Table 2.
Genotype distributions under a dominant genetic model for 22 ESR2 single nucleotide polymorphisms (SNPs) and genotype-specific ERβ Allred score percentile cutpointsa (35th and 70th percentile cutpoints for cytoplasmic ERβ, 13th and 40th percentile cutpoints for nuclear ERβ, 30th and 70th percentile cutpoints for total ERβ).
| Cytoplasmic ERβ | Nuclear ERβ | Total ERβ | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||||
| SNP | Genotype | nb | P35 | P70 | p-valuec | P13 | P40 | p-valuec | P30 | P70 | p-valuec |
| rs8021944 | TT | 118 | 5.5 | 7.7 | 0.081 | 5.5 | 7.8 | 0.029 | 5.5 | 7.8 | 0.053 |
| TG+GG | 15 | 7.0 | 8.0 | 7.9 | 8.0 | 7.5 | 8.0 | ||||
|
| |||||||||||
| rs968257 | AA | 44 | 5.5 | 7.8 | 0.576 | 5.0 | 7.9 | 0.439 | 5.5 | 7.9 | 0.500 |
| AG+GG | 77 | 5.8 | 7.8 | 6.5 | 8.0 | 6.2 | 7.9 | ||||
|
| |||||||||||
| rs1152589 | AA | 31 | 6.0 | 8.0 | 0.864 | 7.0 | 8.0 | 0.064 | 6.5 | 8.0 | 0.628 |
| AT+TT | 85 | 5.8 | 7.8 | 5.5 | 7.8 | 5.5 | 7.9 | ||||
|
| |||||||||||
| rs1255998 | CC | 100 | 6.0 | 8.0 | 0.259 | 5.5 | 8.0 | 0.185 | 6.3 | 8.0 | 0.214 |
| CG+GG | 33 | 5.0 | 7.3 | 6.5 | 7.6 | 5.5 | 7.5 | ||||
|
| |||||||||||
| rs8006145 | CC | 61 | 5.6 | 7.5 | 0.570 | 5.5 | 7.7 | 0.068 | 5.5 | 7.8 | 0.390 |
| CA+AA | 60 | 5.9 | 8.0 | 6.5 | 8.0 | 6.3 | 8.0 | ||||
|
| |||||||||||
| rs4986938 AluI | GG | 44 | 5.0 | 7.3 | 0.462 | 5.0 | 7.6 | 0.137 | 5.0 | 7.5 | 0.335 |
| GA+AA | 77 | 5.8 | 8.0 | 6.5 | 8.0 | 6.4 | 8.0 | ||||
|
| |||||||||||
| rs1256063 | CC | 108 | 5.6 | 8.0 | 0.756 | 6.0 | 8.0 | 0.271 | 5.9 | 8.0 | 0.500 |
| CT+TT | 13 | 6.5 | 7.3 | 0.0 | 7.5 | 4.8 | 7.5 | ||||
|
| |||||||||||
| rs1256061 | CC | 33 | 3.0 | 7.3 | 0.054 | 5.0 | 7.4 | 0.022 | 3.3 | 7.5 | 0.039 |
| CA+AA | 88 | 6.0 | 8.0 | 6.5 | 8.0 | 6.5 | 8.0 | ||||
|
| |||||||||||
| rs1952585 | TT | 96 | 6.0 | 8.0 | 0.130 | 5.5 | 8.0 | 0.173 | 6.4 | 8.0 | 0.127 |
| TC+CC | 25 | 5.0 | 7.0 | 6.5 | 7.5 | 5.5 | 7.4 | ||||
|
| |||||||||||
| rs17766755 | GG | 46 | 5.5 | 7.3 | 0.375 | 5.0 | 7.6 | 0.140 | 5.0 | 7.5 | 0.286 |
| GA+AA | 74 | 5.8 | 8.0 | 6.1 | 8.0 | 6.4 | 8.0 | ||||
|
| |||||||||||
| rs1256049 RsaI | GG | 112 | 6.0 | 8.0 | 0.421 | 5.8 | 8.0 | 0.584 | 5.5 | 8.0 | 0.340 |
| GA+AA | 8 | 4.0 | 7.0 | 6.5 | 7.6 | 6.0 | 7.5 | ||||
