Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families
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 mul...
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| Format: | Article |
| Language: | English |
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University Library System, University of Pittsburgh
2016-10-01
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| Series: | Dentistry 3000 |
| Subjects: | |
| Online Access: | http://dentistry3000.pitt.edu/ojs/index.php/dentistry3000/article/view/57 |
| _version_ | 1818007256786010112 |
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| author | Nuriye Dinckan Zehra Oya Uyguner Hulya Kayserili Ariadne Letra |
| author_facet | Nuriye Dinckan Zehra Oya Uyguner Hulya Kayserili Ariadne Letra |
| author_sort | Nuriye Dinckan |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-14T05:13:32Z |
| format | Article |
| id | doaj.art-564d980008124505af029197f01a9566 |
| institution | Directory Open Access Journal |
| issn | 2167-8677 |
| language | English |
| last_indexed | 2024-04-14T05:13:32Z |
| publishDate | 2016-10-01 |
| publisher | University Library System, University of Pittsburgh |
| record_format | Article |
| series | Dentistry 3000 |
| spelling | doaj.art-564d980008124505af029197f01a95662022-12-22T02:10:28ZengUniversity Library System, University of PittsburghDentistry 30002167-86772016-10-0141344210.5195/d3000.2016.5734Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish familiesNuriye Dinckan0Zehra Oya Uyguner1Hulya Kayserili2Ariadne Letra3Department 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, USADepartment of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, 34093, TurkeyDepartment of Medical Genetics, Koc University, School of Medicine (KUSOM), Istanbul, 34010, TurkeyDepartment 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, USATooth 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.http://dentistry3000.pitt.edu/ojs/index.php/dentistry3000/article/view/57AXIN2, WNT, tooth agenesis, oligodontia, association |
| spellingShingle | Nuriye Dinckan Zehra Oya Uyguner Hulya Kayserili Ariadne Letra Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families Dentistry 3000 AXIN2, WNT, tooth agenesis, oligodontia, association |
| title | Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families |
| title_full | Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families |
| title_fullStr | Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families |
| title_full_unstemmed | Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families |
| title_short | Association of AXIN2 gene polymorphisms with nonsyndromic oligodontia in Turkish families |
| title_sort | association of axin2 gene polymorphisms with nonsyndromic oligodontia in turkish families |
| topic | AXIN2, WNT, tooth agenesis, oligodontia, association |
| url | http://dentistry3000.pitt.edu/ojs/index.php/dentistry3000/article/view/57 |
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