RGD Reference Report - Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22. - Rat Genome Database

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Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22.

Authors: Raine, EV  Wreglesworth, N  Dodd, AW  Reynard, LN  Loughlin, J 
Citation: Raine EV, etal., Ann Rheum Dis. 2012 Dec;71(12):2020-7. doi: 10.1136/annrheumdis-2012-201304. Epub 2012 May 14.
RGD ID: 10402054
Pubmed: PMID:22586168   (View Abstract at PubMed)
DOI: DOI:10.1136/annrheumdis-2012-201304   (Journal Full-text)

OBJECTIVES: An osteoarthritis (OA) susceptibility locus has been mapped to chromosome 7q22, to a region of high-linkage disequilibrium encompassing six genes: PRKAR2B, HBP1, COG5, GPR22, DUS4L and BCAP29. The authors assessed whether these genes were subject to cis-acting regulatory polymorphisms that are active in joint tissues and which could contribute to the association signal. METHODS: Using joint tissues from 156 patients with OA, and control cartilage from 25 patients who had neck of the femur fractures, the authors measured the overall gene expression by quantitative PCR and the allelic expression of the genes, using an assay that can distinguish mRNA output from each allele of a transcript single nucleotide polymorphism. RESULTS: Five of the genes were expressed in joint tissues, the exception being GPR22, which the authors could not detect. In OA cartilage compared with control cartilage, significantly reduced expression levels were observed for these five genes. Carriers of the OA-associated alleles showed a significant reduction in expression of HBP1 in cartilage (p=0.0002) and synovium (p=0.02), and of DUS4L in fat pad (p=0.04). HBP1 and DUS4L also demonstrated allelic expression imbalance across a range of different joint tissues, with carriers of the associated allele showing an HBP1 allelic expression imbalance profile that was significantly different from non-carriers (p=0.008). CONCLUSION: Cis-acting regulatory polymorphisms acting on HBP1 contribute to the OA association signal at chromosome 7q22. HBP1 codes for a transcription factor and studies by the authors have enabled them to prioritise this gene for further investigation.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
osteoarthritis  IEP 10402054 RGD 
osteoarthritis  ISOHBP1 (Homo sapiens)10402054; 10402054 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hbp1  (HMG-box transcription factor 1)

Genes (Mus musculus)
Hbp1  (high mobility group box transcription factor 1)

Genes (Homo sapiens)
HBP1  (HMG-box transcription factor 1)


Additional Information