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Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population

Vieira, AR and Seymen, F and Patir, A and Menezes, R (2008) Evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and isolate tooth agenesis, in a Turkish population. Archives of Oral Biology, 53 (8). 780 - 784. ISSN 0003-9969

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Recently, the IRF6 contribution that was reported for Van der Woude syndrome and non-syndromic oral clefts was extended to isolated tooth agenesis. Here we report the first study that tries to replicate this finding and we provide further evidence that IRF6 contributes to isolated tooth agenesis. Fifty-two sporadic tooth agenesis cases and their parents were studied. DNA samples were obtained from whole blood or saliva samples. Genotyping was performed by TaqMan assays. Linkage disequilibrium analysis and transmission distortion of the marker alleles were performed. A haplotype involving the most 5′ IRF6 markers was associated with sporadic tooth agenesis (p = 0.006). An association could still be seen when only cases with at least one missing incisor (p = 0.01) and cases with at least one missing premolar (p = 0.004) were included in the analysis. © 2008 Elsevier Ltd. All rights reserved.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Vieira, ARarv11@pitt.eduARV11
Seymen, F
Patir, A
Menezes, R
Date: 1 August 2008
Date Type: Publication
Journal or Publication Title: Archives of Oral Biology
Volume: 53
Number: 8
Page Range: 780 - 784
DOI or Unique Handle: 10.1016/j.archoralbio.2008.03.006
Schools and Programs: School of Dental Medicine > Dental Science
Refereed: Yes
ISSN: 0003-9969
MeSH Headings: Anodontia--genetics; Female; Genetic Predisposition to Disease; Humans; Interferon Regulatory Factors--genetics; Linkage Disequilibrium--genetics; Male; Polymorphism, Genetic; Tooth; Turkey
PubMed ID: 18452891
Date Deposited: 20 Sep 2012 21:17
Last Modified: 20 Feb 2020 13:55


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