Cleft lip and palate: series of unusual clinical cases. Braz J Otorhinolaryngol 2010;76:649-53.
  • Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod 2004;26: 7-16.
  • Lidral AC, Moreno LM. Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr 2005;17:731-9.
  • Marazita ML, Field LL, Tunçbilek G, Cooper ME, Goldstein T, Gürsu KG. Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey. Am J Med Genet Am 2004;126:111-22.
  • Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Gene 2002;32:285-9.
  • Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Eng J Med 2004;351:769-80.
  • Houdayer C, Bonaiti-Pellie C, Erguy C, Soupre V, Dondon MG. Possible relationship between the van der Woude syndrome (VWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Am J Med Genet 2001;104:86-92.
  • Srichomthong C, Siriwan P, Shotelersuk V. Significant association between IRF6 820GRA and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 2005;42:e46.
  • Lu Y, Liu Q, Xu W, Li Z, Jiang M. TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China. PLoS One 2013; Aug 6;8:e70754.
  • Blanton SH, Burt A, Stal S, Mulliken JB, Garcia E. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 2010;88:256-9.
  • Paranaiba LM, Bufalino A, Martelli-Jşnior H, de Barros LM, Graner E. Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and nonsyndromic cleft lip and/or palate in a Brazilian population. Oral Dis 2010;16:193-7.
  • Pegelow M, Killinen H, Magnusson M, Fransson I, Unneberg P, Kere J. 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;51:49-55
  • Hayes C, Werler MM, Willett WC, Mitchell AA. Case-control study of periconceptional folic acid supplementation and oral clefts. Am J Epidemiol 1996;143:1229–34.
  • Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR. P63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 1999;398:708- 13.
  • Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE. Molecular refinement of the 1p36 deletion syndrome preponderance of maternally derived deletions. Hum Molec Genet 1999;8:313–21. and a
  • Prescott NJ, Malcolm S. Folate and face: evaluating the evidence for the influence of folate genes on craniofacial development. Cleft Palate Craniofac J 2002;39:327-31.
  • Aşlar D, Özdiler E, Altuğ AT, Taştan H. Determination Reductase (MTHFR) gene polymorphism in Turkish patients with nonsyndromic cleft lip and palate. Int J Pediatr Otorhinolaryngol 2013;Jul 77:1143-6.
  • Shaw GM, Wasserman CR, Murray JC, Lammer EJ. Infant TGF-Alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use. Cleft Palate Craniofac J 1998;35:366-70.
  • Gaspar D A, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case- control study in Brazil. Am J Med Genet 1999;87:197-9.
  • Feng H, Sassani R, Bartlett SP, Lee A, Hecht JT. Evidence, from family studies, for linkage disequilibrium between TGFA and gene for non- syndromic cleft lip with or without cleft palate. Am J Hum Genet 1994;55:932-6.
  • Mitchell LE. Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. Genet Epidemiol 1997;14:231-40.
  • Miettinen PJ, Chin JR, Shum L. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat Genet 1999;22:69-73.
  • Luetteke NC, Qiu TH, Peiffer RL, Oliver P, Smithies O. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 1993;73:263-78.
  • Mann GB, Fowler KJ, Gabriel A, Nice EC, Williams RL. Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflamation. Cell 1993;73:249-61.
  • Hecht JT, Wang YP, Blanton SH, Michels V, Daiger SP. Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet 1991;49:682-6.
  • Vintiner GM, Holder SE, Winter RM, Holder SE, Malcolm S. No evidence of linkage between the transforming growth factor alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. J Med Genet 1992;29:393-7.
  • Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 1994;6:348-56.
  • Zhao Y, Guo YJ, Tomac AC, Taylor NR, Grinberg A. Isolated cleft palate in mice with a targeted mutation of the LIM homeobox gene Lhx8. Proc Natl Acad Sci USA 1999;96:15002–6.
  • Marazita ML, Mooney MP. Current concepts in the embryology and genetics of cleft lip and cleft palate. Clin Plast Surg 2004;31:125-40.
