Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2008-09

AUTHORS

Sylvia Hofmann, Andre Franke, Annegret Fischer, Gunnar Jacobs, Michael Nothnagel, Karoline I Gaede, Manfred Schürmann, Joachim Müller-Quernheim, Michael Krawczak, Philip Rosenstiel, Stefan Schreiber

ABSTRACT

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 x 10(-13), rs7091565: P = 1.0 x 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, [corrected] 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. More... »

PAGES

1103-1106

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.198

DOI

http://dx.doi.org/10.1038/ng.198

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1019150346

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19165924


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1038/ng.198'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/ng.198'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/ng.198'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/ng.198'


 

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