Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women—Part II: Association of CYP19, FTO, MC4R and INSR Gene Polymorphisms with Clinical Symptoms of PCOS
Abstract
1. Introduction
2. Materials and Methods
2.1. Assessment of the Frequency of Selected Genetic Polymorphisms
2.1.1. Biological Material Collection and DNA Extraction
2.1.2. Primer Selection and Genotyping
- CYP19 rs2414096 (NG_007982.1:g.106017C>T)
- INSR rs1799817 (NG_008852.2:g.173715C>T)
- MC4R rs12970134 (NC_000018.10:g.60217517G>A)
2.1.3. Polymerase Chain Reaction (PCR) and Sanger Sequencing
2.2. Characteristics of PCOS Symptoms
2.3. Statistical Analysis
3. Results
3.1. Characteristics of Groups
3.2. The Occurrence of Selected Genetic Polymorphisms in the Studied Women
3.3. Genotype–Phenotype Correlations in Women with PCOS
3.4. Logistic Regression Analysis
4. Discussion
Study Limitations
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
PCOS | Polycystic Ovary Syndrome |
SNP | Single Nucleotide Polymorphism |
INSR | Insulin Receptor |
FTO | Fat Mass and Obesity-associated gene |
MC4R | Melanocortin 4 Receptor |
CYP19 | Cytochrome P450 Family 19 Subfamily A Member 1 |
gDNA | Genomic DNA |
PCR | Polymerase Chain Reaction |
OG-500 | Oragene DNA Self-Collection Kit |
VAT | Visceral Adipose Tissue |
FMI | Fat Mass Index |
GC | Control Group |
GB | Study Group |
Tm | Melting Temperature |
NCBI | National Center for Biotechnology Information |
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SNP | Starter Sequence (5′→3′) | Starter Length (bp) | Product Length (bp) | Tm (°C) | GC (%) | Cross Dimer | Self Dimer | Hairpin |
---|---|---|---|---|---|---|---|---|
CYP19 a rs2470152 | CTGCCTTTGAGGAGCTTACTGT CTTCTCTGGCTTTCCCCTCT | 22 20 | 278 | 57.73 55.61 | 50 55 | −2.9 | −3.0 0.0 | −1.3 0.0 |
CYP19 rs2414096 | TTGTTCCCTGGACGCATGTT CTTTTGGTTTGAGTGCCCCG | 20 20 | 350 | 57.1 56.97 | 50 55 | −2.0 | −2.3 0.0 | 0.0 0.0 |
INSR rs1799817 | GGTGAAGACGGTCAACGAGT AGCTTAGTGGAGTGAGGGGT | 20 20 | 222 | 59.97 59.88 | 55.00 55.00 | −0.9 | −1.1 −3.0 | −0.9 0.0 |
INSR b rs2059806 | CGGTCTTGTAAGGGTAACTG GAATTCACATTCCCAAGACA | 20 20 | 322 | 55.51 53.47 | 50.00 40.00 | −5.3 | −0.5 −4.3 | 0.0 −1.5 |
MC4R rs12970134 | GTCAGGTCATTGGAAGAGGCT ATGCTTGCCCTGCTAGGTTG | 21 20 | 385 | 56.9 57.61 | 52.38 55.00 | −3.0 | 0.0 −1.6 | 0.0 −1.3 |
MC4R c rs17782313 | AGGAAACAGCAGGGATAGGG TGCTGAGACAGGTTCATAAAAG | 20 23 | 407 | 55.66 54.74 | 55.00 39.13 | −4.9 | 0.0 −1.1 | 0.0 −1.1 |
FTO d rs9939609 | AGGAGAGGAGAAAGTGAGCT TGTTCAAGTCACACTCAGCCTC | 20 22 | 504 | 57.38 60.48 | 50.00 50.00 | −2.9 | −3.0 −1.0 | 0.0 −1.0 |
Gene Polymorphism | Genotype | Observed Value | Expected Value | χ2 | p1 | p2 |
---|---|---|---|---|---|---|
CYP19 rs2470152 | CC | GC: 8 | GC: 7.35 | 1.814 | 0.404 | 0.414 |
GB: 7 | GB: 7.65 | |||||