  • Suazo J, Santos JL, Carreno H, Jara L, Blanco R. Linkage Disequilibrium between MSX1 and non- syndromic cleft lip/palate in the Chilean population. J Dent Res 2004;83:782-5.
  • Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 2003;40:399-407.
  • Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M. In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med 2004;6:117-25.
  • Kim NY, Kim YH, Park JW, Baek SH. Association between MSX1 SNPs and nonsyndromic cleft lip with or without cleft palate in the Korean population. J Korean Med Sci 2013;Apr;28:522-6.
  • Mitchell LE, Murray JC, O’Brien S, Christensen K. Evaluation of two putative susceptibility loci for oral clefts in the Danish population. Am J Epidemiol 2001;153:1007-15.
  • Koillinen H, Ollikainen V, Rautio J, Hukki J, Kere J. Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci. J Med Genet 2003;40:464-8.
  • Hecht JT, Wang Y, Connor B, Blanton SH, Daiger SP. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A. Am J Hum Genet 1993;52:1230-3.
  • Maestri NE, Beaty TH, Hetmanski J, Smith EA, Application Mcintosh disequilibrium tests to non-syndromic oral clefts: including candidate genes and environmental exposures in the models. Am J Med Genet 1997;73:337-44. of transmission
  • Wong FK, Hagg U. An update on the etiology of orofacial clefts. Hong Kong Med J 2004;10:331-6.
  • Kaartinen V, Cui X-M, Heisterkamp N, Groffen J, Shuler CF. Transforming growth factor B3 regulates transdifferentiation of medial edge epithelium during palatal fusion and associated degradation of the basement membrane. Dev Dyn 1997;209:255-60.
  • Fitzpatrick DR, Denhez F, Kondaiah P, Akhurst RJ. Differential expression of TGF beta isoforms in murine palatogenesis. Development 1990;109:585- 95.
  • Liu W, Sun X, Braut A, Mishina Y, Behringer RR. Distinct functions for Bmp signaling in lip and palate 2005;132:1453-61. mice. Development
  • Shaikh S, Ravenndranath R, Moniac B, Joseph A, Jahgirdar P. Evidence For Transforming Growth Factor-Beta 3 Gene Polymorphism In Non- Syndromic Cleft Lip And Palate Patients From Indian Sub-Continent. Med Oral Patol Oral Cir Bucal 2012;17: e197-200.
  • Tang M, Wang Y, Han S, Guo S, Wang D. Transforming polymorphisms and nonsyndromic cleft lip and palate risk: a meta analysis. Genet Test Mol Biomarkers 2013;Dec 17:881-9. gene
  • Antunes S, Küchler EC, Tannure PN, Costa MC, Gouvêa CVD, Olej B. BMP4 Polymorphism is Associated With Nonsyndromic Oral Cleft in a Brazilian Population. Cleft Palate-Craniofac J 2013;50:633-8.
  • Damm K, Heyman RA, Umesono K, Evans RM. Functional inhibition of retinoic acid response by dominant negative retinoic acid receptor mutants. Proc Natl Acad Sci USA 1993;90:2989-93.
  • Lohnes D, Mark M, Mendelsohn C, Dolle P, Dierich A. Function of the retinoic acid receptors (RARs) during development: (I) Craniofacial and skeletal abnormalities RAR Development 1994;120:2723-48. double mutants.
  • Mani P, Jarrell A, Myers J, Atit R. Visualizing canonical Wnt signaling during mouse craniofacial development. Dev Dyn 2009;239:354-63.
  • Lan Y, Ryan RC, Zhang Z, Bullard SA, Bush JO. Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice. Dev Dyn 2006;235:1448–54.
  • Chiquet BT, Blanton SH, Burt A, Ma D, Stal S. Variation in WNT genes is associated with non- syndromic cleft lip with or without cleft palate. Hum Mol Genet 2008;17:2212-8.
  • Menezes R, Letra A, Kim AH, Kuchler EC, Day A. Studies with WNT Genes and Nonsyndromic Cleft Lip and Palate. Birth Defects Res A Clin Mol Teratol 2010;88:995-1000.
