Table 2.
Risk loci for breast cancer identified in the EUGENE gene-based analysis but not in previous GWAS
Locus index | Gene | Chr | Start | N sentinel eQTL | Gene-based P-valuea | Sentinel eQTL with strongest association in the adjusted GWAS | OncoScore | ||
---|---|---|---|---|---|---|---|---|---|
Tested | with P < 0.05 in adjusted GWASb | Variant | P-valueb | ||||||
1 | GSTM2 | 1 | 110210644 | 14 | 5 | 6.63E−08 | rs621414 | 4.08E−05 | 38.97 |
2 | SEMA4A | 1 | 156117157 | 9 | 5 | 1.45E−07 | rs887953 | 2.39E−06 | 27.04 |
3 | LINC00886 | 3 | 156465135 | 1 | 1 | 2.34E−06 | rs7641929 | 2.34E−06 | N/A |
4 | AC034220.3 | 5 | 131646978 | 7 | 4 | 5.92E−07 | rs11739622 | 0.000314 | N/A |
4 | IRF1 | 5 | 131817301 | 2 | 2 | 4.99E−07 | rs2548998 | 3.44E−05 | 42.46 |
5 | SIK2 | 11 | 111473115 | 2 | 2 | 4.09E−07 | rs527078 | 3.32E−05 | 39.57 |
5 | PPP2R1B | 11 | 111597632 | 8 | 2 | 2.31E−06 | rs680096 | 2.91E−06 | 56.52 |
6 | MAN2C1 | 15 | 75648133 | 14 | 6 | 1.91E−06 | rs8028277 | 2.16E−06 | 26.66 |
6 | RP11-817O13.8 | 15 | 75660496 | 4 | 4 | 3.83E−08 | rs4545784 | 3.85E−06 | N/A |
6 | SIN3A | 15 | 75661720 | 4 | 4 | 3.83E−08 | rs4545784 | 3.85E−06 | 42.43 |
6 | IMP3 | 15 | 75931426 | 1 | 1 | 2.30E−06 | rs4886708 | 2.30E−06 | 80.41 |
aGene-based association P-value obtained when the EUGENE gene-based test was applied to the adjusted GWAS results
bP-value in the Michailidou et al. 2. GWAS, adjusted for (i) the association with the sentinel risk variants identified in this study using the COJO-COND test; and (ii) the LD-score intercept