Background
Methods
Study design
Genotyping
Statistical analysis
Results
Variable | Control (n = 94) | PCOS patients (n = 95) | p-value |
---|---|---|---|
Age (years) | 21.0 ± 3 | 22.0 ± 9.0 | 0.015* |
BMI (kg/m2) | 22.7 ± 5.9 | 24.56 ± 7.34 | 0.003** |
LH (IU/ml) | 5.7 ± 5.7 | 9.0 ± 8.7 | 0.001** |
FSH (IU/ml) | 4.6 ± 2.6 | 4.8 ± 2.4 | 0.339 |
LH/FSH ratio | 1.2 ± 1.5 | 1.9 ± 1.6 | 0.001** |
AMH (ng/ml) | 2.3 ± 1.4 | 4.8 ± 4.76 | < 0.0001*** |
Allele and genotype frequency
SNP | rs12970134 | p-value | rs17782313 | p-value | ||||
---|---|---|---|---|---|---|---|---|
Genotype frequency | AA | AG | GG | CC | CT | TT | ||
Patient (n = 95) | 6 (6.3%) | 38 (40.0%) | 51 (53.7%) |
0.86
| 7 (7.4%) | 39 (40.1%) | 49 (51.6%) |
0.44
|
Control (n = 94) | 5 (5.3%) | 35 (37.2%) | 54 (57.4%) | 4 (4.3%) | 34 (36.2%) | 56 (59.6%) | ||
Total = 189 | 11 (5.8%) | 73 (55.6%) | 105 (38.6%) | 11 (5.8%) | 73 (55.6%) | 105 (38.6%) | ||
Allele frequency | A | G | C | T | ||||
PCOS (n = 95) | 50 (26.3%) | 140 (73.7%) | 53 (27.9%) | 137 (72.1%) | ||||
Control (n = 94) | 45 (23.9%) | 143 (76.1%) | 42 (22.3%) | 146 (77.7%) |
The association of MC4R variants rs12970134 and rs17782313 with PCOS
rs12970134 | ||||||||
Variables | Patient (n = 95) | p-value | Control (n = 94) | p-value | ||||
A/A | A/G | G/G | A/A | A/G | G/G | |||
BMI (kg/m2) | 33.5 ± 9.4 | 24.5 ± 6.8 | 23.5 ± 6.6 | 0.003** | 23.2 ± 13.8 | 21.1 ± 5.5 | 23.1 ± 7.3 | 0.941 |
AMH (ng/ml) | 5.6 ± 5.6 | 4.9 ± 5.5 | 4.7 ± 4.4 | 0.953 | 2.2 ± 0.0 | 2.3 ± 1.9 | 2.3 ± 1.4 | 0.482 |
LH (IU/ml) | 9.4 ± 3.4 | 8.8 ± 8.9 | 8.3 ± 9.6 | 0.941 | 3.4 ± 5.7 | 6.6 ± 6.2 | 5.6 ± 5.3 | 0.224 |
FSH (IU/ml) | 4.6 ± 2.7 | 5.3 ± 2.9 | 4.7 ± 2.2 | 0.300 | 3.3 ± 4.3 | 4.6 ± 2.5 | 4.9 ± 2.6 | 0.502 |
LH/FSH ratio | 2.1 ± 1.3 | 2.0 ± 1.6 | 1.7 ± 1.7 | 0.926 | 0.8 ± 1.1 | 1.7 ± 1.4 | 1.2 ± 1.3 | 0.325 |
rs17782313 | ||||||||
Variables | Patient (n = 95) | p-value | Control (n = 94) | p-value | ||||
C/C | C/T | T/T | C/C | C/T | T/T | |||
BMI (kg/m2) | 34.9 ± 6.0 | 24.1 ± 5.6 | 23.5 ± 7.1 | 0.001*** | 23.6 ± 17.3 | 21.4 ± 7.0 | 23 ± 5.8 | 0.794 |
AMH (ng/ml) | 4.3 ± 5.0 | 4.9 ± 5.5 | 4.7 ± 4.5 | 0.982 | 2.3 ± 0.0 | 2.3 ± 1.9 | 2.3 ± 1.6 | 0.881 |
