Table 2.
Selected T2D risk variants associated with breast cancer risk in BCAC at P < 0.05 and their associations in GAME-ON DRIVE project
| BCAC (Cases N=46325/ Controls N=42482) |
GAME-ON DRIVE (Cases N=16003/ Controls N=41335) |
Combined (Cases N=62328/ Controls N=83817) |
||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNPs | Chr | Positiona | Geneb | Allelesc | R-squared | RAFe | ORf | 95% CIf | P-Valuef | RAF | OR | 95% CI | P-Value | ORg | 95% CIg | P-Valueg |
| rs243021 | 2 | 60584819 | BCL11A | A/G | - | 0.46 | 1.02 | (1.00,1.04) | 0.03 | 0.46 | 1.01 | (0.98,1.05) | 0.45 | 1.02 | (1.00,1.04) | 0.02 |
| rs4402960 | 3 | 185511687 | IGF2BP2 | T/G | - | 0.31 | 0.98 | (0.96,1.00) | 0.05 | 0.32 | 0.97 | (0.94,1.01) | 0.13 | 0.98 | (0.96,1.00) | 0.01 |
| rs13292136 | 9 | 81952128 | CHCHD9 | C/T | 0.926 | 0.92 | 1.05 | (1.01,1.09) | 0.02 | 0.94 | 0.98 | (0.92,1.05) | 0.62 | 1.03 | (0.99,1.06) | 0.08 |
| rs7903146 | 10 | 114758349 | TCF7L2 | T/C | - | 0.28 | 1.04 | (1.02,1.07) | 1.20E-4 | 0.30 | 1.04 | (1.00,1.08) | 0.04 | 1.04 | (1.02,1.06) | 1.26E-05 |
| rs7961581 | 12 | 71663102 | TSPAN8,LGR5 | C/T | 0.981 | 0.28 | 0.97 | (0.94,0.99) | 2.48E-3 | 0.26 | 1.00 | (0.96,1.04) | 0.96 | 0.97 | (0.95,0.99) | 9.01E-03 |
| rs8042680 | 15 | 91521337 | PRC1 | A/C | - | 0.31 | 0.98 | (0.95,1.00) | 0.02 | 0.30 | 0.95 | (0.92,0.99) | 6.18E-3 | 0.97 | (0.95,0.99) | 8.05E-04 |
| rs9939609 | 16 | 53820527 | FTO | A/T | 1.000 | 0.40 | 0.93 | (0.91,0.95) | 3.63E-12 | 0.38 | 0.96 | (0.93,0.99) | 0.01 | 0.94 | (0.92,0.95) | 4.13E-13 |
SNP: single nucleotide polymorphism; Chr: Chromosome; BCAC: Breast Cancer Association Consortium; GAME-ON: Genetic Associations and Mechanisms in Oncology; DRIVE: Discovery, Biology, and Risk of Inherited Variants in Breast Cancer; RAF: risk allele frequency; OR: odds ratio; CI: confidence interval;
: The chromosome physical position is based on the National Center for Biotechnology Information (NCBI) database, Build 36.3.
: The closest gene.
: Risk/reference alleles. The risk allele is the allele that associated with increased risk of type 2 diabetes.
: Imputation quality in BCAC; - indicates directly genotyped SNPs.
: Among controls.
: All associations were assessed individually by each study and then combined by a fixed-effects inverse-variance weighted meta-analysis. All models adjusted for first eight principal components for population stratification. Study specific principal component was further adjusted for LMBC study.
: Combined BCAC and GAME-ON DRIVE results by fixed-effects inverse-variance weighted meta-analysis.