Table 4.

Functional studies performed on GDF5 SNP rs143383

Functional study	Outcome	Refs
Luciferase assay in chondrocytic cell line HCS-2/8	T-allele shows reduced expression relative to the C-allele	32
GDF5 allelic expression analysis (AEI) on cartilage RNA from OA patients	T-allele shows reduced expression relative to the C-allele	33
GDF5 AEI on RNA extracted from other joint tissues	T-allele shows reduced expression relative to the C-allele	34
Investigation of additional GDF5 5′UTR SNPs	rs143383′s effect on gene expression is modulated by rs143384	34
Investigation of GDF5 3′UTR SNPs	rs56366915 independently influences gene expression	34
EMSA, ChIP and RNA knockdown in liposarcoma cell line SW872	Sp1, Sp3, P15 and DEAF-1 bind differentially to the rs143383 alleles	35
CpG DNA methylation analysis	Demethylation exacerbates the AEI mediated by rs143383	40