{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T21:01:04Z","timestamp":1790974864612,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T00:00:00Z","timestamp":1344211200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2012,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>BACKGROUND: Nonsyndromic cleft lip with or without cleft palate (NSCL\/P) is one of the most common congenital anomalies, with a complex and still not fully understood etiology. Given the important role of the Wnt\/\u03b2\u2010catenin pathway during craniofacial development, we decided to test the hypothesis that common polymorphic variants of the genes encoding crucial components of this signaling pathway might contribute to the risk of NSCL\/P in the Polish population. METHODS: A set of 19 single nucleotide polymorphisms (SNPs) in the <jats:italic>APC<\/jats:italic>, <jats:italic>AXIN1<\/jats:italic>, <jats:italic>AXIN2<\/jats:italic>, <jats:italic>CTNNB1<\/jats:italic>, <jats:italic>DVL2<\/jats:italic>, and <jats:italic>GSK<\/jats:italic>\u2010<jats:italic>3<\/jats:italic>\u03b2 genes were analyzed using restriction fragment length polymorphism and high\u2010resolution melting curve methods in a group of 280 patients with NSCL\/P and a properly matched control group (n = 330). RESULTS: Both single\u2010marker and haplotype analyses showed an association between SNPs in the <jats:italic>DVL2<\/jats:italic> gene and the risk for NSCL\/P. The strongest association was found under an overdominant model for the rs35594616 variant located in the exonic sequence of <jats:italic>DVL2<\/jats:italic> (odds ratio [OR], 1.90; 95% confidence interval [CI], 1.37\u20132.62; <jats:italic>p<\/jats:italic> &lt; 0.0001). Moreover, the gene\u2010gene interaction analysis revealed a significant epistatic interaction between <jats:italic>DVL2<\/jats:italic> gene SNPs in the susceptibility to orofacial clefts. Borderline association with a decreased risk of NSCL\/P was also observed for the <jats:italic>AXIN2<\/jats:italic> rs3923087 variant (dominant model OR, 0.69; 95% CI, 0.50\u20130.95; <jats:italic>p<\/jats:italic> = 0.03). CONCLUSION: This study suggests that polymorphic variants of the Wnt\/\u03b2\u2010catenin pathway genes have a role in the susceptibility to orofacial clefts. The <jats:italic>DVL2<\/jats:italic> and <jats:italic>AXIN2<\/jats:italic> genes might be candidate genes for this craniofacial anomaly in the Polish population. Birth Defects Research (Part A), 2012. \u00a9 2012 Wiley Periodicals, Inc. <\/jats:p>","DOI":"10.1002\/bdra.23056","type":"journal-article","created":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T10:05:07Z","timestamp":1344247507000},"page":"943-950","source":"Crossref","is-referenced-by-count":25,"title":["Association of <i>DVL2<\/i> and <i>AXIN2<\/i> gene polymorphisms with cleft lip with or without cleft palate in a polish population"],"prefix":"10.1002","volume":"94","author":[{"given":"Adrianna","family":"Mostowska","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamil 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