We conducted a genome-wide association study involving 224 patients and 383 controls of Central European origin in order to identify novel susceptibility loci for non-syndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with strongly significant evidence for association with the cleft phenotype, including four markers which reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated patients and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10-24. The odds ratio was 2.57 (95% CI: 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI: 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24

RUBINI, Michele;BALUARDO, Carlotta;FERRIAN, Melissa;
2009

Abstract

We conducted a genome-wide association study involving 224 patients and 383 controls of Central European origin in order to identify novel susceptibility loci for non-syndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with strongly significant evidence for association with the cleft phenotype, including four markers which reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated patients and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10-24. The odds ratio was 2.57 (95% CI: 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI: 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.
Stefanie, Birnbaum; Kerstin U., Ludwig; Heiko, Reutter; Stefan, Herms; Michael, Steffens; Rubini, Michele; Baluardo, Carlotta; Ferrian, Melissa; Nilma Almeida de, Assis; Margrieta A., Alblas; Sandra, Barth; Jan, Freudenberg; Carola, Lauster; Gül, Schmidt; Martin, Scheer; Bert, Braumann; Stefaan J., Bergé; Rudolf H., Reich; Franziska, Schiefke; Alexander, Hemprich; Simone, Pötzsch; Regine P., Steegers Theunissen; Bernd, Pötzsch; Susanne, Moebus; Bernhard, Horsthemke; Franz Josef, Kramer; Thomas F., Wienker; Peter A., Mossey; Peter, Propping; Sven, Cichon; Per, Hoffmann; Michael, Knapp; Markus M., Nöthen; Elisabeth, Mangold
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/533501
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