Title |
Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues
|
---|---|
Published in |
BMC Musculoskeletal Disorders, March 2013
|
DOI | 10.1186/1471-2474-14-85 |
Pubmed ID | |
Authors |
Emma V A Raine, Andrew W Dodd, Louise N Reynard, John Loughlin |
Abstract |
The single nucleotide polymorphism (SNP) rs2615977 is associated with osteoarthritis (OA) and is located in intron 31 of COL11A1, a strong candidate gene for this degenerative musculoskeletal disease. Furthermore, the common non-synonymous COL11A1 SNP rs1676486 is associated with another degenerative musculoskeletal disease, lumbar disc herniation (LDH). rs1676486 is a C-T transition mediating its affect on LDH susceptibility by modulating COL11A1 expression. The risk T-allele of rs1676486 leads to reduced expression of the COL11A1 transcript, a phenomenon known as allelic expression imbalance (AEI). We were keen therefore to assess whether the effect that rs1676486 has on COL11A1 expression in LDH is also observed in OA and whether the rs2615977 association to OA also marked AEI. |
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