RGD Reference Report - A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1. - Rat Genome Database

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A novel sarcoidosis risk locus for Europeans on chromosome 11q13.1.

Authors: Fischer, Annegret  Schmid, Benjamin  Ellinghaus, David  Nothnagel, Michael  Gaede, Karoline I  Schürmann, Manfred  Lipinski, Simone  Rosenstiel, Philip  Zissel, Gernot  Höhne, Kerstin  Petrek, Martin  Kolek, Vitezslav  Pabst, Stefan  Grohé, Christian  Grunewald, Johan  Ronninger, Marcus  Eklund, Anders  Padyukov, Leonid  Gieger, Christian  Wichmann, H-Erich  Nebel, Almut  Franke, Andre  Müller-Quernheim, Joachim  Hofmann, Sylvia  Schreiber, Stefan 
Citation: Fischer A, etal., Am J Respir Crit Care Med. 2012 Nov 1;186(9):877-85. doi: 10.1164/rccm.201204-0708OC. Epub 2012 Jul 26.
RGD ID: 41404683
Pubmed: PMID:22837380   (View Abstract at PubMed)
DOI: DOI:10.1164/rccm.201204-0708OC   (Journal Full-text)


RATIONALE: Sarcoidosis is a complex inflammatory disease with a heterogeneous clinical picture. Among others, an acute and chronic clinical course can be distinguished, for which specific genetic risk factors are known.
OBJECTIVES: To identify additional risk loci for sarcoidosis and its acute and chronic subforms, we analyzed imputed data from a genome-wide association scan for these phenotypes.
METHODS: After quality control, the genome-wide association scan comprised nearly 1.3 million imputed single-nucleotide polymorphisms based on an Affymetrix 6.0 Gene Chip dataset of 564 German sarcoidosis cases, including 176 acute and 354 chronic cases and 1,575 control subjects.
MEASUREMENTS AND MAIN RESULTS: We identified chromosome 11q13.1 (rs479777) as a novel locus influencing susceptibility to sarcoidosis with genome-wide significance. The marker was significantly associated in three distinct German case-control populations and in an additional German family sample with odds ratios ranging from 0.67 to 0.77. This finding was further replicated in two independent European case-control populations from the Czech Republic (odds ratio, 0.75) and from Sweden (odds ratio, 0.79). In a meta-analysis of the included European case-control samples the marker yielded a P value of 2.68 × 10(-18). The locus was previously reported to be associated with Crohn disease, psoriasis, alopecia areata, and leprosy. For sarcoidosis, fine-mapping and expression analysis suggest KCNK4, PRDX5, PCLB3, and most promising CCDC88B as candidates for the underlying risk gene in the associated region.
CONCLUSIONS: This study provides striking evidence for association of chromosome 11q13.1 with sarcoidosis in Europeans, and thus identified a further genetic risk locus shared by sarcoidosis, Crohn disease and psoriasis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
sarcoidosis  HEP 41404683protein:increased expression:alveolus of lung (human)RGD 

Objects Annotated

Genes (Homo sapiens)
PRDX5  (peroxiredoxin 5)


Additional Information