  • Fujita H, Nagata M, Ono K, Okubo H, Takagi R. Linkage analysis between BCL3 and nearby genes on 19q13.2 and non- syndromic cleft lip with or without cleft palate in multi generational Japanese families. Oral Dis 2004;10:353-9.
  • Amos C, Gasser D, Hecht JT. Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. Am J Hum Genet 1996;59:743-4.
  • Wyszynski DF, Duffy DL, Beaty TH. Maternal cigarette smoking and oral clefts: a meta-analysis. Cleft Palate Craniofac J 1997;34:206-10.
  • Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P. Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation. Genomics 1998;51:177-81.
  • Sözen MA, Tolarova M, Spritz RA. BCL3 geni ve non-sendromik yarık dudak /damak hastalığı: Bir ilişkilendirme çalışması. Tıp Araştırmaları Dergisi 2007;5:9-12.
  • Sözen MA, Tolarova MM, Spritz RA. Bir CLPTM1 geni polimorfizmi ile Guatemala’daki non- sendromik yarık dudak ve/veya damak arasında ilişkilendirme çalışması. Tıp Araştırmaları Dergisi 2009;7:7-11.
  • 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.
  • Young JS, Guttman JA, Vaid KS, Vogl AW. complexes Tubulobulbar podosome-like structures that internalize intact intercellular junctions during epithelial remodeling events in rat testes. Biol Reprod 2009;80:162-74.
  • 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.
  • Lammer EJ, Shaw GM, Iovannisci DM, Finnell RH. Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial clefts. Epidemiology 2005;16:698-701.
  • Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ. Retinoic acid embryopathy. N Engl J Med
  • Romitti PA, Lidral AC, Munger R, Daack-Hirsch S, Burns T. Candidate genes for non-syndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype- environmental interactions from a population- based case-control study of oro-facial clefts. Teratology 1999;59:39-50.
  • Hassoun EA, Stohs SJ. Comparative teratological studies on TCDD, Endrin and Lindane in C57BL/6J and DBA/2J mice. Comp Biochem Physiol 1996;113C:393-8.
  • Garcia AM, Fletcher T, Benavides FG, Orts E. Parental agricultural work and selected congenital malformations. Am J Epidemiol 1999;149:64-74.
  • Munger R, Sauberlich H, Murray J, Layda E, Villaneuva E. Abnormal folate and vitamin E levels in Filipino mothers of children with orofacial clefts. Am J Epidemiol 1996;143: S2.
  • Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD. Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without 2010;128:401-10. palate. Hum Genet
  • 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.
  • Lidral AC, Murray JC. Genetic approaches to identify disease genes for birth defects with cleft lip/ palate as a model. Birth Defects Res A Clin Mol Teratol 2004;70:893-901.
  • Abbott BD. Developmental toxicity of dioxin: searching for the cellular and molecular basis of morphological responses. In: Kavlock RJ, Daston GP. Drug toxicity in embryonic development: advances in understanding mechanisms of birth defects. New York; Springer: 1997.
  • Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory 2006;38:1335-40. (Irf6). Nat Genet
  • 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.

DUDAK DAMAK YARIĞI ETYOLOJİSİNDE GENLERİN VE GEN-ÇEVRE ETKİLEŞİMİNİN ROLÜ

Yıl 2015, Supplement 10, 177 - 189, 21.05.2015

Gayem Eroğlu Bayrak Elçin Esenlik

https://doi.org/10.17567/dfd.18699
Cited By: 1

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.


Anahtar Kelimeler

Dudak damak yarığı etiyoloji genler

Kaynakça

  • Bayındır F, Ulu H. Ön bölge diş eksikliği ve yer darlığı olan dudak damak yarıklı bir olguda estetik yaklaşımlar. Atatürk Üniv Diş Hek Fak Derg 2013;23:247-51.
  • 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.
  • Wilkie AO, Morriss-Kay GM. Genetics of craniofacial development and malformation. Nature Reviews Genetics 2001;2:458-68.
