Clinical and metabolic characteristics
As shown in Table 1, the average age of 285 PCOS patient was 27.14 years (27.29 ± 3.78) and the mean BMI was 25.33kg/m2 (25.3 ± 4.60). The mean FBG and the 2-h glucose were 5.59 mmol/L (5.59 ± 1.11) and 6.85mmol/L (6.85 ± 2.73), respectively. The mean FINS and the 2-h INS were respectively 14.49mIU/L (14.49 ± 8.90) and 75.37mIU/L (75.37 ± 67.25). The HOMA-IR was 2.81(2.81 ± 2.68).
The categorizing conditions of PCOS patients by BMI were shown in Table 2. We found significant differences in WC, HC, SBP, DBP, FINS, 2-h INS (P < 0.0001), F-G score, LDL cholesterol, HDL cholesterol, TG, LH, HOMA and SHBG (P < 0.05) between group A (PCOS patients of BMI ≥ 25Kg/m2) and group B (PCOS patients of BMI < 25Kg/m2).
The clinical and metabolic characteristics of PCOS’s parents were shown in Table 3. WC, HC, SBP, DBP, FINS, LDL, TG, HOMA were significant different Both in group C and D, E and F (P < 0.05).
Table 1. Clinical and metabolic characteristic of 285 PCOS Patients
Age(years) 27.29 3.78
BMI(kg/m2) 25.33 4.60
WC(cm) 86.79 12.49
HC(cm) 98.71 10.69
SBP(mmHg) 120.42 15.48
DBP(mmHg) 79.62 11.85
F-G score 2.18 2.18
FBG(mmol/L) 5.59 1.11
2-h glucose(mmol/L) 6.85 2.73
FINS(mIU/L) 14.49 8.90
2-h insulin(mIU/L) 75.37 67.25
TC(mmol/L) 4.74 0.96
LDL cholesterol(mmol/L) 3.07 0.97
HDL cholesterol(mmol/L) 1.32 0.41
TG(mmol/L) 1.44 1.08
FSH(IU/L) 5.93 1.57
LH (IU/L) 11.20 6.18
PRL (ng/mL) 21.12 24.35
TSH (IU/L) 2.91 1.67
Oestroen (pg/mL) 52.95 40.36
TT(ng/mL) 56.82 30.48
DHEAS(mg/dL) 259.05 97.71
HOMA 2.81 2.68
INS-B (pg/mL) 57.01 28.96
AMH (ng/mL) 6.87 4.39
SHBG (nmol/L) 43.66 30.63
BMI=Body mass index; WC=Waist circumference; HC=Hip circumference; SBP=Systolic blood pressure; DBP=Diastolic blood pressure; F-G score=Ferriman-Gallwey score ; FBG=Fasting blood glucose; FINS=Fasting insulin; TC=Total cholesterol; LDL=low-density lipoprotein; HDL=high-densitylipoprotein; TG=Triglycerides; FSH=Follicle-stimulating hormone; LH=luteinizing hormone; PRL=prolactin;TSH=Thyroid-stimulating hormone; DHEAS=Dehydroepiandrosteronesulphate; TT=Total testosterone; HOMA-IR=homeostasis-model assessment insulin resistance index; INS-B=inhibin B ; AMH=anti-mullerian hormone; SHBG=sex hormone binding globulin.
