Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families

نویسندگان

  • Nuriye Dinckan Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey Department of Diagnostic and Biomedical Sciences and Center for Craniofacial Research, University of Texas Health Science Center at Houston School of Dentistry, Houston, TX, 77054, USA
  • Zehra Oya Uyguner Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, Turkey
  • Hulya Kayserili Department of Medical Genetics, Koc University, School of Medicine (KUSOM), Istanbul, 34010, Turkey
  • Ariadne Letra Department of Diagnostic and Biomedical Sciences and Center for Craniofacial Research, University of Texas Health Science Center at Houston School of Dentistry, Houston, TX, 77054, USA Pediatric Research Center, University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, 77030, USA

DOI::

https://doi.org/10.5195/d3000.2016.57

کلمات کلیدی:

AXIN2, WNT, tooth agenesis, oligodontia, association

چکیده

Tooth agenesis is the most common developmental abnormality of the human dentition characterized by the congenital absence of one or more permanent teeth. Oligodontia is the term used to describe severe tooth agenesis, where six or more permanent teeth are missing. The WNT gene pathway regulates multiple developmental processes during craniofacial and tooth development, and variations in WNT pathway genes have been reported in individuals with tooth agenesis. In this study, we investigated the association of 37 SNPs in/nearby 12 WNT pathway genes (WNT3, WNT3A, WNT5A, WNT8A, WNT9B, WNT10A, WNT11, AXIN1, AXIN2, APC, LRP5, LRP6) with oligodontia in 22 multiplex families. Genotypes were generated using Taqman chemistry in a real-time polymerase chain reaction assay.  Family-based association tests were performed using FBAT. Pairwise-haplotype analysis was also performed. Bonferroni correction was used to adjust for multiple testing and P-values ≤ 0.001 were considered statistically significant. We found nominal association for AXIN2 rs7591, located in the 3’ UTR, with oligodontia (P=0.04). In silico analysis of SNP function predicted a binding site for miR-205 with potential impact on AXIN2 expression. Although modest, these results continue to support a role for AXIN2 in the etiology of familial tooth agenesis. 

مراجع

Genetic basis of tooth agenesis. Nieminen P. J Exp Zool B Mol Dev Evol. 2009 Jun 15;312B(4):320-42. PMID:19219933.

A meta-analysis of the prevalence of dental agenesis of permanent teeth. Polder BJ, Van't Hof MA, Van der Linden FP, Kuijpers-Jagtman AM. Community Dent Oral Epidemiol. 2004 Jun;32(3):217-26. PMID: 15151692.

Tooth agenesis: from molecular genetics to molecular dentistry. Matalova E, Fleischmannova J, Sharpe PT, Tucker AS. J Dent Res. 2008 Jul;87(7):617-23. PMID: 18573979.

Anomalies associated with hypodontia of the permanent lateral incisor and second premolar. Symons AL, Stritzel F, Stamation J. J Clin Pediatr Dent. 1993 Winter;17(2):109-11. PMID: 8466838.

Tooth morphogenesis and cell differentiation. Thesleff I, Nieminen P. Curr Opin Cell Biol. 1996 Dec;8(6):844-50. PMID: 8939666.

Two genes for missing teeth. Thesleff I. Nat Genet. 1996 Aug;13(4):379-80. PMID: 8696323.

The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. Bailleul-Forestier I, Molla M, Verloes A, Berdal A. Eur J Med Genet. 2008 Jul-Aug;51(4):273-91. PMID: 18499550.

Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N. Am J Med Genet A. 2011 Jul;155A(7):1616-22. PMID: 21626677.

Exclusion of coding region mutations in MSX1, PAX9 and AX-IN2 in eight patients with severe oligodontia phenotype. Gerits A, Nieminen P, DE Muynck S, Carels C. Orthod Craniofac Res. 2006 Aug;9(3):129-36. PMID: 16918677.

Mutational analysis of AX-IN2, MSX1, and PAX9 in two Mexi-can oligodontia families. Mu YD, Xu Z, Contreras CI, McDaniel JS, Donly KJ, Chen S. Genet Mol Res. 2013 Oct 10;12(4):4446-58. PMID: 24222224.

Expression of Wnt signaling pathway genes during tooth de-velopment. Sarkar L, Sharpe PT. Mech Dev. 1999 Jul;85(1-2):197-200. PMID: 10415363.