  • Murray JC. Gene/environment causes of cleft lip and/ or palate. Clin Genet 2002;61:248-56.
  • Stainer P, Moore GE. Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts. Hum Mol Genet 2004;1:13.
  • Öner C. Genetik Kavramlar. 6. Baskı. Ankara; Palme Yayıncılık: 2003. p.5-9.
  • Collins F, Galas D. A new five-year plan for the Genome U.S. 1993;262:43-6. Project. Science
  • Tuğ A, Hancı H, Balseven A. İnsan genom projesi: Umut mu, Kabus mu? Sted 2002;11:56-7.
  • Lüleci G, Sakızlı M, Alper Ö. Renkli Genetik Atlası. İstanbul; Nobel Tıp Kitabevi: 2000. p. 46,126,156.
  • Baydar H. Genetik. Isparta; SDÜ Basımevi: 2002. p. 29,148.
  • Lidral AC, Moreno LM, Bullard SA. Genetic factors and orofacial clefting. Semin Orthod 2008;14:103- 14.
  • Dixon MJ, Marazita ML, Beaty TH, Murray JC. Cleft lip and palate: synthesizing genetic and environmental influences. Nat Rev Genet
  • Jamilian A, Nayeri F, Babayan A. Incidence of cleft lip and palate in Tehran. J Indian Soc Pedod Prevent Dent 2007;174-6.
  • Leite ICG, Koifman S. Oral clefts, consanguinity, parental tobacco and alcohol use: a case-control study in Rio de Janeiro, Brazil. Braz Oral Res 2009;23: 31-7.
  • Aquino NS, Paranaiba LMR, Martelli DNB, Swerts MSO, Barros LM. Study of patients with cleft lip and palate with consanguineous parents. Braz J Otorhinolaryngol 2011;77:19-23.
  • Uskun E. Akraba Evlilikleri. Sted 2001;10.
  • Gonzales BS, Lopez ML, Rico MA, Garduno F. Oral clefts: a retrospective study of prevalence and predisposal factors in the State of Mexico. Journal of Oral Science 2008;50:123-9.
  • Paranaiba LMB, Miranda RT, Martelli DRB, Bonan PRF, Almeida H. Cleft lip and palate: series of unusual clinical cases. Braz J Otorhinolaryngol 2010;76:649-53.
  • Cobourne MT. The complex genetics of cleft lip and palate. Eur J Orthod 2004;26: 7-16.
  • Lidral AC, Moreno LM. Progress toward discerning the genetics of cleft lip. Curr Opin Pediatr 2005;17:731-9.
  • Marazita ML, Field LL, Tunçbilek G, Cooper ME, Goldstein T, Gürsu KG. Genome-scan for loci involved in cleft lip with or without cleft palate in consanguineous families from Turkey. Am J Med Genet Am 2004;126:111-22.
  • Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Gene 2002;32:285-9.
  • Zucchero TM, Cooper ME, Maher BS, Daack-Hirsch S, Nepomuceno B. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. N Eng J Med 2004;351:769-80.
  • Houdayer C, Bonaiti-Pellie C, Erguy C, Soupre V, Dondon MG. Possible relationship between the van der Woude syndrome (VWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). Am J Med Genet 2001;104:86-92.
  • Srichomthong C, Siriwan P, Shotelersuk V. Significant association between IRF6 820GRA and non-syndromic cleft lip with or without cleft palate in the Thai population. J Med Genet 2005;42:e46.
  • Lu Y, Liu Q, Xu W, Li Z, Jiang M. TGFA and IRF6 contribute to the risk of nonsyndromic cleft lip with or without cleft palate in northeast China. PLoS One 2013; Aug 6;8:e70754.
  • Blanton SH, Burt A, Stal S, Mulliken JB, Garcia E. Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate. Birth Defects Res A Clin Mol Teratol 2010;88:256-9.
  • Paranaiba LM, Bufalino A, Martelli-Jşnior H, de Barros LM, Graner E. Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and nonsyndromic cleft lip and/or palate in a Brazilian population. Oral Dis 2010;16:193-7.