Table 2. Comparison of Clinical and metabolic features of between obese and nonobese PCOS
Characteristic Group A Group B P-value
Age(years) 27.51±4.52 26.93±3.64 0.2380
WC(cm) 96.34 ±9.57 78.29 ±7.76 <0.0001
HC(cm) 106.2 ±9.58 92.11 ±6.37 <0.0001
SBP(mmHg) 125.8 ±16.79 115.5 ±12.33 <0.0001
DBP(mmHg) 84.2 ±11.44 75.4 ±10.69 <0.0001
F-G score 1.93 ±1.88 2.38 ±2.42 0.002
FBG(mmol/L) 5.63 ±1.29 5.53 ±0.97 0.4740
2-h glucose(mmol/L) 7.18 ±2.78 6.48 ±2.69 0.0678
FINS(mIU/L) 18.91 ±9.80 10.24±5.11 <0.0001
2-h insulin(mIU/L) 101.2±73.03 51.59 ±51.03 <0.0001
TC(mmol/L) 4.81 ±0.90 4.66±1.02 0.2359
LDL cholesterol(mmol/L) 3.23 ±1.01 2.94±0.91 0.0193
HDL cholesterol(mmol/L) 1.22 ±0.29 1.39±0.49 0.0005
TG(mmol/L) 1.86 ±1.31 1.03±0.55 <0.0001
FSH(IU/L) 5.80 ±1.55 6.08 ±1.59 0.1934
LH (IU/L) 9.86±4.93 12.47±6.98 0.0016
PRL(ng/mL) 19.69 ±22.68 22.56±26.15 0.3984
TSH(IU/L) 3.11±1.94 2.72 ±1.35 0.0945
Oestroen (pg/mL) 49.32 ±41.66 55.98±39.91 0.2452
Total testosterone(ng/mL) 58.99 ±26.89 54.798±33.57 0.2754
DHEAS(mg/dl) 260.9 ±108.0 257.8 ±87.76 0.8268
HOMA 4.88 ±2.77 2.54±1.42 <0.0001
SHBG(nmol/L) 28.240±17.36 72.22±46.08 <0.0001
Note: Group A: PCOS patients of body mass index(BMI)≥25Kg/m2; Group B: PCOS patients of body mass index(BMI)<25Kg/m2. BMI= Body mass index; WC=Waist circumference; HC=Hip circumference; SBP=Systolic blood pressure; DBP=Diastolic blood pressure; F-G score= Ferriman-Gallwey score ; FBG=Fasting blood glucose; FINS=Fasting insulin; TC=Total cholesterol; LDL=low-density lipoprotein; HDL=high-densitylipoprotein; TG=Triglycerides; FSH=Follicle-stimulating hormone ;LH=luteinizing hormone; PRL=prolactin; TSH= Thyroid-stimulating hormone; TT=Total testosterone; DHEAS= Dehydroepiandrosterone-sulphate; HOMA-IR=homeostasis-model assessment insulin resistance index; INS-B=inhibin B ; AMH=anti-mullerian hormone;SHBG=sex hormone binding globulin.
Table 3 Comparison of Clinical and metabolic features of between obese and lean PCOS’parents
Characteristic Group C Group D P-value Group E Group F P-value
Age(years) 52.89 ± 5.18 54.99±6.38 0.0032 52.67 ± 5.04 53.63±5.71 0.1375
WC (cm) 96.76 ±8.45 84.60 ±8.59 0.0001 92.71±8.68 81.12±7.65 0.0001
HC(cm) 104.0±6.78 95.24±7.87 0.0001 104.0±7.85 93.34±9.14 0.0001
SBP(mmHg) 142.5±19.6 132.6±19.85 0.0001 138.3±21.62 131.2±20.05 0.0053
DBP(mmHg) 92.28±14.3 83.89±12.04 0.0001 88.79 ±14.58 81.78±12.35 0.0001
FBG(mmol/L) 6.55 ±2.30 6.00±1.54 0.0703 6.05±1.37 5.95±1.38 0.6440
FINS(mIU/L) 9.99 ±6.46 5.05 ±2.20 0.0001 11.79±5.76 7.10±3.50 0.0001
TC(mmol/L) 5.26 ±1.00 5.09±1.10 0.3188 5.43±0.98 5.35±1.00 0.587
TG(mmol/L) 1.83 ±1.24 1.38±1.07 0.0145 1.76±1.30 1.28±0.93 0.007
HDL(mmol/L) 1.30 ±0.36 1.41±0.50 0.1670 1.42±0.46 1.55±0.51 0.1329
LDL (mmol/L) 3.38 ±1.15 3.06±0.90 0.055 3.30±0.88 3.22±1.00 0.5736
HOMA 3.20±2.49 1.30±0.61 0.0001 2.94±1.66 1.86±0.96 0.0004
Group C : fathers of women with PCOS with BMI≥25Kg/m2; Group D: fathers of women with PCOS with BMI < 25Kg/m2Group E: mothers of women with PCOS with BMI≥25Kg/m2; Group F: mothers of women with PCOS with BMI < 25Kg/m2.
