Abstract | BACKGROUND: MATERIALS AND METHODS: Genetic case-control study from multiple gynecological centers from Hyderabad, a cosmopolitan city in South India. The study involved 204 women with PCOS and 204 healthy, sex-, and age-matched controls. Anthropometric and biochemical profiles were taken in a well-designed pro forma. Isolation of deoxyribonucleic acid ( DNA) and genotype analysis were done for the entire study population using the polymerase chain reaction-restriction fragment length polymorphism method followed by 12% polyacrylamide gel electrophoresis. RESULTS: In this study, we have demonstrated an association between LHCGR (rs2293275) polymorphism and PCOS. The frequency of the G allele was 0.60 in PCOS and 0.49 in controls (odds ratio [OR] 1.531, confidence interval [CI] 1.16-2.01, and p-value=0.0026), which indicates that the G allele is associated with PCOS in our population. The GG genotype conferred a significant risk of developing PCOS (OR 3.36, CI 1.96-5.75, and p-value<0.0001). We found a significant association of the GG allele with body-mass index, waist to hip ratio, insulin resistance, LH, and LH/ follicle-stimulating hormone (FSH) ratio in PCOS when compared with controls. The AA allele showed high basal FSH levels. CONCLUSIONS: This study suggests that LHCGR (rs2293275) polymorphism is associated with PCOS and could be used as a relevant molecular marker to identify women with the risk of developing PCOS in our population and may provide an understanding about the etiology of PCOS.
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Authors | Sujatha Thathapudi, Vijayalakshmi Kodati, Jayashankar Erukkambattu, Uma Addepally, Hasan Qurratulain |
Journal | Genetic testing and molecular biomarkers
(Genet Test Mol Biomarkers)
Vol. 19
Issue 3
Pg. 128-32
(Mar 2015)
ISSN: 1945-0257 [Electronic] United States |
PMID | 25565299
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adolescent
- Adult
- Case-Control Studies
- Exons
- Female
- Gene Frequency
- Genetic Predisposition to Disease
- Humans
- Polycystic Ovary Syndrome
(genetics)
- Polymorphism, Single Nucleotide
- Receptors, LH
(genetics)
- Young Adult
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