  • Pegelow M, Killinen H, Magnusson M, Fransson I, Unneberg P, Kere J. 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;51:49-55
  • Hayes C, Werler MM, Willett WC, Mitchell AA. Case-control study of periconceptional folic acid supplementation and oral clefts. Am J Epidemiol 1996;143:1229–34.
  • Mills AA, Zheng B, Wang XJ, Vogel H, Roop DR. P63 is a p53 homologue required for limb and epidermal morphogenesis. Nature 1999;398:708- 13.
  • Wu YQ, Heilstedt HA, Bedell JA, May KM, Starkey DE. Molecular refinement of the 1p36 deletion syndrome preponderance of maternally derived deletions. Hum Molec Genet 1999;8:313–21. and a
  • Prescott NJ, Malcolm S. Folate and face: evaluating the evidence for the influence of folate genes on craniofacial development. Cleft Palate Craniofac J 2002;39:327-31.
  • Aşlar D, Özdiler E, Altuğ AT, Taştan H. Determination Reductase (MTHFR) gene polymorphism in Turkish patients with nonsyndromic cleft lip and palate. Int J Pediatr Otorhinolaryngol 2013;Jul 77:1143-6.
  • Shaw GM, Wasserman CR, Murray JC, Lammer EJ. Infant TGF-Alpha genotype, orofacial clefts, and maternal periconceptional multivitamin use. Cleft Palate Craniofac J 1998;35:366-70.
  • Gaspar D A, Pavanello RC, Zatz M, Passos-Bueno MR, Andre M. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: results from a case- control study in Brazil. Am J Med Genet 1999;87:197-9.
  • Feng H, Sassani R, Bartlett SP, Lee A, Hecht JT. Evidence, from family studies, for linkage disequilibrium between TGFA and gene for non- syndromic cleft lip with or without cleft palate. Am J Hum Genet 1994;55:932-6.
  • Mitchell LE. Transforming growth factor alpha locus and nonsyndromic cleft lip with or without cleft palate: a reappraisal. Genet Epidemiol 1997;14:231-40.
  • Miettinen PJ, Chin JR, Shum L. Epidermal growth factor receptor function is necessary for normal craniofacial development and palate closure. Nat Genet 1999;22:69-73.
  • Luetteke NC, Qiu TH, Peiffer RL, Oliver P, Smithies O. TGF alpha deficiency results in hair follicle and eye abnormalities in targeted and waved-1 mice. Cell 1993;73:263-78.
  • Mann GB, Fowler KJ, Gabriel A, Nice EC, Williams RL. Mice with a null mutation of the TGF alpha gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflamation. Cell 1993;73:249-61.
  • Hecht JT, Wang YP, Blanton SH, Michels V, Daiger SP. Cleft lip and palate: no evidence of linkage to transforming growth factor alpha. Am J Hum Genet 1991;49:682-6.
  • Vintiner GM, Holder SE, Winter RM, Holder SE, Malcolm S. No evidence of linkage between the transforming growth factor alpha gene in families with apparently autosomal dominant inheritance of cleft lip and palate. J Med Genet 1992;29:393-7.
  • Satokata I, Maas R. Msx1 deficient mice exhibit cleft palate and abnormalities of craniofacial and tooth development. Nat Genet 1994;6:348-56.
  • Zhao Y, Guo YJ, Tomac AC, Taylor NR, Grinberg A. Isolated cleft palate in mice with a targeted mutation of the LIM homeobox gene Lhx8. Proc Natl Acad Sci USA 1999;96:15002–6.
  • Marazita ML, Mooney MP. Current concepts in the embryology and genetics of cleft lip and cleft palate. Clin Plast Surg 2004;31:125-40.
  • Suazo J, Santos JL, Carreno H, Jara L, Blanco R. Linkage Disequilibrium between MSX1 and non- syndromic cleft lip/palate in the Chilean population. J Dent Res 2004;83:782-5.
  • Jezewski PA, Vieira AR, Nishimura C, Ludwig B, Johnson M. Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate. J Med Genet 2003;40:399-407.
