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Association of AXIN2 with non-syndromic oral clefts in multiple populations

Letra, A and Bjork, B and Cooper, ME and Szabo-Rogers, H and Deleyiannis, FWB and Field, LL and Czeizel, AE and Ma, L and Garlet, GP and Poletta, FA and Mereb, JC and Lopez-Camelo, JS and Castilla, EE and Orioli, IM and Wendell, S and Blanton, SH and Liu, K and Hecht, JT and Marazita, ML and Vieira, AR and Silva, RM (2012) Association of AXIN2 with non-syndromic oral clefts in multiple populations. Journal of Dental Research, 91 (5). 473 - 478. ISSN 0022-0345

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Abstract

We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts. © 2012 International & American Associations for Dental Research.

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Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Letra, A
Bjork, B
Cooper, ME
Szabo-Rogers, H
Deleyiannis, FWB
Field, LL
Czeizel, AE
Ma, L
Garlet, GP
Poletta, FA
Mereb, JC
Lopez-Camelo, JS
Castilla, EE
Orioli, IM
Wendell, Swend0017@pitt.eduWEND0017
Blanton, SH
Liu, K
Hecht, JT
Marazita, MLmarazita@pitt.eduMARAZITA
Vieira, ARarv11@pitt.eduARV11
Silva, RM
Date: 1 May 2012
Date Type: Publication
Journal or Publication Title: Journal of Dental Research
Volume: 91
Number: 5
Page Range: 473 - 478
DOI or Unique Handle: 10.1177/0022034512440578
Refereed: Yes
ISSN: 0022-0345
MeSH Headings: Animals; Asian Continental Ancestry Group--genetics; Axin Protein--biosynthesis; Axin Protein--genetics; China; Cleft Lip--genetics; Cleft Palate--genetics; Epistasis, Genetic; Europe; European Continental Ancestry Group--genetics; Gene Frequency; Genome-Wide Association Study; Humans; India; Interferon Regulatory Factors--biosynthesis; Interferon Regulatory Factors--genetics; Latin America; Linkage Disequilibrium; Mice; Palate, Hard--embryology; Polymorphism, Single Nucleotide; Saliva--chemistry; Turkey; United States
Other ID: NLM PMC3327729 [Available on 05/01/13]
PubMed Central ID: PMC3327729
PubMed ID: 22370446
Date Deposited: 24 Sep 2012 19:17
Last Modified: 20 Feb 2020 13:55
URI: http://d-scholarship.pitt.edu/id/eprint/14358

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