Title |
Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
|
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Published in |
Nature Genetics, March 2009
|
DOI | 10.1038/ng.333 |
Pubmed ID | |
Authors |
Stefanie Birnbaum, Kerstin U Ludwig, Heiko Reutter, Stefan Herms, Michael Steffens, Michele Rubini, Carlotta Baluardo, Melissa Ferrian, 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 |
Abstract |
We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that 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 cases 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. |
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Country | Count | As % |
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United Kingdom | 2 | 1% |
United States | 2 | 1% |
Brazil | 1 | <1% |
Japan | 1 | <1% |
Uruguay | 1 | <1% |
Unknown | 178 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 33 | 18% |
Student > Ph. D. Student | 29 | 16% |
Student > Master | 21 | 11% |
Student > Bachelor | 17 | 9% |
Student > Doctoral Student | 16 | 9% |
Other | 40 | 22% |
Unknown | 29 | 16% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 55 | 30% |
Agricultural and Biological Sciences | 55 | 30% |
Biochemistry, Genetics and Molecular Biology | 32 | 17% |
Mathematics | 2 | 1% |
Computer Science | 2 | 1% |
Other | 6 | 3% |
Unknown | 33 | 18% |