TT | GC: 3 | GC: 4.90 | ||||
GB: 7 | GB: 5.10 | |||||
CT | GC: 13 | GC: 11.76 | ||||
GB: 11 | GB: 12.24 | |||||
CYP19 rs2414096 | CC | GC: 5 | GC: 6 | 0.556 | 0.757 | 0.726 |
GB: 7 | GB: 6 | |||||
CT | GC: 10 | GC: 10 | ||||
GB: 10 | GB: 10 | |||||
TT | GC: 10 | GC: 9 | ||||
GB: 8 | GB: 9 | |||||
INSR rs1799817 | CC | GC: 18 | GC: 18 | 1.077 | 0.584 | 1.0 |
GB: 18 | GB: 18 | |||||
CT | GC: 7 | GC: 6.5 | ||||
GB: 6 | GB: 6.5 | |||||
TT | GC: 0 | GC: 0.5 | ||||
GB: 1 | GB: 0.5 | |||||
INSR rs2059806 | GG | GC: 18 | GC: 18.5 | 0.118 | 0.943 | 1.0 |
GB: 19 | GB: 18.5 | |||||
AA | GC: 1 | GC: 1.0 | ||||
GB: 1 | GB: 1.0 | |||||
GA | GC: 6 | GC: 5.5 | ||||
GB: 5 | GB: 5.5 | |||||
MC4R rs12970134 | GG | GC: 11 | GC: 14 | 3.171 | 0.205 | 0.207 |
GB: 17 | GB: 14 | |||||
GA | GC: 5 | GC: 3.5 | ||||
GB: 2 | GB: 3.5 | |||||
AA | GC: 9 | GC: 7.5 | ||||
GB: 6 | GB: 7.5 | |||||
MC4R rs17782313 | TT | GC: 15 | GC: 16 | 2.125 | 0.346 | 0.485 |
GB: 17 | GB: 16 | |||||
CC | GC: 2 | GC: 1.0 | ||||
GB: 0 | GB: 1.0 | |||||
TC | GC: 8 | GC: 8.0 | ||||
GB: 8 | GB: 8.0 | |||||
FTO rs9939609 | TT | GC: 7 | GC: 6.5 | 0.11 | 0.945 | 1.0 |
GB: 6 | GB: 6.5 | |||||
AA | GC: 5 | GC: 5.0 | ||||
GB: 5 | GB: 5.0 | |||||
TA | GC: 13 | GC: 13.5 | ||||
GB: 14 | GB: 13.5 |
CYP19rs2470152 | ||||
Control Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
CC | 8 | 8.76 | 0.421 | 0.810 |
TT | 3 | 3.76 | ||
CT | 13 | 11.48 | ||
Study Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
CC | 7 | 6.25 | 0.360 | 0.835 |
TT | 7 | 6.25 | ||
CT | 11 | 12.25 | ||
CYP19rs2414096 | ||||
Control Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
CC | 5 | 4.0 | 0.694 | 0.707 |
CT | 10 | 12.0 | ||
TT | 10 | 9.0 | ||
Study Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
CC | 7 | 5.76 | 0.987 | 0.610 |
CT | 10 | 12.48 | ||
TT | 8 | 6.76 | ||
INSRrs1799817 | ||||
Control Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
CC | 18 | 18.49 | 0.663 | 0.718 |
CT | 7 | 6.02 | ||
TT | 0 | 0.49 | ||
Study Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
CC | 18 | 17.64 | 0.287 | 0.866 |
CT | 6 | 6.72 | ||
TT | 1 | 0.64 | ||
INSRrs2059806 | ||||
Control Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
GG | 18 | 17.64 | 0.287 | 0.866 |
AA | 1 | 0.64 | ||
GA | 6 | 6.72 | ||
Study Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
GG | 19 | 18.49 | 0.718 | 0.698 |
AA | 1 | 0.49 | ||
GA | 5 | 6.02 | ||
MC4Rrs12970134 | ||||
Control Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
GG | 11 | 7.29 | 8.923 | 0.012 |
GA | 5 | 12.42 | ||
AA | 9 | 5.29 | ||
Study Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
GG | 17 | 12.96 | 16.064 | 0.0003 |
GA | 2 | 10.08 | ||
AA | 6 | 1.96 | ||
MC4Rrs17782313 | ||||
Control Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
TT | 15 | 14.44 | 9.13 | 0.01 |
