Genotype association with radiographic severity of knee osteoarthritis (OA) in two populations
| NYUHJD population (n=80*) | Duke POP study (n=50) | |||
|---|---|---|---|---|
| Gene | rs Number | Genotypes compared | Kellgren–Lawrence score >2 (odds ratio (CI)) | Kellgren–Lawrence score >2 (odds ratio (CI)) |
| IL1A(+4845) | rs17561 | GG vs GT/TT | 1.26 (0.48 to 3.28); p=0.63 | |
| IL1B(−511) | rs16944 | CC vs CT/TT | 0.89 (0.32 to 2.47); p=0.82 | |
| IL1B(−1464) | rs1143623 | GG vs GC/CC | 1.96 (0.75 to 5.11); p=0.17 | |
| IL1B(−3737) | rs4848306 | CC vs CT/TT | 1.25 (0.45 to 3.48); p=0.68 | |
| IL1B(+3954) | rs1143634 | CC vs CT/TT | 1.36 (0.53 to 3.47); p=0.52 | |
| IL1B(+3877) | rs1143633 | GG vs GA/AA | 1.12 (0.43 to 2.91); p=0.81 | |
| IL1RN(+2018) | rs419598 | TT vs CT/CC | 0.49 (0.175 to 1.37); p=0.174 | 0.031 (0.004 to 0.27); p=0.0016† |
| IL1RN | rs315952 | CC/CT vs TT | 0.46 (0.15 to 1.20); p=0.113 | 0.32 (0.090 to 1.00); p=0.071 |
| IL1RN | rs9005 | GG vs GA/AA | 0.25 (0.091 to 0.680); p=0.0067‡ | 0.084 (0.02 to 0.343); p=0.0006† |
| IL1RN haplotype | rs419598/rs315952/rs9005 | Haplotype C,T,A (1 or 2 copies) vs no copies | 0.29 (0.09 to 0.93); p=0.037† | 0.031 (0.004 to 0.270); p=0.0016† |
| TNFA(−308) | rs1800629 | GG vs GA/AA | 1.37 (0.040 to 4.70); p=0.62 | |
| IL10(−1082) | rs1800896 | CC vs CT/TT | 3.00 (0.87 to 10.34); p=0.081 | |
| IL10(−819) | rs1800871 | CC vs CT/TT | 3.32 (1.08 to 10.28); p=0.037 | |
| IL10(−592) | rs1800872 | CC vs CA/AA | 3.32 (1.08 to 10.28)§; p=0.037 | |
| ESR1_PvuII | rs2234693 | TT vs CT/CC | 0.57 (0.22 to 1.49); p=0.25 | |
| ESR1_Xbal | rs9340799 | AA vs AG/GG | 0.48 (0.18 to 1.25); p=0.13 |
Results in bold indicate significant association with decreased risk for severe OA.
↵* Number of Caucasian patients with knee osteoarthritis who met inclusion criteria and had complete genotype data.
↵† IL1RN single nucleotide polymorphisms (SNPs) of interest from the NYUHJD population were then tested in the Duke POP population, and common haplotypes in the IL1RN gene were tested in both populations. p Values <0.05 were considered statistically significant. All other SNPs tested in the NYUHJD population were subsequently evaluated in the POP patients, and none were significant (data not shown).
‡ For each single SNP, p values <0.027 were considered statistically significant to account for multiple comparisons in the discovery population (NYUHJD) involving 15 SNPs.
↵§ IL10(−819) and IL10(−592) alleles were completely concordant in this population.
NYUHJD, New York University Hospital for Joint Diseases; POP, Prediction of Osteoarthritis Progression study.