|
| |||||||||||
| rs8003490 | GG | 110 | 6.0 | 8.0 | 0.054 | 5.5 | 8.0 | 0.119 | 6.6 | 8.0 | 0.065 |
| GA+AA | 23 | 4.0 | 7.0 | 6.1 | 7.5 | 5.0 | 7.5 | ||||
|
| |||||||||||
| rs12435284 | CC | 109 | 5.5 | 7.7 | 0.073 | 5.8 | 7.8 | 0.087 | 5.5 | 7.9 | 0.055 |
| CT+TT | 12 | 7.0 | 8.0 | 7.9 | 8.0 | 7.5 | 8.0 | ||||
|
| |||||||||||
| rs1256036 | AA | 33 | 5.0 | 8.0 | 0.774 | 6.5 | 8.0 | 0.434 | 5.5 | 8.0 | 0.969 |
| AG+GG | 88 | 6.0 | 7.8 | 5.5 | 8.0 | 6.2 | 7.9 | ||||
|
| |||||||||||
| rs1887994 | GG | 102 | 5.6 | 7.8 | 0.584 | 5.8 | 8.0 | 0.981 | 5.5 | 7.9 | 0.667 |
| GT+TT | 19 | 6.0 | 8.0 | 6.5 | 7.8 | 6.5 | 8.0 | ||||
|
| |||||||||||
| rs3020450 | GG | 52 | 6.0 | 7.8 | 0.886 | 5.5 | 7.9 | 0.727 | 6.0 | 7.9 | 0.842 |
| GA+AA | 69 | 5.8 | 8.0 | 6.1 | 8.0 | 5.5 | 8.0 | ||||
|
| |||||||||||
| rs3020449 | TT | 38 | 4.0 | 7.4 | 0.156 | 5.0 | 7.6 | 0.114 | 4.0 | 7.5 | 0.117 |
| TC+CC | 82 | 6.0 | 8.0 | 6.5 | 8.0 | 6.2 | 8.0 | ||||
|
| |||||||||||
| rs10137185 | CC | 106 | 5.5 | 7.8 | 0.080 | 5.5 | 7.8 | 0.149 | 5.0 | 7.9 | 0.065 |
| CT+TT | 15 | 7.0 | 8.0 | 7.6 | 8.0 | 7.4 | 8.0 | ||||
|
| |||||||||||
| rs3020443 | AA | 66 | 5.6 | 7.5 | 0.433 | 5.5 | 7.8 | 0.109 | 5.9 | 7.8 | 0.322 |
| AC+CC | 54 | 6.0 | 8.0 | 6.5 | 8.0 | 6.5 | 8.0 | ||||
|
| |||||||||||
| rs1256120 | TT | 100 | 5.3 | 7.8 | 0.567 | 5.6 | 8.0 | 0.843 | 5.3 | 7.9 | 0.561 |
| TC+CC | 19 | 6.8 | 7.9 | 6.5 | 7.9 | 7.0 | 7.9 | ||||
|
| |||||||||||
| rs10146204 | GG | 42 | 4.0 | 7.0 | 0.051 | 5.0 | 7.5 | 0.025 | 4.0 | 7.5 | 0.029 |
| GA+AA | 79 | 6.0 | 8.0 | 6.5 | 8.0 | 6.2 | 8.0 | ||||
|
| |||||||||||
| rs1256108 | TT | 30 | 3.0 | 7.4 | 0.119 | 5.0 | 7.6 | 0.211 | 3.8 | 7.6 | 0.103 |
| TC+CC | 101 | 6.0 | 8.0 | 6.5 | 8.0 | 6.6 | 8.0 | ||||
Percentile cutpoints distinguish no/low (Allred <6) from intermediate (Allred 6 to 7) and intermediate from maximal (Allred 8) ERβ expression in the entire (n=135) subject set.
ESR2 genotypes evaluable for n=133 subjects at four SNPs (rs8021944, rs1255998, rs8003490, and rs1256108) measured on one Sequenom multiplex and evaluable for n=121 subjects at 18 other SNPs measured on a separated multiplex.
Statistical significance (Wilcoxon test) of genotype-specific differences in the Allred scores.