Table 1

Genetic variants used to generate the genetic risk score

GeneSNPDNA changeReferenceTrait associatedp Value in CaucasiansRAF controls (%)Risk alleleHip geneKnee gene
GDF5rs143383T/CValdes et al11Knee OA8×10–961.9T+
COG5*rs4730250A/GEvangelou et al12Knee OA9×10–919.3G+
MCFL2rs11842874A/GDay-Williams et al13Hip or knee OA9.2×10−991.5A++
PTHLH*rs10492367A/CarcOGEN14Hip OA1.5×10−821.0A+
SUPT3Hrs10948172G/AarcOGEN14Hip or knee OA in men7.9×10−828.6G++
TP63rs12107036A/GarcOGEN14TKR in women6.7×10−853.6G+
GLN3*rs11177A/GarcOGEN14Hip or knee OA7.24×10−1139.0A++
DOT1Lrs12982744C/GCastaño-Betancourt et al15Minimum joint space width†1.1×10−1160.2G+
FTOrs8044769C/TarcOGEN14TKR in women6.8×10−851.3C++
  • *For conciseness only one of the genes in the region is shown. rs4730250 maps to a cluster of genes that comprises COG5, HBP1, GPR22,PRKAR2B, DUS4L and BCAP29. rs10492367 maps between PTLHL and KLHDC5. rs9350591 maps between FILIP1 and SENP6. rs11177 maps to an amino-acid change within GLN3 but is in strong linkage disequilibrium (LD) with variants in the GLT8D1 gene.

  • †Association with hip OA reported is p<1.1×10−4.

  • OA, osteoarthritis; RAF, risk allele frequency; SNP, single nucleotide polymorphism; THR, total hip replacement; TKR, total knee replacement.