Background
Methods
Participants
TagSNP selection
Genotyping
Statistical analyses
Results
Characteristics of the study participants
Characteristics | Average | 95% CI |
---|---|---|
Age (years)
| 60.88 ± 8.72 | 60.30-61.47 |
Age at menarche (years)
| 14.97 ± 2.00 | 14.83-15.10 |
Age at menopause (years)
| 48.77 ± 4.16 | 48.49-49.05 |
Height (cm)
| 154.18 ± 5.97 | 153.78-154.58 |
Weight (kg)
| 58.21 ± 8.73 | 57.62-58.80 |
BMI (kg/m
2
)
| 24.46 ± 3.20 | 24.25-24.68 |
Number of deliveries
| 2.14 ± 1.32 | 2.05-2.23 |
Number of spontaneous abortions
| 0.13 ± 0.44 | 0.10-0.16 |
Number of induced abortions
| 1.21 ± 1.27 | 1.13-1.30 |
SNP genotyping and linkage disequilibrium
Gene | SNP | Allele | Function | HWE | MAF | AAM | AANM | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Beta |
P
| P-Bonf | Beta |
P
| P-Bonf | ||||||
TNFRSF11B
|
rs1485286
|
C/T
|
Intron
| 0.4237 | T = 0.406 | 0.0697 | 0.49 | 1.00 | 0.2428 | 0.25 | 1.00 |
TNFRSF11B
|
rs11573869
|
A/G
|
Intron
| 0.8783 | G = 0.165 | −0.0529 | 0.69 | 1.00 | 0.1109 | 0.68 | 1.00 |
TNFRSF11B
|
rs3102728
|
T/C
|
Intron
| 0.2913 | C = 0.138 | 0.0726 | 0.61 | 1.00 | −0.2352 | 0.43 | 1.00 |
TNFRSF11B
|
rs11573819
|
G/A
|
Intron
| 0.9402 | A = 0.157 | 0.0501 | 0.71 | 1.00 | −0.1709 | 0.54 | 1.00 |
TNFRSF11B
|
rs2073618
|
C/G
|
Asn by Lys
| 0.5148 | G = 0.258 | −0.0065 | 0.95 | 1.00 | 0.2687 | 0.25 | 1.00 |
TNFRSF11B
|
rs2073617
|
A/G
|
UTR-5
| 0.7887 | G = 0.382 | −0.1137 | 0.26 | 1.00 | 0.1741 | 0.41 | 1.00 |
TNFSF11
|
rs9525641
|
T/C
|
Intron
| 0.1546 | C = 0.472 | 0.0810 | 0.42 | 1.00 | −0.0656 | 0.75 | 1.00 |
TNFSF11
|
rs2277439
|
A/G
|
Intron
| 0.5905 | G = 0.295 | −0.0611 | 0.56 | 1.00 | 0.2430 | 0.27 | 1.00 |
TNFSF11
|
rs2324851
|
G/A
|
Intron
| 0.6728 | A = 0.294 | −0.0699 | 0.51 | 1.00 | 0.2351 | 0.29 | 1.00 |
TNFSF11
|
rs2875459
|
C/T
|
Intron
| 0.8542 | T = 0.220 | −0.1036 | 0.38 | 1.00 | −0.0189 | 0.94 | 1.00 |
TNFSF11
|
rs2200287
|
G/A
|
Intron
| 0.8891 | A = 0.220 | −0.0898 | 0.44 | 1.00 | −0.0215 | 0.94 | 1.00 |
TNFSF11
|
rs9533166
|
T/C
|
Intron
| 0.5125 | C = 0.131 | −0.1694 | 0.23 | 1.00 | −0.2154 | 0.47 | 1.00 |
TNFRSF11A
|
rs9962159
|
A/G
|
Intron
| 0.4172 | G = 0.435 | 0.1338 | 0.17 | 1.00 | −0.4434 | 0.03 | 0.57 |
TNFRSF11A
|
rs4603673
|
C/G
|
Intron
| 0.7190 | G = 0.162 | −0.1363 | 0.31 | 1.00 | −0.2551 | 0.36 | 1.00 |
TNFRSF11A
|
rs7239261
|
C/A
|
Intron
| 0.2342 | A = 0.239 | −0.1656 | 0.14 | 1.00 | 0.3123 | 0.18 | 1.00 |
TNFRSF11A
|
