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Fig. 4 | BMC Medical Genetics

Fig. 4

From: Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591

Fig. 4

Columnar scatter plots of allelic expression imbalance (AEI) for four genes in osteoarthritis (OA) cartilage stratified by genotype at the association SNP rs9350591. AEI for (a) COL12A1, (b) TMEM30A, (c) MYO6 and (d) SENP6. Each dot represents one donor and n is the number of donors studied in each group. CC is the major allele homozygote genotype at rs9350591 whilst CT is the heterozygote genotype at this SNP. Red dots are hip (OA and NOF) cartilage and blue dots are OA knee cartilage. Patients showing allelic expression balance have a value of one on the y-axis whilst deviations from this indicate allelic expression imbalance. Statistical significance was assessed using the Mann–Whitney U test and is not corrected for multiple testing. * p < 0.05

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