Letter abstract
Nature Genetics 40, 1103 - 1106 (2008)
Published online: 10 August 2008 | Corrected online: 24 March 2009 | doi:10.1038/ng.198
There is a Corrigendum (April 2009) associated with this Letter.
Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis
Sylvia Hofmann1, Andre Franke1, Annegret Fischer1, Gunnar Jacobs1, Michael Nothnagel2, Karoline I Gaede3, Manfred Schürmann4, Joachim Müller-Quernheim5, Michael Krawczak2, Philip Rosenstiel1 & Stefan Schreiber1,6
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 between exon 5 and exon 14 of ANXA11. A common nonsynonymous SNP (rs1049550, C > T, R230C) was found to be strongly associated with sarcoidosis. The GWAS lead SNP and additional risk variants in the region (rs1953600, rs2573346, rs2784773) were in strong linkage disequilibrium with rs1049550. Annexin A11 has complex and essential functions in several biological pathways, including apoptosis and proliferation.
- Institute of Clinical Molecular Biology, Christian Albrechts University, Kiel D-24105, Germany.
- Institute of Medical Informatics and Statistics, Christian Albrechts University, Kiel D-24105, Germany.
- Research Center Borstel, Borstel D-23845, Germany.
- Institute of Human Genetics, University of Lübeck, Lübeck D-23538, Germany.
- Department of Pneumology, University of Freiburg, Freiburg D-79106, Germany.
- Department of Internal Medicine, Christian Albrechts University, Kiel D-24105, Germany.
Correspondence to: Stefan Schreiber1,6 e-mail: s.schreiber@mucosa.de
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