{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T16:12:19Z","timestamp":1770739939747,"version":"3.49.0"},"reference-count":40,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T00:00:00Z","timestamp":1353283200000},"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":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nonsyndromic cleft lip with or without cleft palate (NSCL\/P) is one of the most common craniofacial malformation in humans. Three polymorphisms, rs2235371 and rs642961 in interferon regulatory factor 6 (<jats:italic>IRF6<\/jats:italic>), rs987525 on 8q24, have been shown to be associated with NSCL\/P risk in several studies. However, the magnitudes of the association varied between studies. We therefore performed a meta\u2010analysis to investigate this relationship. Two authors independently extracted information on the characteristics of the eligible studies. Either a fixed\u2010 or a random\u2010effects model was used to calculate the overall combined risk estimates. Overall, 20 published case\u2013control studies were included in the meta\u2010analysis. We found that rs2235371 A allele had a significantly decreased risk (OR: 0.73, 95% CI: 0.61\u20130.88), whereas rs642961 A allele had a significantly increased risk of NSCL\/P (OR: 1.44, 95% CI: 1.30\u20131.59), compared with the G allele. For 8q24 rs987525, the A allele was associated with a significantly increased risk of NSCL\/P, compared with the C allele (OR: 1.71, 95% CI: 1.40\u20132.09). Furthermore, in the stratified analysis by ethnicity and types of NSCL\/P, significant associations were still observed in the subgroups of ethnicity and types. Taken together, the results suggest that the <jats:italic>IRF6<\/jats:italic> rs2235371, rs642961, and 8q24 rs987525 polymorphisms are associated with NSCL\/P risk. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35634","type":"journal-article","created":{"date-parts":[[2012,11,19]],"date-time":"2012-11-19T19:16:19Z","timestamp":1353352579000},"page":"3080-3086","source":"Crossref","is-referenced-by-count":26,"title":["Three polymorphisms in <i>IRF6<\/i> and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: Evidence from 20 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