Table 1.
Associations of CYP19A1 variants and circulating estradiol in postmenopausal women.
| Variant | CYP19A1 location (Chr15 position) | LD with rs727479 | Study | N | Association with circulating estradiol |
|---|---|---|---|---|---|
| rs60271534 (7, 8, 11, and 12 repeats) | Intronic (51502844) | N/A* | Haiman et al., 2000 | 1,236 | No significant associations |
| rs730154 (A/G) | Intronic (51299007) | 0.05 (EUR) | − | − | Not tested |
| rs936308 (C/G) | Intronic (51288877) | 0.05 (EUR) | − | − | Not tested |
| rs749292 (G/A) | Intronic (51266534) | 0.36 (EUR) | Haiman et al., 2007 | 3,391 | Higher estradiol (p = 1.3 × 10−10) in A allele carriers |
| Beckmann et al., 2011 | 2,721 | Higher estradiol (p = 0.014) in A allele carriers | |||
| rs6493494 (G/A) | Intronic (51257638) | 0.34 (EUR) | Haiman et al., 2007 | 3,431 | Higher estradiol (p = 3.0 × 10−8) in A allele carriers |
| Beckmann et al., 2011 | 2,721 | Higher estradiol (p = 0.02) in A allele carriers | |||
| rs1008805 (A/G) | Intronic (51257402) | 0.17 (EUR) | Haiman et al., 2007 | 3,385 | Lower estradiol (p = 4.8 × 10−6) in G allele carriers |
| rs10459592 (G/T) | Intronic (51243944) | 0.68 (EUR) | − | − | Not tested |
| rs4775936 (C/T) | Intronic (51243825) | 0.44 (EUR) | − | − | Not tested |
| rs727479 (A/C) | Intronic (51242350) | 1 | Haiman et al., 2007 | 3,354 | Lower estradiol (p = 6.4 × 10−11) in C allele carriers |
| Beckmann et al., 2011 | 2,721 | Lower estradiol (p = 0.001) in C allele carriers | |||
| Prescott et al., 2012 | 1,583 | Lower estradiol (p = 5.11 × 10−7) in C allele carriers | |||
| Thompson et al., 2016 | 2,767 | Lower estradiol (p = 7.4 × 10−8) in C allele carriers | |||
| rs2414096 (G/A) | Intronic (51237582) | 0.51 (EUR) | Haiman et al., 2007 | 3,386 | Higher estradiol (p = 1.0 × 10−9) in A allele carriers |
| rs700518 (A/G) | Exonic: synonymous (51236915) | 0.51 (EUR) | − | − | Not tested |
| rs11575899 (TCT/−) | Intronic (51227749) | N/A* | Dunning et al., 2004 | 871 | Lower estradiol (p = 0.0003) in deletion allele carriers |
| rs28757184 (C/T; Thr/Met) | Exonic: missense (51222375) | 0.02 (EUR) | − | − | Not tested |
| rs700519 (C/T; Arg/Cys) | Exonic: missense (51215771) | 0.02 (EUR) | − | − | Not tested |
| rs10046 (C/T) | 3′UTR (51210789) | 0.51 (EUR) | Dunning et al., 2004 | 1,747 | Higher estradiol (p = 0.0006) in T allele carriers |
| Haiman et al., 2007 | 3,325 | Higher estradiol (p = 2.9 × 10−9) in T allele carriers | |||
| Beckmann et al., 2011 | 2,721 | Higher estradiol (p = 0.001) in T allele carriers | |||
| rs4646 (C/A) | 3′UTR (51210647) | 0.10 (EUR) | Haiman et al., 2007 | 3,431 | Lower estradiol (p = 1.3 × 10−3) in A allele carriers |
GRCh38.
*
Linkage disequilibrium data from the 1,000 Genomes Project are not available for these variants.