Table 2.
Genes associated with endometrial cancer risk as identified by MR-JTI.
| Tissue | Locus | Gene | JTI | MR-JTI | ||
|---|---|---|---|---|---|---|
| Z-score | P-value | Beta | 95% CI | |||
| Subcutaneous adipose | 15q21.2 | CYP19A1 | 7.03 | 2.00E−12 | 0.35 | (0.04, 0.57) |
| 16p12.1 | NPIPB6 | 4.78 | 1.74E−06 | −0.07 | (−0.23, 0.33) | |
| 17q21.32 | SNX11 | 4.90 | 9.45E−07 | 0.35 | (0.04, 0.69) | |
| 17q21.32 | AC004477.3 | −4.89 | 1.03E−06 | −0.33 | (−0.66, 0.04) | |
| Visceral omentum adipose | 15q21.2 | CYP19A1 | 6.40 | 1.51E−10 | 0.29 | (0.04, 0.50) |
| 17q21.32 | SNX11 | 4.86 | 1.19E−06 | 0.58 | (0.38, 0.83) | |
| Ovary | 6q22.31 | HEY2 | −5.82 | 5.89E−09 | 0.13 | (−0.12, 0.36) |
| 15q15.1 | AC021755.2 | 4.74 | 2.09E−06 | −0.04 | (−0.27, 0.37) | |
| 15q15.1 | AC021755.3 | 4.92 | 8.61E−07 | −0.01 | (−0.31, 0.35) | |
| 15q15.1 | EIF2AK4 | 5.09 | 3.64E−07 | −0.08 | (−0.36, 0.24) | |
| 17q21.32 | AC004477.1 | 4.56 | 5.20E−06 | 0.02 | (−0.34, 0.25) | |
| 17q21.32 | SNX11 | 4.64 | 3.43E−06 | 0.52 | (0.25B 0.81) | |
| Uterus | 15q15.1 | AC021755.3 | 4.78 | 1.77E−06 | 0.32 | (0.10, 0.54) |
| Vagina | 3q21.3 | EEFSEC | 4.61 | 4.00E−06 | 0.36 | (0.20, 0.62) |
| 15q15.1 | EIF2AK4 | 5.31 | 1.07E−07 | 0.29 | (0.09, 0.49) | |
| 17q21.32 | SNX11 | 4.52 | 6.14E−06 | 0.08 | (−0.17, 0.35) | |
| Whole blood | 3q21.3 | EEFSEC | 4.66 | 3.20E−06 | 0.13 | (−0.11, 0.40) |
| 15q21.2 | CYP19A1 | 6.03 | 1.61E−09 | 0.09 | (−0.08, 0.42) | |
| 17q21.32 | SKAP1 | −4.63 | 3.61E−06 | −0.09 | (−0.37, 0.26) | |
| 17q21.32 | SNX11 | 4.73 | 2.22E−06 | 0.40 | (0.20, 0.81) | |
Bonferroni corrected P value thresholds were: 3.7 × 10−6 (13,526 genes tested) in JTIsubcutaneous adipose; 3.9 × 10−6 (12,949 genes tested) in JTIvisceral omentum adipose; 5.8 × 10−6 (8615 genes tested) in JTIOvary; 7.1 × 10−6 (7049 genes tested) in JTIuterus; 7.0 × 10−6 (7191 genes tested) in JTIvagina and 4.9 × 10−6 (10,140 genes tested) in JTIwhole blood. Bolded findings have evidence of causality in MR-JTI analyses.