Expression patterns of WNT/β-CATENIN signaling mole-cules during human tooth devel-opment. Wang B, Li H, Liu Y, Lin X, Lin Y, Wang Y, Hu X, Zhang Y. J Mol Histol. 2014 Oct;45(5):487-96. PMID: 24647585.

Wnt/beta-catenin signaling directs multiple stages of tooth morphogenesis. Liu F, Chu EY, Watt B, Zhang Y, Gallant NM, Andl T, Yang SH, Lu MM, Piccolo S, Schmidt-Ullrich R, Taketo MM, Morrisey EE, Atit R, Dlugosz AA, Millar SE. Dev Biol. 2008 Jan 1;313(1):210-24. PMID: 18022614.

Wnt5a plays a crucial role in determining tooth size during murine tooth development. Cai J, Mutoh N, Shin JO, Tani-Ishii N, Ohshima H, Cho SW, Jung HS. Cell Tissue Res. 2011 Sep;345(3):367-77. PMID: 21879290.

Mutations in AXIN2 cause familial tooth agenesis and predis-pose to colorectal cancer. Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, Pirinen S, Nieminen P. Am J Hum Genet. 2004 May;74(5):1043-50. PMID: 15042511.

Mutations in WNT10A are present in more than half of iso-lated hypodontia cases. van den Boogaard MJ, Créton M, Bronk-horst Y, van der Hout A, Hennekam E, Lindhout D, Cune M, Ploos van Amstel HK. J Med Genet. 2012 May;49(5):327-31. PMID: 22581971.

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oli-godontia. Massink MP, Créton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Mau-rice MM, van den Boogaard MJ, van Haaften G. Am J Hum Genet. 2015 Oct 1;97(4):621-6. PMID: 26387593.

Mutations in WNT10B Are Identified in Individuals with Oli-godontia. Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T. Am J Hum Genet. 2016 Jul 7;99(1):195-201. PMID: 27321946.

Axis inhibition protein 2 (AXIN2) polymorphisms may be a risk factor for selective tooth agenesis. Mostowska A, Biedziak B, Jagodzinski PP. J Hum Genet. 2006;51(3):262-6. PMID: 16432638.

AXIN2 and CDH1 polymor-phisms, tooth agenesis, and oral clefts. Letra A, Menezes R, Gran-jeiro JM, Vieira AR. Birth Defects Res A Clin Mol Teratol. 2009 Feb;85(2):169-73. PMID: 18683894.

Axis inhibition protein 2 (AXIN2) polymorphisms and tooth agenesis. Callahan N, Modesto A, Meira R, Seymen F, Patir A, Vieira AR. Arch Oral Biol. 2009 Jan;54(1):45-9. PMID: 18790474.

Nucleotide variants of genes encoding components of the Wnt signaling pathway and the risk of non-syndromic tooth agen-esis. Mostowska A, Biedziak B, Za-durska M, Dunin-Wilczynska I, Li-aneri M, Jagodzinski PP. Clin Genet. 2013 Nov;84(5):429-40. PMID: 23167694.

Selecting a maximally in-formative set of single-nucleotide polymorphisms for association analyses using linkage disequilibri-um. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Am J Hum Genet. 2004 Jan;74(1):106-20. PMID: 14681826.

High-throughput genotyp-ing with single nucleotide poly-morphisms. Ranade K, Chang MS, Ting CT, Pei D, Hsiao CF, Olivier M, Pesich R, Hebert J, Chen YD, Dzau VJ, Curb D, Olshen R, Risch N, Cox DR, Botstein D. Genome Res. 2001 Jul;11(7):1262-8. PMID: 11435409.

Family-based tests of asso-ciation in the presence of linkage. Lake SL, Blacker D, Laird NM. Am J Hum Genet. 2000 Dec;67(6):1515-25. PMID: 11058432.

miRBase: the microRNA sequence database. Griffiths-Jones S. Methods Mol Biol. 2006;342:129-38. PMID: 16957372.

Genetic basis for tooth malformations: from mice to men and back again. Mitsiadis TA, Luder HU. Clin Genet. 2011 Oct;80(4):319-29. PMID: 21819395.

AXIS inhibition protein 2, orofacial clefts and a family history of cancer. Menezes R, Marazita ML, Goldstein McHenry T, Cooper ME, Bardi K, Brandon C, Letra A, Martin RA, Vieira AR. J Am Dent Assoc. 2009 Jan;140(1):80-4. PMID:19119171.

