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| Table 1: Prevalence of c. 454-397T>C variant
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TT
N (%) |
TC
N (%) |
CC
N (%) |
T allele frequency (%) |
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US men and women (offspring cohort of Framingham Heart Study); mean age 60 |
Caucasian |
1561 |
475 (30) |
776 (50) |
310 (20) |
55 |
Shearman et al. |
US postmenopausal women (Estrogen Replacement and Atherosclerosis Study) |
Caucasian |
309 |
*89 (28.8) |
*162 (52.3) |
*58 (18.9) |
54.8 |
Herrington et al. |
US postmenopausal women (mid-western) |
Caucasian |
108 |
28 (*26) |
54 (*50) |
26 (*24) |
51 |
Deng et al. |
US women (Michigan Bone Health Study); age 24-44 |
Caucasian |
442 |
*84 (19) |
*234 (53) |
*124 (28) |
*45 |
Sowers et al. |
Japanese men (age 36-59) and postmenopausal women without cardiac history and unrelated to other participants |
Japanese |
94 |
34 (36.2) |
46 (48.9) |
14 (14.9) |
60.6 |
Matsubara et al. |
* calculated by reviewer
Note: The numbers reported by Sowers et al. may have interchanged the values for TT and CC, thus yielding a lower T allele frequency than is shown by others for a similar control cohort.
[back to abstract]
Table 2: Prevalence of c. 454-351A>G variant
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AA
N (%) |
AG
N (%) |
GG N (%) |
A allele frequency (%) |
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US men and women (offspring cohort of Framingham Heart Study); mean age 60 |
Caucasian |
1559 |
645 (40) |
712 (48) |
199 (16) |
60 |
Shearman et al. |
US postmenopausal women (Estrogen Replacement and Atherosclerosis Study) |
Caucasian |
309 |
*127 (41.1) |
*154 (49.7) |
*29 (9.3) |
65.7 |
Herrington et al. |
US women (Michigan Bone Health Study); age 24-44 |
Caucasian |
442 |
*177 (40) |
*221 (50) |
*44 (10) |
*65 |
Sowers et al. |
Japanese men (age 36-59) and postmenopausal women without cardiac history and unrelated to other participants |
Japanese |
89 |
60 (67.4) |
25 (28.1) |
4 (4.5) |
81.5 |
Matsubara et al. |
* calculated by reviewer
[back to abstract]
Table 3: Prevalence c. 30T>C variant
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TT
N (%) |
TC
N (%) |
CC N (%) |
T allele frequency (%) |
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US men and women (offspring cohort of Framingham Heart Study); mean age 60 |
Caucasian |
1559 |
645 (40) |
712 (48) |
199 (16) |
60 |
Shearman et al. |
US postmenopausal women (Estrogen Replacement and Atherosclerosis Study) |
Caucasian |
309 |
*127 (41.1) |
*154 (49.7) |
*29 (9.3) |
65.7 |
Herrington et al. |
* calculated by reviewer
[back to abstract]
Table 4: c.975C>G variant
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CC
N (%) |
CG
N (%) |
GG N (%) |
C allele frequency (%) |
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US men and women (offspring cohort of Framingham Heart Study); mean age 60 |
Caucasian |
1464 |
859 (58) |
518 (35) |
87 (5) |
76 |
Shearman et al. |
US postmenopausal women (Estrogen Replacement and Atherosclerosis Study) |
Caucasian |
309 |
*170 (55.1) |
*116 (37.5) |
*37 (7.3) |
73.9 |
Herrington et al. |
[back to abstract]
Table 5: Deviations of ESR1 genotype frequencies from HWE (adapted from Shearman et al., Table 3)
c.454-397T>C |
TT
Obs(%):
*(Exp(%) |
TC
Obs(%):
*Exp(%) |
CC
Obs(%):
*Exp(%) |
T allele frequency (%) |
|
All M and F studied (N=1739) |
525 (30)
526 (30) |
862 (50)
860 (50) |
352 (20)
352 (20) |
55 |
0.96 |
Total CVD
(N=178) |
50 (28)
48 (27) |
86 (48)
89 (50) |
42 (24)
41 (23) |
52 |
0.67 |
Major CVD
(N=84) |
34 (28)
19 (23) |
24 (41)
42 (50) |
26 (31)
23 (27) |
48 |
0.10 |
Acute MI
(N=59) |
16 (27)
12 (20) |
21 (36)
29 (50) |
22 (37)
18 (30) |
45 |
0.03 |
c. 975C>G |
CC
Obs(%):
*(Exp(%) |
CG
Obs(%):
*Exp(%) |
GG
Obs(%):
*Exp(%) |
C allele frequency (%) |
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All M and F studied (N=1638) |
975 (60)
971 (59) |
562 (34)
580 (35) |
101 (6)
87 (5) |
77 |
0.10 |
Total CVD
(N=174) |
116 (67)
109 (62) |
44 (25)
58 (33) |
14 (8)
8 (5) |
79 |
0.002 |
Major CVD
(N=82) |
55 (67)
55 (67) |
24 (29)
24 (29) |
3 (4)
3 (4) |
82 |
0.85 |
Acute MI
(N=59) |
39 (66)
39 (66) |
18 (31)
18 (31) |
2 (3)
2 (3) |
81 |
0.97 |
[back to abstract]
Table 6: ORs for CVD in relation to c.454-397 T>C genotype
c.454-397 TC |
86 |
776 |
1.0 (0.7-1.4) |
c.454-397 CC |
42 |
310 |
1.3 (0.9-1.8) |
Genotype |
Case= Major CVD |
Control |
Crude OR (95% CI) |
c.454-397 TT |
34 |
475 |
Ref. |
c.454-397 TC |
24 |
776 |
0.4 (0.13-1.2) |
c.454-397 CC |
26 |
310 |
1.2 (0.39-3.7) |
Genotype |
Case= acute MI |
Control |
Crude OR (95% CI) |
c.454-397 TT |
16 |
475 |
Ref. |
c.454-397 TC |
21 |
776 |
0.8 (0.4-1.5) |
c.454-397 CC |
22 |
310 |
2.1 (1.1-4.0) |
[back to abstract]
Table 7: Attributable Fractions of CVD and absolute risk of MI in relation to c.454-397 CC genotype
Total |
1.3 |
0.24 |
0.06 |
- |
Major |
1.2 |
0.31 |
0.05 |
- |
Acute MI |
2.1 |
0.37 |
0.2 |
- |
[back to abstract]
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