{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T04:18:02Z","timestamp":1781669882655,"version":"3.54.5"},"reference-count":48,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,12,7]],"date-time":"2012-12-07T00:00:00Z","timestamp":1354838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,11]]},"abstract":"<jats:p>Tooth agenesis is one of the most common dental anomalies, with a complex and not yet fully elucidated aetiology. Given the crucial role of the Wnt signalling pathway during tooth development, the purpose of this study was to determine whether nucleotide variants of genes encoding components of this signalling pathway might be associated with hypodontia and oligodontia in the Polish population. A set of 34 single nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNPs<\/jats:styled-content>) in 13 WNT and WNT\u2010related genes were analyzed in a group of 157 patients with tooth agenesis and a properly matched control group (<jats:italic>n<\/jats:italic>\u2009=\u2009430). In addition, direct sequencing was performed to detect mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">MSX1<\/jats:styled-content>,<\/jats:italic> <jats:italic><jats:styled-content style=\"fixed-case\">PAX9<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">WNT10A<\/jats:styled-content><\/jats:italic> genes. Both single\u2010marker and haplotype analyses showed highly significant association between <jats:styled-content style=\"fixed-case\">SNPs<\/jats:styled-content> in the <jats:italic><jats:styled-content style=\"fixed-case\">WNT10A<\/jats:styled-content><\/jats:italic> gene and the risk for tooth agenesis. Moreover, nine pathogenic mutations within the coding region of the <jats:italic><jats:styled-content style=\"fixed-case\">WNT10A<\/jats:styled-content><\/jats:italic> gene were identified in 26 out of 42 (62%) tested patients. One novel heterozygous mutation was identified in the <jats:italic><jats:styled-content style=\"fixed-case\">PAX9<\/jats:styled-content><\/jats:italic> gene. Borderline association with the risk of non\u2010syndromic tooth agenesis was also observed for the <jats:italic><jats:styled-content style=\"fixed-case\">APC,<\/jats:styled-content><\/jats:italic> <jats:italic><jats:styled-content style=\"fixed-case\">CTNNB1<\/jats:styled-content>,<\/jats:italic> <jats:italic><jats:styled-content style=\"fixed-case\">DVL2<\/jats:styled-content><\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">WNT11<\/jats:styled-content><\/jats:italic> polymorphisms. In conclusion, nucleotide variants of genes encoding important components of the Wnt signalling pathway might influence the risk of tooth agenesis.<\/jats:p>","DOI":"10.1111\/cge.12061","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T13:46:33Z","timestamp":1353419193000},"page":"429-440","source":"Crossref","is-referenced-by-count":63,"title":["Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non\u2010syndromic tooth agenesis"],"prefix":"10.1111","volume":"84","author":[{"given":"A","family":"Mostowska","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Biedziak","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences  Poznan Poland"},{"name":"Private 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