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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874

Fig. 3

Functional analysis of SNPs within the rs11842874 linkage disequilibrium block. (a) Schematic diagram of the 7 SNPs within the LD block. The SNPs are within an 11.4 kb region located within the MCF2L gene body (intron 3 relative to transcript isoforms 002 and 201); adapted from the UCSC genome browser. Luciferase reporter analyses were performed in (b) SW872 liposarcoma and (c) U2OS osteosarcoma cells. Cells were transfected with luciferase reporter constructs and a renilla reporter vector. Luciferase activity was quantified and normalised to renilla activity and to the empty luciferase vector. Mean luciferase/renilla data is plotted, with error bars representing standard error of the mean from six technical repeats and a minimum of six biological repeats. SNPs are presented in their physical order on the x-axis. Major (risk) alleles are presented as black filled bars, minor alleles as grey filled bars. Two fragments encompassing rs118021693 were analysed; fragment A and the larger fragment B. Statistical significance represents the difference between alleles for each SNP and was assessed using the Mann–Whitney U test, and is not corrected for multiple testing. ns not-significant, *p < 0.05, **p < 0.01, ***p < 0.001

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