  • Suzuki Y, Jezewski PA, Machida J, Watanabe Y, Shi M. In a Vietnamese population, MSX1 variants contribute to cleft lip and palate. Genet Med 2004;6:117-25.
  • Kim NY, Kim YH, Park JW, Baek SH. Association between MSX1 SNPs and nonsyndromic cleft lip with or without cleft palate in the Korean population. J Korean Med Sci 2013;Apr;28:522-6.
  • Mitchell LE, Murray JC, O’Brien S, Christensen K. Evaluation of two putative susceptibility loci for oral clefts in the Danish population. Am J Epidemiol 2001;153:1007-15.
  • Koillinen H, Ollikainen V, Rautio J, Hukki J, Kere J. Linkage and linkage disequilibrium searched for between non-syndromic cleft palate and four candidate loci. J Med Genet 2003;40:464-8.
  • Hecht JT, Wang Y, Connor B, Blanton SH, Daiger SP. Nonsyndromic cleft lip and palate: No evidence of linkage to HLA or factor 13A. Am J Hum Genet 1993;52:1230-3.
  • Maestri NE, Beaty TH, Hetmanski J, Smith EA, Application Mcintosh disequilibrium tests to non-syndromic oral clefts: including candidate genes and environmental exposures in the models. Am J Med Genet 1997;73:337-44. of transmission
  • Wong FK, Hagg U. An update on the etiology of orofacial clefts. Hong Kong Med J 2004;10:331-6.
  • Kaartinen V, Cui X-M, Heisterkamp N, Groffen J, Shuler CF. Transforming growth factor B3 regulates transdifferentiation of medial edge epithelium during palatal fusion and associated degradation of the basement membrane. Dev Dyn 1997;209:255-60.
  • Fitzpatrick DR, Denhez F, Kondaiah P, Akhurst RJ. Differential expression of TGF beta isoforms in murine palatogenesis. Development 1990;109:585- 95.
  • Liu W, Sun X, Braut A, Mishina Y, Behringer RR. Distinct functions for Bmp signaling in lip and palate 2005;132:1453-61. mice. Development
  • Shaikh S, Ravenndranath R, Moniac B, Joseph A, Jahgirdar P. Evidence For Transforming Growth Factor-Beta 3 Gene Polymorphism In Non- Syndromic Cleft Lip And Palate Patients From Indian Sub-Continent. Med Oral Patol Oral Cir Bucal 2012;17: e197-200.
  • Tang M, Wang Y, Han S, Guo S, Wang D. Transforming polymorphisms and nonsyndromic cleft lip and palate risk: a meta analysis. Genet Test Mol Biomarkers 2013;Dec 17:881-9. gene
  • Antunes S, Küchler EC, Tannure PN, Costa MC, Gouvêa CVD, Olej B. BMP4 Polymorphism is Associated With Nonsyndromic Oral Cleft in a Brazilian Population. Cleft Palate-Craniofac J 2013;50:633-8.
  • Damm K, Heyman RA, Umesono K, Evans RM. Functional inhibition of retinoic acid response by dominant negative retinoic acid receptor mutants. Proc Natl Acad Sci USA 1993;90:2989-93.
  • Lohnes D, Mark M, Mendelsohn C, Dolle P, Dierich A. Function of the retinoic acid receptors (RARs) during development: (I) Craniofacial and skeletal abnormalities RAR Development 1994;120:2723-48. double mutants.
  • Mani P, Jarrell A, Myers J, Atit R. Visualizing canonical Wnt signaling during mouse craniofacial development. Dev Dyn 2009;239:354-63.
  • Lan Y, Ryan RC, Zhang Z, Bullard SA, Bush JO. Expression of Wnt9b and activation of canonical Wnt signaling during midfacial morphogenesis in mice. Dev Dyn 2006;235:1448–54.
  • Chiquet BT, Blanton SH, Burt A, Ma D, Stal S. Variation in WNT genes is associated with non- syndromic cleft lip with or without cleft palate. Hum Mol Genet 2008;17:2212-8.
