Table 3.
Independent association signals in the meta-analysis of BCAC (ER-) and BRCA1 mutation carriers from CIMBA
| SNPs | Position (hg 19) | Alleles | EAF | LD (r 2)§ | Univariate analysis | Conditional analysis | |||
|---|---|---|---|---|---|---|---|---|---|
| Per-allele effect (95 % CI)a | P-trend | Per-allele effect (95 % CI)b | P-trend | ||||||
| Indexǂ | rs10771399 | 28155080 | G*/A | 0.10 | - | 0.86 (0.80–0.91) | 3 × 10-6 | - | - |
| Meta-analysis of ER-negative cancer (BCAC + CIMBA) | |||||||||
| BCAC ER- | |||||||||
| Signal 1 | rs7297051 | 28174817 | T*/C | 0.24 | 0.42 | 0.87 (0.83–0.91) | 3 × 10-10 | 0.89 (0.85–0.94) | 1 × 10-5 |
| Signal 4 | rs113824616 | 28184905 | C*/T | 0.05 | 0.40 | 0.75 (0.67–0.84) | 5 × 10-7 | 0.86 (0.76–0.98) | 0.02 |
| CIMBA BRCA1 mutation carriers | |||||||||
| Signal 1 | rs7297051 | 28174817 | T*/C | 0.23 | 0.37 | 0.89 (0.85–0.93) | 3 × 10-7 | 0.94 (0.90–0.98) | 0.003 |
| Signal 4 | rs113824616 | 28184905 | C*/T | 0.04 | 0.49 | 0.73 (0.64–0.82) | 1 × 10-7 | 0.83 (0.74–0.93) | 0.001 |
Effect for Breast Cancer Association Consortium (BCAC): odds ratio; effect for Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) cohort: hazard ratio. *Effect alleles. aAdjusted for studies, and the top principal components. bIncluded both variants, and adjusted for studies and the top principal components. SNPs single nucleotide polymorphisms, EAF effect allele frequency in the or (BCAC) controls, LD linkage disequilibrium, CI confidence interval, ER estrogen receptor. §represents LD with the index SNP rs10771399. ǂrepresented the index SNP, Identified in the initial genome-wide association study conducted in women of European descent [1]