BMI=Body mass index; WC=Waist circumference; HC=Hip circumference; SBP=Systolic blood pressure; DBP=Diastolic blood pressure; FBG=Fasting blood glucose; FINS=Fasting insulin; TC= Total cholesterol; LDL=low-density lipoprotein; HDL=high-density lipoprotein; TG= Triglycerides; HOMA-IR=homeostasis-model assessment insulin resistance index.
Clinical and metabolic characteristics of the patients with PCOS according to the genotype of -675 4G/5G polymorphisms(rs1799889) of the PAI-1 gene
The clinical and metabolic characteristics of the patients with PCOS according to the genotype of PAI-1 (rs1799889) were shown in Table 4, no significant differences were observed between the different genotypes.
Table 4 The characteristics of the patients with PCOS according to rs1799889
Variables
|
4G/4G
|
4G/5G
|
5G/5G
|
F- values1
|
4G/4G+4G/5G
|
T-values2
|
Age(yeas)
|
27.13±3.26
|
27.25±4.02
|
27.65±3.97
|
0.3
|
27.20±3.74
|
-0.74
|
BMI
|
24.83±4.19
|
25.60±4.87
|
25.4±4.51
|
0.77
|
25.31±4.63
|
-0.12
|
WC (cm)
|
86.32±11.89
|
86.66±12.75
|
88.18±13.02
|
0.36
|
86.53±12.4
|
-0.83
|
HC(cm)
|
99.37±12.22
|
98.28±10.05
|
99.08±9.64
|
0.3
|
98.7±10.92
|
-0.23
|
SBP(mmHg)
|
118.71±13.64
|
121.27±15.37
|
123±17.07
|
1.4
|
120.3±14.75
|
-1.13
|
DBP(mmHg)
|
80.02±11.24
|
79.31±11.99
|
80.75±12.19
|
0.29
|
79.58±11.69
|
-0.62
|
FBG(mmol/L)
|
5.59±0.81
|
5.52±0.86
|
5.55±0.75
|
0.21
|
5.55±0.84
|
-0.07
|
2hGlu(mmol/L)
|
7.06±2.44
|
6.57±2.48
|
6.87±2.93
|
0.73
|
6.74±2.47
|
-0.29
|
FINS(mmol/L)
|
13.09±7.51
|
14.66±9.54
|
15.4±8.8
|
0.94
|
14.12±8.9
|
-0.84
|
2hins(mmol/L)
|
67.9±63.4
|
76.55±67.35
|
73.26±70.68
|
0.31
|
73.42±65.89
|
0.01
|
CHO(mmol/L)
|
4.86±1.03
|
4.64±0.92
|
4.74±0.95
|
1.3
|
4.72±0.97
|
-0.11
|
LDL(mmol/L)
|
2.99±1.05
|
3.02±0.91
|
3.18±1.07
|
0.58
|
3.01±0.96
|
-1.06
|
HDL(mmol/L)
|
1.41±0.49
|
1.31±0.42
|
1.31±0.44
|
1.15
|
1.35±0.45
|
0.54
|
TG(mmol/L)
|
1.32±0.84
|
1.41±1.06
|
1.46±0.98
|
0.34
|
1.38±0.99
|
-0.05
|
FSH(IU/L)
|
6.05±1.43
|
5.73±1.7
|
6.25±1.35
|
2.01
|
5.84±1.61
|
-1.53
|
LH(IU/L)
|
11.86±6.51
|
10.84±5.93
|
11.21±6.44
|
0.66
|
11.22±6.15
|
0.01
|
PRL(ng/mL)
|
21.38±23.84
|
22.45±28.38
|
17.26±7.77
|
0.71
|
22.07±26.8
|
2.01
|
TSH(IU/L)
|
3.2±3.91
|
2.85±1.55
|
4.07±6.37
|
1.68
|
2.97±2.61
|
-1.1
|
E2(pg/mL)
|
48.46±26.92
|
58.32±50.69
|
45.92±17.31
|
1.88
|
54.92±44.11
|
1.23
|
DHEAS
|
252.74±98.03
|
259.98±101.68
|
269.86±84.77
|
0.36
|
257.4±100.2
|
-0.72
|
HOMA
|
3.58±2.28
|
3.69±2.65
|
3.92±2.38
|
0.22
|
3.65±2.52
|
-0.61
|
1 for comparison with4G/4G, 4G/5G and 5G/5G group. 2 for comparison with 4G/4G+4G/5G and 5G/5G group.