CC | 2 | 9.12 | ||
TC | 8 | 1.44 | ||
Study Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
TT | 17 | 17.64 | 13.00 | 0.002 |
CC | 0 | 6.72 | ||
TC | 8 | 0.64 | ||
FTOrs9939609 | ||||
Control Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
TT | 7 | 7.29 | 0.03 | 0.98 |
AA | 5 | 5.29 | ||
TA | 13 | 12.42 | ||
Study Group | ||||
Genotype | Observed value | Expected value | χ2 | p |
TT | 6 | 6.76 | 0.19 | 0.911 |
AA | 5 | 5.76 | ||
TA | 14 | 12.48 |
CYP19rs2470152 | |||
Control Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
C | 0.6 | ||
T | 0.4 | ||
CC | 0.33 | 8 | 8.76 |
TT | 0.13 | 3 | 3.76 |
CT | 0.54 | 13 | 11.48 |
Study Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
C | 0.5 | ||
T | 0.5 | ||
CC | 0.28 | 7 | 6.25 |
TT | 0.28 | 7 | 6.25 |
CT | 0.44 | 11 | 12.5 |
CYP19rs2414096 | |||
Control Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
C | 0.4 | ||
T | 0.6 | ||
CC | 0.20 | 5 | 4 |
CT | 0.40 | 10 | 12 |
TT | 0.40 | 10 | 9 |
Study Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
C | 0.48 | ||
T | 0.52 | ||
CC | 0.28 | 7 | 5.76 |
CT | 0.40 | 10 | 12.48 |
TT | 0.32 | 8 | 6.76 |
INSRrs1799817 | |||
Control Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
C | 0.86 | ||
T | 0.14 | ||
CC | 0.72 | 18 | 18.49 |
CT | 0.28 | 7 | 6.02 |
TT | 0.00 | 0 | 0.49 |
Study Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
C | 0.84 | ||
T | 0.16 | ||
CC | 0.72 | 18 | 17.64 |
CT | 0.24 | 6 | 6.72 |
TT | 0.04 | 1 | 0.64 |
INSRrs2059806 | |||
Control Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
G | 0.84 | ||
A | 0.16 | ||
GG | 0.72 | 18 | 17.64 |
AA | 0.04 | 1 | 0.64 |
GA | 0.24 | 6 | 6.72 |
Study Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
G | 0.86 | ||
A | 0.14 | ||
GG | 0.76 | 19 | 18.49 |
AA | 0.04 | 1 | 0.49 |
GA | 0.20 | 5 | 6.02 |
MC4Rrs12970134 | |||
Control Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
G | 0.54 | ||
A | 0.46 | ||
GG | 0.44 | 11 | 7.29 |
GA | 0.20 | 5 | 12.42 |
AA | 0.36 | 9 | 5.29 |
Study Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
G | 0.72 | ||
A | 0.28 | ||
GG | 0.68 | 17 | 12.96 |
GA | 0.08 | 2 | 10.08 |
AA | 0.24 | 6 | 1.96 |
MC4Rrs17782313 | |||
Control Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
T | 0.76 | ||
C | 0.24 | ||
TT | 0.58 | 15 | 14.44 |
CC | 0.06 | 2 | 1.44 |
TC | 0.36 | 8 | 9.12 |
Study Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
T | 0.84 | ||
C | 0.16 | ||
TT | 0.70 | 17 | 17.64 |
CC | 0.03 | 0 | 0.64 |
TC | 0.27 | 8 | 6.72 |
FTOrs9939609 | |||
Control Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
T | 0.54 | ||
A | 0.46 | ||
TT | 0.29 | 7 | 7.29 |
AA | 0.21 | 5 | 5.29 |
TA | 0.50 | 13 | 12.42 |
Study Group | |||
Allele/Genotype | Frequency | Observed value | Expected value |
T | 0.52 | ||
A | 0.48 | ||
TT | 0.27 | 6 | 6.76 |