LH (IU/ml) | 9.3 ± 6.1 | 8.8 ± 9.2 | 8.4 ± 9.6 | 0.975 | 4.4 ± 5.9 | 6.1 ± 6.4 | 5.6 ± 5.7 | 0.573 |
FSH (IU/ml) | 4.6 ± 2.4 | 5.2 ± 2.7 | 4.8 ± 2.3 | 0.690 | 3.8 ± 4.8 | 4.5 ± 2.8 | 4.9 ± 2.3 | 0.573 |
LH/FSH ratio | 1.8 ± 1.6 | 2.2 ± 1.8 | 1.7 ± 1.6 | 0.998 | 1.0 ± 1.3 | 1.7 ± 1.4 | 1.1 ± 1.4 | 0.367 |
SNP | Variable | Group | Genotype | B | p-value | OR (95% CI) |
---|---|---|---|---|---|---|
rs12970134 a | BMI (kg/m2) | Control (n = 94) | A/G | −0.003 | 0.935 | 0.997 (0.921–1.078) |
A/A | 0.052 | 0.48 | 1.053 (0.912–1.216) | |||
Patient (n = 95) | A/G | 0.027 | 0.553 | 1.027 (0.94–1.122) | ||
A/A | 0.298 | 0.002** | 1.348 (1.113–1.631) | |||
rs17782313 b | BMI (kg/m2) | Control (n = 94) | C/T | 0.035 | 0.935 | 1.035 (0.957–1.12) |
C/C | 0.102 | 0.48 | 1.108 (0.953–1.287) | |||
Patient (n = 95) | C/T | −0.008 | 0.553 | 0.992 (0.906–1.086) | ||
C/C | 0.311 | 0.002** | 1.364 (1.121–1.661) |
SNP | Variable | Genotype | B | p-value | OR (95% CI) |
---|---|---|---|---|---|
rs12970134 | hirsutism | A/A | 22.119 | 0.999 | |
A/G | 1.713 | 0.014* | 5.547 (1.424–21.612) | ||
G/G | 3.883 | < 0.0001*** | 48.583 (6.185–381.647) | ||
loss of hair | A/A | 2.773 | 0.08 | 16 (0.722–354.803) | |
A/G | 1.787 | 0.001** | 5.971 (2.013–17.705) | ||
G/G | 1.13 | 0.014** | 3.096 (1.255–7.641) | ||
HA | A/A | 1.792 | 0.214 | 6.000 (0.354–101.568) | |
A/G | 1.727 | .001** | 5.625 (2.004–15.792) | ||
G/G | 1.438 | .001** | 4.211 (1.817–9.758) | ||
AMH (ng/ml) | A/A | 101.39 | 0.993 | ||
A/G | 0.599 | 0.004** | 1.821 (1.215–2.730) | ||
G/G | 0.526 | < 0.0001*** | 1.693 (1.285–2.231) | ||
rs17782313 | hirsutism | C/C | 21.896 | 0.999 | |
C/T | 2.119 | 0.008** | 8.32 (1.717–40.311) | ||
T/T | 3.162 | < 0.0001*** | 23.625 (5.126–108.889) | ||
loss of hair | C/C | 2.708 | 0.089 | 15 (0.663–339.548) | |
C/T | 1.646 | 0.003** | 5.185 (1.747–15.386) | ||
T/T | 1.212 | 0.009** | 3.362 (1.361–8.303) | ||
HA | C/C | 1.609 | 0.278 | 5.000 (0.273–91.518) | |
C/T | 1.776 | .001** | 5.907 (2.116–16.492) | ||
T/T | 1.412 | .001** | 4.103 (1.768–9.518) | ||
AMH (ng/ml) | C/C | 101.26 | 0.993 | ||
C/T | 0.598 | 0.003** | 1.818 (1.227–2.694) | ||
T/T | 0.536 | < 0.0001*** | 1.71 (1.293–2.261) |