BMI=Body mass index; WC=Waist circumference; HC=Hip circumference; SBP=Systolic blood pressure; DBP=Diastolic blood pressure; F-G score=Ferriman-Gallwey score; FBG=Fasting blood glucose; FINS=Fasting insulin; TC=Total cholesterol; LDL=low-density lipoprotein; HDL=high-densitylipoprotein; TG=Triglycerides; FSH=Follicle-stimulating hormone; LH=luteinizing hormone; PRL=prolactin; TSH=Thyroid-stimulating hormone; TT=Total testosterone; DHEAS=Dehydroepiandrosterone-sulphate; HOMA-IR=homeostasis-model assessment insulin resistance index; INS-B=inhibin B; AMH=anti-mullerian hormone; SHBG=sex hormone binding globulin; Glu=glucose.
There were 123 obese PCOS patients and 162 lean PCOS patients classified by BMI. The distributions of genotypes of PAI-1(rs1799889)were shown inTable 5. In obese PCOS Group, the frequencies of genotypes 4G/4G, 4G/5G and 5G/5G were respectively 35.78%(44/123), 50.4%(62/123) and 13.82%(17/123). The corresponding proportions in lean PCOS were 27.78%(45/162), 53.09%(86/162) and 19.13%(31/162). The frequencies of allele 4G and 5G were 60.98% (150/246) and 39.02%(96/246) in obese PCOS patients, while 55.35% (176/318) and 44.65%(142/318) in lean PCOS patients. There was no significance difference in genotypes of PAI-1 between the two groups (chi-squared = 2.7002, P = 0.2592), and no significance difference in allele frequencies existed too (chi-squared = 1.8023, P = 0.018).
Table 5 Genotypes and allele frequencies of rs1799889 between obese and lean PCOS patients
|
obese (n=123)
|
lean (n=162)
|
χ2
|
P
|
Genotypes, n (%)
|
|
|
|
|
4G/4G
|
44(35.78)
|
45(27.78)
|
|
|
4G/5G
|
62(50.4)
|
86(53.09)
|
2.7002
|
0.2592
|
5G/5G
|
17(13.82)
|
31(19.13)
|
|
|
Genotypes, n (%)
|
|
|
|
|
4G
|
150(60.98)
|
176(55.35)
|
1.8023
|
0.1794
|
5G
|
96(39.02)
|
142(44.65)
|
Hardy-Weinberg equilibrium Test
In our study, the gene transmission of PAI-1(4G/5G, rs1799889) coincided with Hardy-Weinberg equilibrium, as shown in Table 6 .
Table 6 The location of 4G/5G (PAI-1) and Hardy-Weinberg equilibrium
SNP
|
Position
|
HWEpa
|
Alleles
|
MAF b
|
rs1799889
|
38802554
|
0.4742
|
4G:5G
|
0.325
|
a, HWE=Hardy-Weinberg equilibrium; b, MAF=minor allele
MAFs and TDT analysis
A total of 285 families were analyzed in our study. The excessive transmission existed through the − 675 4G/5G polymorphism analysis of PAI-1 gene. The transmission frequency was 0.523. The MAFs of -675 4G/5G polymorphisms (rs1799889) of the PAI-1 gene was 0.325 (P > 0.05). The TDT results for − 675 4G/5G polymorphisms(rs1799889) of the PAI-1 gene shown no association with PCOS (transmitted/non-transmitted = 134:124; χ2 = 0.388; P = 0.5336).
Table 7 Positional information and results of the TDT obtained with 4G/5G SNP of 285 PCOS family trios
Variant
|
PositionaOvertransmitted allele
|
T
|
Not-T
|
Total TDT
|
Transmission frequency
|
HWEp
|
MAF
|
TDT
c2
|
P-value
|
rs1799889
|
38802554 5G
|
134
|
124
|
258
|
0.523
|
0.4742
|
0.325
|
0.388
|
0.5336
|
HWEp=Hardy-Weinberg equilibrium; MAF=minor allele frequency. T, number of transmissions in TDT analysis.