Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis
S Hofmann, A Franke, A Fischer, G Jacobs, M Nothnagel, KI Gaede, M Schürmann, J Müller-Quernheim, M Krawczak, P Rosenstiel, S Schreiber · Pneumologie · 2009 · Heft 02
Bibliografische Angaben
Zusammenfassung
Sarcoidosis is a complex chronic inflammatory disorder with predominant manifestation in the lung. In the first genome-wide association study (>440,000 SNPs) of this disease, comprising 499 German individuals with sarcoidosis and 490 controls, we detected a series of genetic associations. The strongest association signal maps to the ANXA11 (annexin A11) gene on chromosome 10q22.3. Validation in an independent sample (1,649 cases, 1,832 controls) confirmed the association (SNP rs2789679: P=3.0×10(-13), rs7091565: P=1.0×10(-5), allele-based test). Extensive fine mapping located the association signal to a region b…
