{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T01:59:24Z","timestamp":1768442364590,"version":"3.49.0"},"reference-count":31,"publisher":"Wiley","issue":"9","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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nonsyndromic cleft lip with or without cleft palate (NSCL\/P) is a complex disorder with a worldwide incidence estimated at 1:700. Among the putative susceptibility loci, the<jats:italic>IRF6<\/jats:italic>gene and a region at 8q24.21 have been corroborated in different populations. To test the role of<jats:italic>IRF6<\/jats:italic>in NSCL\/P predisposition in the Brazilian population, we conducted a structured association study with the SNPs rs642961 and rs590223, respectively, located at 5\u2032 and 3\u2032 of the<jats:italic>IRF6<\/jats:italic>gene and not in strong linkage disequilibrium (LD), in patients from five different Brazilian locations. We also evaluated the effect of these SNPs in<jats:italic>IRF6<\/jats:italic>expression in mesenchymal stem cells (MSC). We observed association between rs642961 and cleft lip only (CLO) (<jats:italic>P<\/jats:italic>\u2009=\u20090.009; odds ratio (OR) for AA genotype\u2009=\u20091.83 [95% Confidence interval (CI), 0.64\u20135.31]; OR for AG genotype\u2009=\u20091.72 [95% CI, 1.03\u20132.84]). This association seems to be driven by the affected patients from Barbalha, a location which presents the highest heritability estimate (H<jats:sup>2<\/jats:sup>\u2009=\u20090.85), and the A allele at rs642961 is acting through a dominant model. No association was detected for the SNP rs590223. We did not find any correlation between expression levels and genotypes of the two loci, and it is possible that these SNPs have a functional role in some specific period of embryogenesis. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35526","type":"journal-article","created":{"date-parts":[[2012,8,6]],"date-time":"2012-08-06T20:19:10Z","timestamp":1344284350000},"page":"2170-2175","source":"Crossref","is-referenced-by-count":34,"title":["IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population"],"prefix":"10.1002","volume":"158A","author":[{"given":"Luciano A.","family":"Brito","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camila 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