The axis inhibition protein 2 polymorphisms and non-syndromic orofacial clefts suscep-tibility in a Chinese Han popula-tion. Han Y, Zhou L, Ma L, Li D, Xu M, Yuan H, Ma J, Zhang W, Jiang H, Wu Y, Wang L, Pan Y. J Oral Pathol Med. 2014 Aug;43(7):554-60. PMID: 24484320.

MicroRNAs in Human Dis-eases: From Cancer to Cardiovas-cular Disease. Ha TY. Immune Netw. 2011 Jun;11(3):135-54. PMID: 21860607.

A program of microRNAs controls osteogenic lineage pro-gression by targeting transcription factor Runx2. Zhang Y, Xie RL, Cro-ce CM, Stein JL, Lian JB, van Wijnen AJ, Stein GS. Proc Natl Acad Sci U S A. 2011 Jun 14;108(24):9863-8. PMID: 21628588.

MicroRNA-205 suppresses the oral carcinoma oncogenic ac-tivity via down-regulation of Axin-2 in KB human oral cancer cell. Kim JS, Park SY, Lee SA, Park MG, Yu SK, Lee MH, Park MR, Kim SG, Oh JS, Lee SY, Kim CS, Kim HJ, Chun HS, Kim JS, Moon SM, Kim DK. Mol Cell Biochem. 2014 Feb;387(1-2):71-9. PMID: 24166197.

AXIN2-associated autoso-mal dominant ectodermal dyspla-sia and neoplastic syndrome. Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM. Am J Med Genet A. 2011 Apr;155A(4):898-902. PMID: 21416598.

WNT10A variants are asso-ciated with non-syndromic tooth agenesis in the general popula-tion. Song S, Zhao R, He H, Zhang J, Feng H, Lin L. Hum Genet. 2014 Jan;133(1):117-24. PMID: 24043634.

##submission.downloads##

چاپ شده

2016-10-03

شماره

دوره 4 شماره 1 (2016)

نوع مقاله

Development of Craniofacial Structures

مجوز

Authors who publish with this journal agree to the following terms:

  1. The Author retains copyright in the Work, where the term “Work” shall include all digital objects that may result in subsequent electronic publication or distribution.
  2. Upon acceptance of the Work, the author shall grant to the Publisher the right of first publication of the Work.
  3. The Author shall grant to the Publisher and its agents the nonexclusive perpetual right and license to publish, archive, and make accessible the Work in whole or in part in all forms of media now or hereafter known under a Creative Commons Attribution 4.0 International License or its equivalent, which, for the avoidance of doubt, allows others to copy, distribute, and transmit the Work under the following conditions:
    1. Attribution—other users must attribute the Work in the manner specified by the author as indicated on the journal Web site;
    with the understanding that the above condition can be waived with permission from the Author and that where the Work or any of its elements is in the public domain under applicable law, that status is in no way affected by the license.
  4. The Author is able to enter into separate, additional contractual arrangements for the nonexclusive distribution of the journal's published version of the Work (e.g., post it to an institutional repository or publish it in a book), as long as there is provided in the document an acknowledgement of its initial publication in this journal.
  5. Authors are permitted and encouraged to post online a prepublication manuscript (but not the Publisher’s final formatted PDF version of the Work) in institutional repositories or on their Websites prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work. Any such posting made before acceptance and publication of the Work shall be updated upon publication to include a reference to the Publisher-assigned DOI (Digital Object Identifier) and a link to the online abstract for the final published Work in the Journal.
  6. Upon Publisher’s request, the Author agrees to furnish promptly to Publisher, at the Author’s own expense, written evidence of the permissions, licenses, and consents for use of third-party material included within the Work, except as determined by Publisher to be covered by the principles of Fair Use.
  7. The Author represents and warrants that:
    1. the Work is the Author’s original work;
    2. the Author has not transferred, and will not transfer, exclusive rights in the Work to any third party;
    3. the Work is not pending review or under consideration by another publisher;
    4. the Work has not previously been published;
    5. the Work contains no misrepresentation or infringement of the Work or property of other authors or third parties; and
    6. the Work contains no libel, invasion of privacy, or other unlawful matter.
  8. The Author agrees to indemnify and hold Publisher harmless from Author’s breach of the representations and warranties contained in Paragraph 6 above, as well as any claim or proceeding relating to Publisher’s use and publication of any content contained in the Work, including third-party content.

Revised 7/16/2018. Revision Description: Removed outdated link.