AA | 0.23 | 5 | 5.76 |
TA | 0.50 | 14 | 12.48 |
Clinical Symptom | CYP19 Genotype | Symptom Presence—YES (n, %) | Symptom Presence—NO (n, %) | p (Chi2) |
---|---|---|---|---|
Irregular menstruation | T (TT + CT) | 16 (66.7%) | 19 (73.1%) | 0.62119 |
CC | 8 (33.3%) | 7 (26.9%) | ||
Hirsutism | T (TT + CT) | 15 (75.0%) | 20 (66.7%) | 0.52873 |
CC | 5 (25.0%) | 10 (33.3%) | ||
Acne | T (TT + CT) | 13 (65.0%) | 22 (73.3%) | 0.52873 |
CC | 7 (35.0%) | 8 (26,7%) | ||
Androgenetic alopecia | T (TT + CT) | 5 (83.3%) | 30 (68.2%) | 0.77572 |
CC | 1 (16.7%) | 14 (31.8%) | ||
Excessive body weight | T (TT + CT) | 16 (76.2%) | 19 (65.5%) | 0.41630 |
CC | 5 (23.8%) | 10 (34.5%) |
Clinical Symptom | INSR Genotype | Symptom Presence—YES (n, %) | Symptom Presence—NO (n, %) | p (Chi2) |
---|---|---|---|---|
Irregular menstruation | T (TT + CT) | 6 (25.0%) | 8 (30.8%) | 0.64989 |
CC | 18 (75.0%) | 18 (69.2%) | ||
Hirsutism | T (TT + CT) | 6 (30.0%) | 8 (26.7%) | 0.79705 |
CC | 14 (70.0%) | 22 (73.3%) | ||
Acne | T (TT + CT) | 1 (5.0%) | 13 (43.3%) | 0.00839 * |
CC | 19 (95.0%) | 17 (56.7%) | ||
Androgenetic alopecia | T (TT + CT) | 12 (27.3%) | 2 (33.3%) | 0.86150 |
CC | 32 (72.7%) | 4 (66.7%) | ||
Excessive body weight | T (TT + CT) | 6 (28.6%) | 8 (27.6%) | 0.93896 |
CC | 15 (71.4%) | 21 (72.4%) |
Clinical Symptom | INSR Genotype | Symptom Presence—YES (n, %) | Symptom Presence—NO (n, %) | p (Chi2) |
---|---|---|---|---|
Irregular menstruation | A (AA + AG) | 6 (25.0%) | 7 (26.9%) | 0.87691 |
GG | 18 (75.0%) | 19 (73.1%) | ||
Hirsutism | A (AA + AG) | 5 (25.0%) | 8 (26.7%) | 0.89528 |
GG | 15 (75.0%) | 22 (73.3%) | ||
Acne | A (AA + AG) | 3 (15.0%) | 10 (33.3%) | 0.26322 |
GG | 17 (85.0%) | 20 (66.7%) | ||
Androgenetic alopecia | A (AA + AG) | 1 (16.7%) | 12 (27.3%) | 0.57848 |
GG | 5 (83.3%) | 32 (72.7%) | ||
Excessive body weight | A (AA + AG) | 3 (14.3%) | 10 (34.5%) | 0.20042 |
GG | 18 (85.7%) | 19 (65.5%) |
Clinical Symptom | MC4R Genotype | Symptom Presence—YES (n, %) | Symptom Presence—NO (n, %) | p (Chi2) |
---|---|---|---|---|
Irregular menstruation | A (AA + AG) | 8 (33.3%) | 14 (53.8%) | 0.14433 |
GG | 16 (66.7%) | 12 (46.2%) | ||
Hirsutism | A (AA + AG) | 7 (35.0%) | 15 (50.0%) | 0.29519 |
GG | 13 (65.0%) | 15 (50.0%) | ||
Acne | A (AA + AG) | 10 (50.0%) | 12 (40.0%) | 0.48526 |
GG | 10 (50.0%) | 18 (60.0%) | ||
Androgenetic alopecia | A (AA + AG) | 3 (50.0%) | 19 (43.2%) | 0.90231 |
GG | 3 (50.0%) | 25 (56.8%) | ||
Excessive body weight | A (AA + AG) | 7 (33.3%) | 15 (51.7%) | 0.19601 |
GG | 14 (66.7%) | 14 (48.3%) |
Clinical Symptom | MC4R Genotype | Symptom Presence—YES (n, %) | Symptom Presence—NO (n, %) | p (Chi2) |
---|---|---|---|---|
Irregular menstruation | C (CC + CT) | 8 (33.3%) | 10 (38.5%) | 0.70586 |
TT | 16 (66.7%) | 16 (61.5%) | ||
