Table 3:
Replication Testing in the UK Biobank of SNPs Associated with Rotator Cuff Disease in the Prior Literature
| Chromosome | SNP | Gene | Prior study information | A1 | Results from UK Biobank | |||
|---|---|---|---|---|---|---|---|---|
| First Author | Cases, N | CG vs. GWAS | OR (95% CI) | p-value | ||||
| 1 | rs4654760 | ALPL | Peach | 22 | CG | T | 1.00 (0.890, 1.12) | 0.958 |
| 5 | rs3045 | ANKH | Peach | 22 | CG | C | 1.01 (0.916, 1.10) | 0.910 |
| 5 | rs1011814 | FGF10 | Motta | 203 | CG | T | 1.03 (0.967, 1.09) | 0.393 |
| 5 | rs11750845 | FGF10 | Motta | 203 | CG | C | 1.01 (0.956, 1.07) | 0.687 |
| 6 | rs12527089 | SASH1 | Tashjian | 311 | GWAS | T | 0.959 (0.836, 1.10) | 0.545 |
| 8 | rs13317 | FGFR1 | Motta | 203 | CG | C | 0.961 (0.899, 1.03) | 0.237 |
| 8 | rs1800972 | DEFB1 | Motta | 203 | CG | C | 1.02 (0.956, 1.09) | 0.512 |
| 9 | rs1590 | TGFBR1 | Figueiredo | 211 | CG | G | 1.00 (0.940, 1.07) | 0.937 |
| 9 | rs10759753 | TNC | Kluger | 155 | CG | G | 0.989 (0.927, 1.05) | 0.725 |
| 9 | rs1138545 | TNC | Kluger; Kluger cuff healing | 155; 120 (cuff healing study) | CG | T | 1.06 (0.982, 1.15) | 0.136 |
| 9 | rs2104772 | TNC | Kluger cuff healing, Figueiredo | 120, 211 (Figueiredo) | CG | A | 1.05 (0.991, 1.11) | 0.100 |
| 9 | rs3789870 | TNC | Kluger | 155 | CG | A | 0.994 (0.932, 1.06) | 0.865 |
| 9 | rs7021589 | TNC | Kluger | 155 | CG | C | 1.06 (0.984, 1.15) | 0.122 |
| 9 | rs7035322 | TNC | Kluger | 155 | CG | A | 1.02 (0.959, 1.09) | 0.500 |
| 9 | rs72758637 | TNC | Kluger | 155 | CG | G | 1.07 (0.994, 1.16) | 0.070 |
| 9 | rs3196378 | Col5A1 | Figueiredo | 211 | CG | C | 1.02 (0.967, 1.08) | 0.424 |
| 11 | rs12574452 | FGF3 | Motta | 203 | CG | A | 1.04 (0.982, 1.11) | 0.174 |
| 11 | rs1799750 | MMP1 | Assuncao | 64 | CG | Not measured or did not meet quality control filtering criteria in UK Biobank | ||
| 11 | rs3025058 | MMP3 | Assuncao | 64 | CG | |||
| 11 | rs679620 | MMP3 | Figueiredo | 211 | CG | C | 1.01 (0.957, 1.07) | 0.658 |
| 14 | rs10132091 | ESRRB | Bonato | 49 | CG | C | 0.991 (0.936, 1.05) | 0.760 |
| 14 | rs1676303 | ESRRB | Motta, Bonato | 203 (Motta); 16 (Bonato) | CG | C | 1.00 (0.915, 1.10) | 0.964 |
| 14 | rs17583842 | ESRRB | Teerlink, Tashjian cuff healing | 175 (Teerlink); 30 (Tashjian cuff healing) | CG | C | 0.940 (0.879, 1.01) | 0.072 |
| 14 | rs4903399 | ESRRB | Motta, Bonato | 203 (Motta); 49 (Bonato) | CG | T | 1.03 (0.959, 1.11) | 0.418 |
| 16 | rs2285053 | MMP2 | Figueiredo | 211 | CG | T | 1.08 (0.985, 1.19) | 0.101 |
| 16 | rs71404070 | Roos | 8357 | GWAS | A | 0.993 (0.866, 1.14) | 0.919 | |
| 17 | rs820218 | SAP30BP | Tashjian | 311 | GWAS | A | 0.934 (0.879, 0.991) | 0.025 |
| 17 | rs2277698 | TIMP2 | Figueiredo | 211 | CG | T | 0.870 (0.795, 0.952) | 0.002 |
| 19 | rs1800470 | TFGB1 | Figueiredo | 211 | CG | G | 1.02 (0.961, 1.08) | 0.532 |
| 19 | rs1800469 | TFGB1 | Figueiredo | 211 | CG | A | 1.01 (0.951, 1.08) | 0.710 |
| 20 | rs17576 | MMP9 | Figueiredo | 211 | CG | G | 1.01 (0.949, 1.07) | 0.821 |
CG=candidate gene study, GWAS=genome-wide association study