Article
Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus.
Osteoarthritis and cartilage - 1 Apr 2011
Dodd A W, Rodriguez-Fontenla C, Calaza M, Carr A, Gomez-Reino J J, Tsezou A, Reynard L N, Gonzalez A, Loughlin J
Abstract excerpt
OBJECTIVE: The common single nucleotide polymorphism (SNP) rs143383 in the 5' untranslated region (5'UTR) of growth and differentiation factor 5 (GDF5) is strongly associated with osteoarthritis (OA) and influences GDF5 allelic expression in vitro and in the joint tissues of OA patients. This effect is modulated in cis by another common SNP, also located within the 5'UTR, whilst a common SNP in the 3'UTR...
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