{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T18:11:40Z","timestamp":1773166300779,"version":"3.50.1"},"reference-count":45,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,3,17]],"date-time":"2003-03-17T00:00:00Z","timestamp":1047859200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Medical Birth Registry of Norway"},{"name":"Locus for Registry Epidemiology, University of Bergen"},{"DOI":"10.13039\/100000066","name":"U.S. National Institute of Environmental Health Sciences","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000066","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"U.S. National Institutes of Health","doi-asserted-by":"crossref","award":["DE08559"],"award-info":[{"award-number":["DE08559"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"U.S. National Institutes of Health","doi-asserted-by":"crossref","award":["DE11948"],"award-info":[{"award-number":["DE11948"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100005416","name":"Norwegian Research Council","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2003,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We selected 262 case\u2010parent triads from a population\u2010based study of orofacial clefts in Norway, and examined variants of developmental genes <jats:italic>TGFA, TGFB3<\/jats:italic>, and <jats:italic>MSX1<\/jats:italic> in the etiology of orofacial clefts. One hundred seventy\u2010four triads of cleft lip cases (CL\u00b1P) and 88 triads of cleft palate only cases (CPO) were analyzed. There was little evidence for an association of any of these genes with CL\u00b1P. The strongest association was a 1.7\u2010fold risk with two copies of the <jats:italic>TGFB3<\/jats:italic>\u2010CA variant (95% CI=0.9\u20133.0). Among CPO cases, there was a 3\u2010fold risk with two copies of the <jats:italic>TGFA<\/jats:italic> TaqI A2 allele, and no increase with one copy. Assuming this to be a recessive effect, we estimated a 3.2\u2010fold risk among babies homozygous for the variant (95% CI=1.1\u20139.2). Furthermore, there was strong evidence of gene\u2010gene interaction. While there was only a weak association of the <jats:italic>MSX1<\/jats:italic>\u2010CA variant with CPO, the risk was 9.7\u2010fold (95% CI=2.9\u201332) among children homozygous for both the <jats:italic>MSX1<\/jats:italic>\u2010CA A4 allele and the <jats:italic>TGFA<\/jats:italic> A2 allele. No association of CPO with the <jats:italic>TGFA<\/jats:italic> variant was seen among the other <jats:italic>MSX1<\/jats:italic>\u2010CA genotypes. In conclusion, no strong associations were found between CL\u00b1P and variants at these three genes. There was a possible recessive effect of the <jats:italic>TGFA<\/jats:italic> TaqI variant on the risk of CPO, with a 3\u2010fold risk among children homozygous for the variant. The effect of this <jats:italic>TGFA<\/jats:italic> genotype was even stronger among children homozygous for the <jats:italic>MSX1<\/jats:italic>\u2010CA A4 allele, raising the possibility of interaction between these two genes. <jats:italic>Genet Epidemiol<\/jats:italic> 24:230\u2013239, 2003. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gepi.10223","type":"journal-article","created":{"date-parts":[[2003,3,19]],"date-time":"2003-03-19T11:59:29Z","timestamp":1048075169000},"page":"230-239","source":"Crossref","is-referenced-by-count":64,"title":["Variants of developmental genes (<i>TGFA, TGFB3<\/i>, and <i>MSX1<\/i>) and their associations with orofacial clefts: A case\u2010parent triad analysis"],"prefix":"10.1002","volume":"24","author":[{"given":"Astanand","family":"Jugessur","sequence":"first","affiliation":[]},{"given":"Rolv T.","family":"Lie","sequence":"additional","affiliation":[]},{"given":"Allen 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