Article
Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues.
BMC musculoskeletal disorders - 8 Mar 2013
Raine Emma V A, Dodd Andrew W, Reynard Louise N, Loughlin John
Abstract excerpt
BACKGROUND: 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...
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