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. 2010 Dec 22;96(2):E360–E367. doi: 10.1210/jc.2010-0912

Table 2.

Results for the significant associations of hormone levels with the SNPs in the sex steroid pathway

Hormone/menopausal status Gene SNP Major/minor allele Locationa MAF Heterozygote
 Homozygote minor allele
 Test for association with hormone levels
Estimate sd % differenceb P valuec R2 (%)d P values for the four models
 Globale Model for minimum P value
Estimate sd % differenceb P valuec Trend Additive Dominant Recessive
Pre- and postmenopausal
    SHBG SHBG rs1619016 T/C Intergenic 0.12 −0.09 0.02 −8.6 0 −0.30 0.06 −26.1 0 1.0 <10−6 0.008370 <10−6 0.000005 <0.036 Trend
        n = 3796 rs2955617 A/C Intergenic 0.32 −0.09 0.02 −8.8 0 −0.21 0.03 −19 0 1.8 <10−6 0.000256 <10−6 <10−6 <0.036 Trend
        R2 covariatesf: 0.283 rs9898876 G/T Intergenic 0.18 −0.06 0.02 −6 0.001 −0.08 0.04 −7.4 0.067 0.3 0.000284 0.197217 0.000201 0.154507 <0.036 Trend
rs9913778 C/T Intron 0.07 −0.19 0.02 −16.9 0 −0.24 0.13 −21.6 0.053 1.6 <10−6 0.000564 <10−6 0.086601 <0.036 Dominant
    DHEAS
        n = 3547 FSHR rs12713034 A/G Intron 0.45 −0.02 0.02 −2.3 0.308 −0.11 0.03 −10.1 0 0.4 0.000567 0.085368 0.034019 0.000297 <0.036 Recessive
        R2 covariatesf: 0.165 rs1290100 G/C Intron 0.34 0.08 0.02 7.9 0 0.07 0.03 7.1 0.037 0.4 0.002194 0.100555 0.000308 0.393179 <0.036 Trend
0.0
AKR1C3 rs10752001 T/C Intergenic 0.16 0.08 0.02 7.7 0.001 0.09 0.07 8.9 0.213 0.3 0.001015 0.135326 0.000741 0.339883 <0.036 Dominant
Postmenopausal
    E1
        n = 2433 CYP19 rs10046 G/A Exon 0.52 0.05 0.02 5.2 0.005 0.11 0.02 11.1 0 1.2 <10−6 0.221788 0.000091 0.000021 <0.036 Trend
        R2 covariatesf: 0.427 rs4646 C/A Exon 0.26 −0.04 0.02 −3.8 0.008 −0.08 0.03 −7.7 0.005 0.5 0.000557 0.496994 0.001543 0.023862 <0.036 Trend
rs6493494 G/A Intron 0.42 0.04 0.02 4.5 0.006 0.10 0.02 10.9 0 0.9 0.000002 0.262544 0.000150 0.000092 <0.036 Trend
rs727479 A/C Intron 0.35 −0.04 0.02 −3.9 0.008 −0.12 0.02 −10.9 0 1.0 0.000001 0.232941 0.000137 0.000022 <0.036 Trend
rs749292 G/A Intron 0.43 0.06 0.02 5.8 0 0.11 0.02 11.3 0 1.1 <10−6 0.212815 0.000008 0.000172 <0.036 Trend
ESR1 rs1884053 T/C Intron 0.36 −0.06 0.02 −5.4 0 −0.03 0.02 −2.5 0.265 0.5 0.019190 0.454434 0.000696 0.827124 <0.036 Dominant
rs2347871 A/G Intron 0.35 −0.06 0.02 −5.3 0 −0.02 0.02 −2.4 0.29 0.5 0.019456 0.462545 0.000791 0.821801 <0.036 Dominant
rs9341016 T/C Intron 0.06 0.00 0.02 0 0.986 0.42 0.12 52.4 0 0.5 0.217255 0.461703 0.539285 0.000284 <0.036 Recessive
FSHR rs10495968 C/T Intron 0.28 −0.05 0.02 −4.7 0.001 −0.06 0.03 −5.5 0.037 0.5 0.000902 0.486873 0.000485 0.177197 <0.036 Dominant
rs11125215 G/A Intron 0.23 −0.05 0.02 −4.8 0.001 −0.08 0.03 −7.8 0.012 0.6 0.000160 0.429278 0.000243 0.048757 <0.036 Trend
rs1157876 C/T Intron 0.26 −0.05 0.02 −5.2 0 −0.05 0.03 −4.7 0.092 0.6 0.000927 0.451640 0.000236 0.356689 <0.036 Dominant
rs1394205 C/T Exon 0.28 −0.05 0.02 −5 0.001 −0.06 0.03 −5.7 0.031 0.6 0.000485 0.446552 0.000217 0.178605 <0.036 Dominant
rs4331540 C/T Intron 0.28 −0.05 0.02 −5.2 0 −0.06 0.03 −5.7 0.03 0.6 0.000328 0.421135 0.000125 0.178605 <0.036 Dominant
rs4971637 G/T Intron 0.22 −0.04 0.02 −3.4 0.019 −0.10 0.04 −9.6 0.005 0.5 0.000810 0.502395 0.003579 0.012714 <0.036 Trend
rs4971665 A/G Intron 0.29 −0.05 0.02 −4.5 0.002 −0.07 0.03 −6.7 0.005 0.6 0.000307 0.454324 0.000387 0.038361 <0.036 Trend
rs4971884 G/A Intron 0.24 −0.04 0.02 −4.3 0.003 −0.08 0.03 −7.9 0.01 0.5 0.000332 0.469314 0.000698 0.038213 <0.036 Trend
rs7606570 T/G Intron 0.24 −0.05 0.02 −4.4 0.003 −0.08 0.03 −7.3 0.017 0.5 0.000414 0.477461 0.000621 0.062633 <0.036 Trend
    E2
        n = 2721 CYP19 rs10046 G/A Exon 0.53 0.06 0.02 6.6 0.001 0.12 0.02 13.2 0 1.1 <10−6 0.099518 0.000010 0.000010 <0.036 Trend
        R2 covariatesf: 0.733 rs6493494 G/A Intron 0.42 0.04 0.02 4.1 0.02 0.12 0.02 13.1 0 1.0 0.000001 0.126579 0.000342 0.000004 <0.036 Trend
rs727479 A/C Intron 0.34 −0.05 0.02 −5.3 0.001 −0.12 0.03 −11.4 0 0.9 <10−6 0.139278 0.000015 0.000127 <0.036 Trend
rs749292 G/A Intron 0.43 0.04 0.02 4.3 0.014 0.13 0.02 14.4 0 1.2 <10−6 0.077097 0.000108 <10−6 <0.036 Trend
FSHR rs10454135 A/G Intergenic 0.42 −0.05 0.02 −5.2 0.002 −0.06 0.02 −5.7 0.01 0.4 0.002522 0.407723 0.000671 0.194884 <0.036 Dominant

MAF, Minor allele frequency.

a

Derived from dbSNP.

b

Evaluated as the exp(b), where b is the estimate from the linear regression of the residuals on the SNPs under a codominant model.

c

P values from linear regression of the residuals on the SNP under a codominant model.

d

R2 from linear regression of the residuals on the SNPs under a codominant model.

e

Global P value limited by 1000 permutations.

f

R2 from linear regression of the residuals on breast cancer case-control status, BMI, menopausal status (for pre- and postmenopausal women pooled), assay batch, and age at blood donation.