rs4500848
|
C/T
|
Intron
| 0.7267 | T = 0.262 | −0.3395 | <0.01 | 0.04 | −0.0378 | 0.87 | 1.00 |
TNFRSF11A
|
rs6567270
|
T/A
|
Intron
| 0.1116 | A = 0.408 | 0.2265 | 0.02 | 0.39 | 0.1197 | 0.55 | 1.00 |
TNFRSF11A
|
rs1805034
|
T/C
|
Ala by Val
| 0.3758 | C = 0.288 | −0.2790 | 0.01 | 0.22 | 0.0069 | 0.98 | 1.00 |
TNFRSF11A
|
rs4303637
|
C/T
|
Intron
| 0.9818 | C = 0.471 | 0.1618 | 0.10 | 1.00 | 0.0701 | 0.73 | 1.00 |
TNFRSF11A
|
rs4941131
|
T/C
|
Intron
| 0.8166 | C = 0.330 | 0.0437 | 0.67 | 1.00 | −0.1892 | 0.38 | 1.00 |
TNFRSF11A
|
rs9646629
|
G/C
|
Intron
| 0.2416 | C = 0.460 | 0.1461 | 0.14 | 1.00 | −0.2256 | 0.28 | 1.00 |
Association analyses of the SNP and haplotypes with AAM and AANM
Genotype | n | AAM | Genotype | n | AAM |
---|---|---|---|---|---|
rs4500848
|
rs1805034
| ||||
C/C
| 471 | 15.16 ± 1.95 |
C/C
| 64 | 14.53 ± 2.17 |
C/T
| 313 | 14.76 ± 2.07 |
C/T
| 358 | 14.86 ± 2.04 |
T/T
| 61 | 14.57 ± 1.85 |
T/T
| 423 | 15.12 ± 1.93 |
P-value
| <0.01 |
P-value
| 0.04 | ||
Genotype
|
n
|
AAM
|
Genotype
|
n
|
AANM
|
rs6567270
|
rs9962159
| ||||
A/A
| 152 | 15.35 ± 2.07 |
G/G
| 166 | 48.45 ± 4.18 |
A/T
| 385 | 14.92 ± 2.02 |
G/A
| 403 | 48.56 ± 4.23 |
T/T
| 308 | 14.84 ± 1.91 |
A/A
| 276 | 49.26 ± 4.00 |
P-value
| 0.03 |
P-value
| 0.05 |
Gene | Haplotype | Frequency | AAM | AANM | ||
---|---|---|---|---|---|---|
Beta |
P
| Beta |
P
| |||
TNFSF11: rs9525641-rs2277439-rs2324851-rs2875459-rs2200287-rs9533166 | ||||||
TAGTAC
| 0.131 | −0.1686 | 0.24 | −0.2171 | 0.46 | |
TAGTAT
| 0.088 | 0.0148 | 0.93 | 0.2392 | 0.50 | |
TGACGT
| 0.292 | −0.0737 | 0.49 | 0.1958 | 0.38 | |
CAGCGT
| 0.469 | 0.0773 | 0.44 | −0.1007 | 0.63 | |
TAGCGT
| 0.017 | 0.7854 | 0.06 | −1.3300 | 0.09 | |
TNFRSF11A: rs9962159-rs4603673 | ||||||
AG
| 0.161 | −0.1455 | 0.28 | −0.2432 | 0.38 | |
GC
| 0.434 | 0.1294 | 0.18 | −0.4383 | 0.03 | |
AC
| 0.405 | −0.0578 | 0.55 | 0.5747 | <0.01 | |
TNFRSF11A : rs6567270-rs1805034 | ||||||
TC
| 0.288 | −0.2787 | 0.01 | 0.0069 | 0.98 | |
AT
| 0.408 | 0.2263 | 0.02 | 0.1197 | 0.55 | |
TT
| 0.305 | −0.0113 | 0.91 | −0.1408 | 0.51 | |
TNFRSF11B : rs1485286-rs11573869-rs3102728-rs11573819-rs2073618 | ||||||
TATGG
| 0.250 | 0.0311 | 0.78 | 0.2791 | 0.24 | |
CATAC
| 0.155 | 0.0770 | 0.57 | −0.1808 | 0.52 | |
CACGC
| 0.139 | 0.0726 | 0.61 | −0.2352 | 0.43 | |
CGTGC
| 0.164 | −0.0407 | 0.76 | 0.1067 | 0.70 | |
TATGC
| 0.154 | 0.0955 | 0.48 | 0.0410 | 0.88 | |
CATGC
| 0.130 | −0.2041 | 0.17 | −0.1828 | 0.56 |