Table 3.
Discovery and replication set results.
| rsID | Gene | Discovery set P-valuea | UCSF discovery set (n = 692)b | Mayo Clinic (n = 176) | UK series (n = 631) | US series (n = 1,247) | French series (n = 1,423) | German series (n = 846) | Meta-analysis (n = 5,015)d | P-value for heterogeneitye |
|---|---|---|---|---|---|---|---|---|---|---|
|
Odds ratio (two-sided 95% confidence interval) |
||||||||||
| rs11127125 | BRE | 5.75E-03 | 0.83 (0.71, 0.96) | 1.25 (0.87, 1.81) | 0.89 (0.77, 1.04) | 1.17 (1.03, 1.31)* | 1.06 (0.93, 1.21) | 1.00 (0.86, 1.17) | 0.99 (0.93, 1.05) | 0.61 |
| rs4464229 | BRE | 5.05E-04 | 0.77 (0.65, 0.90) | 1.37 (0.93, 2.01) | NAc | NA | NA | NA | 0.91 (0.81, 1.02) | 0.28 |
| rs4666020 | BRE | 2.90E-04 | 0.76 (0.64, 0.89) | 1.37 (0.93, 2.02) | 0.91 (0.77, 1.07) | 1.16 (1.02, 1.31)* | 1.04 (0.90, 1.20) | 1.02 (0.87, 1.19) | 0.98 (0.92, 1.04) | 0.41 |
| rs4666022 | BRE | 3.38E-03 | 0.82 (0.70, 0.95) | NA | NA | NA | NA | NA | NA | - |
| rs10175508 | BRE | 7.40E-04 | 0.79 (0.68, 0.91) | 1.21 (0.84, 1.74) | 0.89 (0.77, 1.04) | 1.13 (1.01, 1.27)* | 1.06 (0.93, 1.21) | 1.00 (0.86, 1.16) | 0.98 (0.93, 1.04) | 0.46 |
| rs10173528 | BRE | 7.80E-03 | 0.86 (0.77, 0.97) | 1.11 (0.82, 1.50) | 0.92 (0.81, 1.05) | 1.02 (0.92, 1.13) | 1.00 (0.90, 1.12) | 1.10 (0.97, 1.24) | 0.98 (0.94, 1.03) | 0.77 |
| rs10173426 | BRE | 4.09E-03 | 0.85 (0.75, 0.96) | 1.10 (0.80, 1.50) | 0.89 (0.78, 1.01)* | 1.00 (0.90, 1.10) | 0.97 (0.87, 1.09) | 1.07 (0.94, 1.22) | 0.98 (0.93, 1.02) | 0.83 |
| rs13402525 | BRE | 5.40E-03 | 0.85 (0.75, 0.96) | 1.08 (0.79, 1.48) | 0.89 (0.78, 1.01)* | 1.00 (0.90, 1.11) | 0.98 (0.87, 1.09) | 1.08 (0.95, 1.23) | 0.98 (0.93, 1.03) | 0.81 |
| rs3863 | BRE | 9.10E-03 | 1.15 (1.02, 1.30) | 0.87 (0.63, 1.21) | NA | NA | NA | NA | 1.03 (0.92, 1.16) | 0.57 |
| rs11131194 | RPUSD3 | 1.98E-03 | 0.84 (0.75, 0.95) | 0.73 (0.53, 1.02)* | 0.90 (0.79, 1.02) | 1.01 (0.91, 1.12) | 1.06 (0.95, 1.19) | 0.93 (0.82, 1.05) | 0.97 (0.92, 1.01) | 0.61 |
| rs2279895 | RBM27 | 6.95E-03 | 1.17 (1.03, 1.33) | 0.96 (0.69, 1.34) | 1.04 (0.91, 1.19) | 1.01 (0.91, 1.12) | 1.10 (0.98, 1.25) | 0.99 (0.86, 1.13) | 1.02 (0.97, 1.08) | 0.97 |
| rs11953506 | RBM27 | 7.75E-04 | 1.23 (1.08, 1.40) | 0.86 (0.62, 1.21) | 1.04 (0.90, 1.19) | 1.03 (0.92, 1.15) | 1.10 (0.97, 1.24) | 0.97 (0.84, 1.12) | 1.02 (0.96, 1.08) | 0.89 |
| rs11953090 | RBM27 | 1.12E-03 | 1.22 (1.07, 1.39) | 0.87 (0.62, 1.22) | 1.04 (0.90, 1.19) | 1.01 (0.91, 1.13) | 1.10 (0.97, 1.25) | 0.96 (0.84, 1.11) | 1.02 (0.96, 1.07) | 0.89 |
| rs2304033 | RBM27 | 1.03E-03 | 1.22 (1.08, 1.39) | 0.87 (0.62, 1.22) | 1.03 (0.90, 1.19) | 1.01 (0.91, 1.13) | 1.10 (0.97, 1.25) | 0.96 (0.84, 1.11) | 1.02 (0.96, 1.07) | 0.87 |
| rs13155119 | RBM27 | 1.17E-03 | 1.22 (1.07, 1.39) | 0.87 (0.62, 1.22) | 1.04 (0.91, 1.20) | 1.01 (0.91, 1.13) | 1.10 (0.97, 1.24) | 0.97 (0.84, 1.11) | 1.02 (0.96, 1.07) | 0.90 |
| rs3829070 | SMARCA2 | 2.69E-03 | 0.76 (0.63, 0.92) | 0.72 (0.42, 1.24) | 0.91 (0.75, 1.11) | 0.93 (0.80, 1.09) | 1.15 (0.97, 1.36) | 0.93 (0.77, 1.13) | 0.95 (0.89, 1.02) | 0.69 |
| rs3829072 | SMARCA2 | 2.17E-04 | 0.71 (0.58, 0.86) | 1.00 (0.61, 1.66) | 1.07 (0.89, 1.28) | 0.87 (0.75, 1.01)* | 1.09 (0.92, 1.29) | 0.84 (0.69, 1.01)* | 0.94 (0.89, 1.01) | 0.53 |
| rs10964907 | SMARCA2 | 2.19E-03 | 0.74 (0.61, 0.91) | 0.88 (0.51, 1.52) | 1.00 (0.82, 1.22) | 0.88 (0.75, 1.04) | 1.10 (0.92, 1.31) | 0.85 (0.69, 1.04) | 0.94 (0.88, 1.01) | 0.73 |
| rs870272 | MORN5 | 1.03E-03 | 0.83 (0.73, 0.93) | 1.04 (0.75, 1.44) | 0.95 (0.84, 1.08) | 0.97 (0.88, 1.07) | 0.95 (0.85, 1.06) | 0.89 (0.79, 1.01)* | 0.96 (0.92, 1.01) | 0.93 |
| rs3745516 | SPIB | 1.60E-03 | 0.81 (0.70, 0.93) | 0.78 (0.54, 1.14) | 1.03 (0.89, 1.19) | 1.10 (0.98, 1.23) | 0.97 (0.85, 1.09) | 0.94 (0.82, 1.09) | 0.98 (0.93, 1.03) | 0.64 |
ap-Values are one-sided.
bn = number of cases.
cNA, data not available.
dn = 868 for rs4464229 and rs3863.
eHeterogeneity assessed using Cochran’s Q statistic (Cochran, 1954).
*Statistical significance at P < 0.05.