Hirsutism | C (CC + CT) | 6 (30.0%) | 12 (40.0%) | 0.47049 |
TT | 14 (70.0%) | 18 (60.0%) | ||
Acne | C (CC + CT) | 9 (45.0%) | 9 (30.0%) | 0.27902 |
TT | 11 (55.0%) | 21 (70.0%) | ||
Androgenetic alopecia | C (CC + CT) | 3 (50.0%) | 15 (34.1%) | 0.75788 |
TT | 3 (50.0%) | 29 (65.9%) | ||
Excessive body weight | C (CC + CT) | 6 (28.6%) | 12 (41.4%) | 0.35173 |
TT | 15 (71.4%) | 17 (58.6%) |
Clinical Symptom | FTO Genotype | Symptom Presence—YES (n, %) | Symptom Presence—NO (n, %) | p (Chi2) |
---|---|---|---|---|
Irregular menstruation | A (AA + AT) | 18 (75%) | 20 (76.9%) | 0.8736 |
TT | 6 (25%) | 6 (23.1%) | ||
Hirsutism | A (AA + AT) | 16 (80%) | 22 (73.3%) | 0.5887 |
TT | 4 (20%) | 8 (26.7%) | ||
Acne | A (AA + AT) | 16 (80%) | 22 (73.3%) | 0.58869 |
TT | 4 (20%) | 8 (26,7%) | ||
Androgenetic alopecia | A (AA + AT) | 5 (83.3%) | 33 (75%) | 0.65390 |
TT | 1 (16.7%) | 11 (25%) | ||
Excessive body weight | A (AA + AT) | 7 (24.1%) | 22 (75.9%) | 0.97859 |
TT | 5 (23.8%) | 16 (76.2%) |
Variable | Coefficient (B) | p-Value | Odds Ratio (OR) | Interpretation |
---|---|---|---|---|
Intercept | −27.661 | 0.000 | – | Statistically significant; not interpreted clinically |
Irregular menstruation/anovulation | 22.491 | 0.000 | 736.904 | Strong, highly significant positive predictor |
BMI | 0.260 | 0.133 | 1.296 | 30% increase in odds per 1 unit of BMI; not statistically significant |
Hirsutism | 21.199 | 0.000 | 520.546 | Strong, highly significant positive predictor |
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Nowosad, K.; Ostrowska, M.; Glibowski, P.; Iłowiecka, K.; Koch, W. Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women—Part II: Association of CYP19, FTO, MC4R and INSR Gene Polymorphisms with Clinical Symptoms of PCOS. Genes 2025, 16, 840. https://doi.org/10.3390/genes16070840
Nowosad K, Ostrowska M, Glibowski P, Iłowiecka K, Koch W. Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women—Part II: Association of CYP19, FTO, MC4R and INSR Gene Polymorphisms with Clinical Symptoms of PCOS. Genes. 2025; 16(7):840. https://doi.org/10.3390/genes16070840
Chicago/Turabian StyleNowosad, Karolina, Małgorzata Ostrowska, Paweł Glibowski, Katarzyna Iłowiecka, and Wojciech Koch. 2025. "Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women—Part II: Association of CYP19, FTO, MC4R and INSR Gene Polymorphisms with Clinical Symptoms of PCOS" Genes 16, no. 7: 840. https://doi.org/10.3390/genes16070840
APA StyleNowosad, K., Ostrowska, M., Glibowski, P., Iłowiecka, K., & Koch, W. (2025). Dietary and Genetic Aspects of Polycystic Ovary Syndrome (PCOS) in Polish Women—Part II: Association of CYP19, FTO, MC4R and INSR Gene Polymorphisms with Clinical Symptoms of PCOS. Genes, 16(7), 840. https://doi.org/10.3390/genes16070840