{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T13:18:58Z","timestamp":1762521538657},"reference-count":32,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T00:00:00Z","timestamp":1351728000000},"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><jats:bold>BACKGROUND:<\/jats:bold> Cleft lip (CL) with or without palate (CLP) and isolated cleft palate (CP) are etiologically complex diseases with interactions among various environmental and genetic factors. The aim of the current study was to identify association with genetic markers and phenotypic craniofacial data in patients with CL\/CLP\/CP parents.<\/jats:p><jats:p><jats:bold>METHODS:<\/jats:bold> Posteroanterior and lateral digital radiographs of the cranium were obtained from 74 parents of patients with CL\/CLP\/CP. One hundred seventy\u2010three patients with CL\/CLP\/CP and 190 controls were enrolled in the study for the association test. Five genetic markers of the <jats:italic>IRF6<\/jats:italic> gene and 14 markers of the 19q13 locus were genotyped. Linear regression analysis was performed for the relationship of cephalometric measurements with genotype data adjusted for age, gender, and cleft type. Chi\u2010square and transmission disequilibrium tests were performed to evaluate differences in alleles of the <jats:italic>BCL3<\/jats:italic> gene. Positive findings were replicated in an independent sample (n = 95) of patients with CL\/CLP\/CP parents.<\/jats:p><jats:p><jats:bold>RESULTS:<\/jats:bold> Genetic markers of the <jats:italic>BCL3<\/jats:italic> gene at 19q13, rs7257231, and rs1979377 in the familial association test and rs10401176 in the case\u2010control association test, were associated with craniofacial phenotype. Carriers of <jats:italic>BCL3<\/jats:italic> allele rs7257231T had longer posterior cranial bases than noncarriers (<jats:italic>p<\/jats:italic><jats:sub>adjusted<\/jats:sub> = 0.0028), and in the familial\u2010based association test showed the statistically strongest relationship (<jats:italic>p<\/jats:italic><jats:sub>adjusted<\/jats:sub> = 0.05) to phenotype. Relation of rs7257231 to facial formation was confirmed in the replication group (<jats:italic>p<\/jats:italic> = 0.0024).<\/jats:p><jats:p><jats:bold>CONCLUSIONS:<\/jats:bold> The results indicate that <jats:italic>BCL3<\/jats:italic>, which has functions related to cell adhesion and whose downregulation can cause disruption of ectodermal development, is likely to be important in facial formation. Birth Defects Research (Part A), 2012. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/bdra.23085","type":"journal-article","created":{"date-parts":[[2012,11,1]],"date-time":"2012-11-01T05:16:18Z","timestamp":1351746978000},"page":"918-924","source":"Crossref","is-referenced-by-count":3,"title":["BCL3 gene role in facial 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