Table 4.
Gene | SNP | Controls (n) | Cases (n) | Allele Frequency | Heterozygous | Homozygous | Recessive model | Armitage's trend test | |||||||||
22b | 21 | 11 | 22 | 21 | 11 | [2]<-> [1]c | P value | [22]<-> [12] | P value | [22]<-> [11] | P value | [11+12]<-> [22] | P value | OR | P value | ||
Sample 1 | |||||||||||||||||
ESR1 | rs2813544 | 10 | 134 | 255 | 33 | 242 | 408 | 0.82 [0.66–1.02] | 0,08 | 0.55 [0.26–1.14] | 0,11 | 0.48 [0.24–1.00] | 0,05 | 0.51 [0.25–1.04] | 0,06 | 0,79 | 0,07 |
Women | 8 | 114 | 213 | 29 | 194 | 339 | 0.83 [0.66–1.06] | 0,13 | 0.47 [0.21–1.06] | 0,06 | 0.44 [0.20–0.98] | 0,04 | 0.45 [0.20–1.00] | 0,04 | 0,79 | 0,13 | |
Men | 2 | 20 | 42 | 4 | 48 | 69 | 0.77 [0.45–1.31] | 0,33 | 1.20 [0.20–7.08] | 0,84 | 0.82 [0.14–4.68] | 0,82 | 0.94 [0.17–5.30] | 0,95 | 0,78 | 0,31 | |
ESR2 | rs7154455 | 107 | 167 | 47 | 273 | 260 | 62 | 0.70 [0.57–0.85] | 0,0003 | 0.61 [0.45–0.82] | 0,001 | 0.52 [0.33–0.80] | 0,003 | 0.59 [0.44–0.78] | 0,0002 | 0,7 | 0,0003 |
Women | 84 | 144 | 43 | 223 | 219 | 45 | 0.63 [0.51–0.78] | 0,00003 | 0.57 [0.41–0.80] | 0,0008 | 0.39 [0.24–0.64] | 0,0001 | 0.53 [0.39–0.73] | 0,00007 | 0,62 | 0,00002 | |
Men | 23 | 23 | 4 | 50 | 41 | 17 | 1.18 [0.71–1.97] | 0,51 | 0.82 [0.40–1.67] | 0,58 | 2.0 [0.59–6.46] | 0,27 | 0.99 [0.50–1.94] | 0,97 | 1,26 | 0,53 | |
rs3020450 | 177 | 163 | 44 | 353 | 237 | 59 | 0.78 [0.64–0.94] | 0,01 | 0.73 [0.56–0.95] | 0,02 | 0.67 [0.44–1.03] | 0,07 | 0.72 [0.56–0.92] | 0,01 | 0,8 | 0,01 | |
Women | 147 | 139 | 41 | 288 | 202 | 42 | 0.72 [0.58–0.89] | 0,002 | 0.74 [0.55–1.00] | 0,05 | 0.52 [0.33–0.84] | 0,007 | 0.69 [0.52–0.91] | 0,009 | 0,73 | 0,003 | |
Men | 30 | 24 | 3 | 65 | 35 | 17 | 1.17 [0.71–1.94] | 0,54 | 0.67 [0.34–1.32] | 0,25 | 2.61 [0.71–9.61] | 0,14 | 0.89 [0.47–1.68] | 0,72 | 1,32 | 0,57 | |
ESR2 | Women | ||||||||||||||||
rs1152582 | 54 | 171 | 110 | 127 | 274 | 161 | 0.80 [0.66–0.98] | 0,03 | 0.68 [0.47–1.00] | 0,04 | 0.62 [0.42–0.93] | 0,01 | 0.66 [0.46–0.94] | 0,02 | 0,8 | 0,03 | |
rs1271572 | 59 | 172 | 104 | 130 | 281 | 151 | 0.82 [0.68–1.00] | 0,05 | 0.74 [0.52–1.06] | 0,1 | 0.66 [0.44–1.00] | 0,04 | 0.71 [0.50–1.00] | 0,05 | 0,82 | 0,04 | |
rs1269056 | 53 | 175 | 107 | 127 | 275 | 158 | 0.81 [0.66–0.98] | 0,03 | 0.66 [0.45–0.95] | 0,03 | 0.62 [0.41–0.92] | 0,02 | 0.64 [0.45–0.91] | 0,01 | 0,8 | 0,03 | |
ESR2 | Men | ||||||||||||||||
rs4986938 | 4 | 30 | 30 | 20 | 59 | 45 | 0.64 [0.40–1.00] | 0,05 | 0.39 [0.12–1.26] | 0,11 | 0.30 [0.09–0.96] | 0,04 | 0.35 [0.11–1.06] | 0,05 | 0,6 | 0,05 | |
Sample 2 | |||||||||||||||||
ESR2 | rs3020450 | 326 | 245 | 41 | 410 | 332 | 60 | 1.08 [0.91–1.27] | 0,39 | 1.08 [0.86–1.34] | 0,51 | 1.16 [0.76–1.78] | 0,48 | 1.09 [0.88–1.34] | 0,42 | 1.08 | 0,38 |
Women | 273 | 216 | 35 | 346 | 282 | 53 | 1.06 [0.89–1.27] | 0,42 | 1.03 [0.81–1.31] | 0,81 | 1.20 [0.76–1.88] | 0,44 | 1.05 [0.84–1.32] | 0,65 | 1.07 | 0,51 | |
Men | 53 | 29 | 6 | 64 | 50 | 7 | 1.18 [0.75–1.86] | 0,46 | 1.42 [0.80–2.56] | 0,23 | 0.97 [0.31–3.05] | 0,95 | 1.35 [0.77–2.35] | 0,29 | 1.11 | 0,46 | |
rs7154455 | 318 | 248 | 46 | 399 | 341 | 63 | 1.06 [0.90–1.26] | 0,45 | 1.10 [0.88–1.37] | 0,42 | 1.09 [0.73–1.64] | 0,67 | 1.09 [0.89–1.35] | 0,40 | 1.06 | 0,44 | |
Women | 268 | 216 | 40 | 337 | 287 | 57 | 1.06 [0.89–1.27] | 0,52 | 1.06 [0.83–1.34] | 0,65 | 1.13 [0.73–1.75] | 0,57 | 1.07 [0.85–1.34] | 0,57 | 1.06 | 0,52 | |
Men | 50 | 32 | 6 | 62 | 54 | 6 | 1.11 [0.71–1.73] | 0,64 | 1.36 [0.77–2.42] | 0,29 | 0.81 [0.24–2.65] | 0,72 | 1.27 [0.73–2.21] | 0,74 | 1.05 | 0,63 |
a) Shown are SNPs with P value < 0.05 in at least one analysis.
b) 1 and 2 represent the two alleles of each SNP.
c) OR (95% confidence interval)