Table 2.
Associations between ESR1 and PGR SNPs and gene expression of ESR1 and PGR by RT-PCR
| Mean ESR1 or PGR Reference-normalized Gene Expression by Genotype (SD, n) |
Results from Additive Genetic Model |
|||||||
|---|---|---|---|---|---|---|---|---|
| Gene | rsID | Homozygous Wild Type | Heterozygous | Homozygous Variant | Effect per Variant Allele (SE) | 95% CI (low) | 95% CI (high) | P Value |
| ESR1 | rs750686 | 9.78 (1.42, 31) | 10.22 (1.20, 50) | 9.56 (1.20, 12) | 0.034 (0.208) | −0.373 | 0.442 | 0.87 |
| rs1062577 | 9.97 (1.36, 78) | 10.02 (1.02, 9) | NA (NA, 0) | 0.054 (0.468) | −0.863 | 0.971 | 0.91 | |
| rs1884049 | 9.89 (1.35, 60) | 10.23 (1.20, 24) | 9.59 (1.32, 3) | 0.148 (0.259) | −0.360 | 0.656 | 0.57 | |
| rs2077647 | 10.00 (1.25, 22) | 9.89 (1.38, 52) | 10.19 (1.11, 18) | −0.083 (0.206) | −0.487 | 0.321 | 0.69 | |
| rs2228480 | 9.84 (1.30, 45) | 10.18 (1.35, 40) | 9.83 (0.744, 6) | 0.167 (0.221) | −0.266 | 0.600 | 0.45 | |
| rs2234693 | 10.22 (1.37, 20) | 9.94 (1.31, 54) | 9.88 (1.19, 19) | −0.169 (0.207) | −0.575 | 0.237 | 0.42 | |
| rs2347869 | 9.86 (1.26, 32) | 10.22 (1.31, 46) | 9.60 (1.22, 14) | −0.029 (0.199) | −0.419 | 0.361 | 0.89 | |
| rs2813543 | 10.11 (1.23, 61) | 9.67 (1.39, 26) | 10.74 (1.50, 3) | −0.159 (0.252) | −0.653 | 0.335 | 0.53 | |
| rs2982734 | 9.74 (1.41, 29) | 10.21 (1.21, 50) | 9.59 (1.26, 11) | 0.076 (0.215) | −0.345 | 0.498 | 0.72 | |
| rs3003917 | 9.93 (1.33, 50) | 10.08 (1.26, 28) | 10.35 (1.31, 6) | 0.184 (0.226) | −0.259 | 0.627 | 0.42 | |
| rs3020371 | 9.71 (1.52, 26) | 10.18 (1.19, 50) | 9.49 (1.31, 10) | 0.055 (0.232) | −0.400 | 0.510 | 0.81 | |
| rs3020376 | 9.81 (1.40, 49) | 10.39 (1.01, 26) | 9.77 (0.933, 10) | 0.156 (0.197) | −0.230 | 0.542 | 0.43 | |
| rs3020377 | 9.92 (1.34, 33) | 10.04 (1.28, 43) | 9.96 (1.35, 13) | 0.039 (0.203) | −0.359 | 0.437 | 0.85 | |
| rs3020410 | 9.81 (1.37, 64) | 10.46 (1.10, 22) | 10.77 (NA, 1) | 0.618 (0.294) | 0.042 | 1.194 | 0.039 | |
| rs3798577 | 10.17 (1.07, 20) | 9.85 (1.41, 52) | 10.16 (1.22, 18) | −0.010 (0.212) | −0.426 | 0.406 | 0.96 | |
| rs4870056 | 10.11 (1.31, 19) | 9.96 (1.30, 50) | 10.11 (1.34, 16) | −0.005 (0.220) | −0.437 | 0.426 | 0.98 | |
| rs4870061 | 9.74 (1.34, 54) | 10.16 (1.22, 26) | 10.77 (1.23, 8) | 0.478 (0.209) | 0.068 | 0.888 | 0.025 | |
| rs6930355 | 10.06 (1.29, 67) | 9.97 (1.19, 24) | 6.86 (NA, 1) | −0.336 (0.284) | −0.893 | 0.221 | 0.24 | |
| rs9322331 | 9.87 (1.32, 39) | 10.18 (1.25, 43) | 9.74 (1.40, 10) | 0.065 (0.206) | −0.339 | 0.469 | 0.75 | |
| rs9322335 | 9.84 (1.17, 51) | 10.18 (1.40, 34) | 10.33 (1.58, 7) | 0.288 (0.211) | −0.126 | 0.702 | 0.18 | |
| rs9322336 | 9.72 (1.27, 57) | 10.38 (1.24, 25) | 10.96 (1.57, 5) | 0.640 (0.228) | 0.193 | 1.087 | 0.0061 | |
| rs9340799 | 9.89 (1.33, 36) | 10.09 (1.23, 47) | 9.84 (1.51, 10) | 0.047 (0.209) | −0.363 | 0.457 | 0.82 | |
| rs9340835 | 10.27 (1.35, 40) | 9.66 (1.34, 37) | 9.70 (0.582, 9) | −0.404 (0.210) | −0.816 | 0.008 | 0.06 | |
| rs9340958 | 9.97 (1.36, 75) | 10.07 (1.00, 18) | NA (NA, 0) | 0.100 (0.341) | −0.569 | 0.768 | 0.77 | |
| rs9341004 | 10.10 (1.20, 75) | 9.73 (1.48, 15) | NA (NA, 0) | −0.376 (0.354) | −1.070 | 0.318 | 0.29 | |
| rs9341066 | 9.92 (1.28, 80) | 10.43 (1.33, 13) | NA (NA, 0) | 0.510 (0.385) | −0.245 | 1.265 | 0.19 | |
| rs9479188 | 10.02 (1.29, 65) | 9.94 (1.22, 22) | 8.28 (2.01, 2) | −0.324 (0.273) | −0.859 | 0.211 | 0.24 | |
| PGR | rs500760 | 7.45 (1.84, 46) | 8.09 (1.58, 26) | 8.33 (0.461, 6) | 0.521 (0.301) | −0.069 | 1.111 | 0.09 |
| rs506487 | 7.96 (1.79, 39) | 7.72 (1.38, 37) | 6.29 (2.17, 6) | −0.557 (0.294) | −1.133 | 0.019 | 0.06 | |
| rs516693 | 7.54 (1.62, 59) | 8.21 (1.82, 22) | 8.83 (NA, 1) | 0.670 (0.381) | −0.077 | 1.417 | 0.08 | |
| rs518162 | 7.97 (1.55, 65) | 6.88 (2.13, 10) | 4.94 (1.74, 2) | −1.285 (0.413) | −2.094 | −0.476 | 0.0026 | |
| rs660149 | 7.85 (1.62, 36) | 7.55 (1.74, 39) | 7.85 (1.80, 6) | −0.139 (0.303) | −0.733 | 0.455 | 0.65 | |
| rs1042838 | 7.64 (1.83, 64) | 8.06 (0.935, 18) | 8.32 (NA, 1) | 0.400 (0.404) | −0.392 | 1.192 | 0.33 | |
| rs11571171 | 7.71 (1.70, 32) | 7.46 (1.60, 33) | 8.88 (1.03, 15) | 0.453 (0.243) | −0.023 | 0.929 | 0.07 | |
SNP, single nucleotide polymorphism; CI, confidence interval, NA, not applicable. Boldface font indicates statistically significant association (P < 0.01).