  • Menezes R, Letra A, Kim AH, Kuchler EC, Day A. Studies with WNT Genes and Nonsyndromic Cleft Lip and Palate. Birth Defects Res A Clin Mol Teratol 2010;88:995-1000.
  • Fujita H, Nagata M, Ono K, Okubo H, Takagi R. Linkage analysis between BCL3 and nearby genes on 19q13.2 and non- syndromic cleft lip with or without cleft palate in multi generational Japanese families. Oral Dis 2004;10:353-9.
  • Amos C, Gasser D, Hecht JT. Nonsyndromic cleft lip with or without cleft palate: new BCL3 information. Am J Hum Genet 1996;59:743-4.
  • Wyszynski DF, Duffy DL, Beaty TH. Maternal cigarette smoking and oral clefts: a meta-analysis. Cleft Palate Craniofac J 1997;34:206-10.
  • Martinelli M, Scapoli L, Pezzetti F, Carinci F, Carinci P. Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation. Genomics 1998;51:177-81.
  • Sözen MA, Tolarova M, Spritz RA. BCL3 geni ve non-sendromik yarık dudak /damak hastalığı: Bir ilişkilendirme çalışması. Tıp Araştırmaları Dergisi 2007;5:9-12.
  • Sözen MA, Tolarova MM, Spritz RA. Bir CLPTM1 geni polimorfizmi ile Guatemala’daki non- sendromik yarık dudak ve/veya damak arasında ilişkilendirme çalışması. Tıp Araştırmaları Dergisi 2009;7:7-11.
  • 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.
  • Young JS, Guttman JA, Vaid KS, Vogl AW. complexes Tubulobulbar podosome-like structures that internalize intact intercellular junctions during epithelial remodeling events in rat testes. Biol Reprod 2009;80:162-74.
  • 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.
  • Lammer EJ, Shaw GM, Iovannisci DM, Finnell RH. Maternal smoking, genetic variation of glutathione s-transferases, and risk for orofacial clefts. Epidemiology 2005;16:698-701.
  • Lammer EJ, Chen DT, Hoar RM, Agnish ND, Benke PJ. Retinoic acid embryopathy. N Engl J Med
  • Romitti PA, Lidral AC, Munger R, Daack-Hirsch S, Burns T. Candidate genes for non-syndromic cleft lip and palate and maternal cigarette smoking and alcohol consumption: evaluation of genotype- environmental interactions from a population- based case-control study of oro-facial clefts. Teratology 1999;59:39-50.
  • Hassoun EA, Stohs SJ. Comparative teratological studies on TCDD, Endrin and Lindane in C57BL/6J and DBA/2J mice. Comp Biochem Physiol 1996;113C:393-8.
  • Garcia AM, Fletcher T, Benavides FG, Orts E. Parental agricultural work and selected congenital malformations. Am J Epidemiol 1999;149:64-74.
  • Munger R, Sauberlich H, Murray J, Layda E, Villaneuva E. Abnormal folate and vitamin E levels in Filipino mothers of children with orofacial clefts. Am J Epidemiol 1996;143: S2.
  • Wu T, Liang KY, Hetmanski JB, Ruczinski I, Fallin MD. Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without 2010;128:401-10. palate. Hum Genet
  • 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.
  • Lidral AC, Murray JC. Genetic approaches to identify disease genes for birth defects with cleft lip/ palate as a model. Birth Defects Res A Clin Mol Teratol 2004;70:893-901.
  • Abbott BD. Developmental toxicity of dioxin: searching for the cellular and molecular basis of morphological responses. In: Kavlock RJ, Daston GP. Drug toxicity in embryonic development: advances in understanding mechanisms of birth defects. New York; Springer: 1997.
  • Ingraham CR, Kinoshita A, Kondo S, Yang B, Sajan S. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory 2006;38:1335-40. (Irf6). Nat Genet
  • 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

Bu eser Creative Commons Alıntı-GayriTicari-Türetilemez 4.0 Uluslararası Lisansı ile lisanslanmıştır. Tıklayınız.