Polymorphism T→C (−34 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome
| Autor: | Chryssa R Kouli, Giovanna G Spina, Evangelia D Zapanti, Evanthia Diamanti-Kandarakis, Fanny A Filandra, Michael I Bartzis, Angeliki T Bergiele, Thomais C Tsianateli |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
medicine.medical_specialty Genotype medicine.drug_class Biology Polymerase Chain Reaction Pathogenesis Internal medicine medicine Humans Point Mutation Allele Alleles Polymorphism Genetic Greece Point mutation Hyperandrogenism Steroid 17-alpha-Hydroxylase Obstetrics and Gynecology DNA medicine.disease Androgen Polycystic ovary Endocrinology Reproductive Medicine Female Body mass index Polycystic Ovary Syndrome |
| Zdroj: | Fertility and Sterility. 71:431-435 |
| ISSN: | 0015-0282 |
| DOI: | 10.1016/s0015-0282(98)00512-3 |
| Popis: | Objective: To investigate the frequency of T→C substitution (−34 bp) of gene CYP17 promoter in Greek patients with polycystic ovary syndrome (PCOS) and to elucidate its role in the pathogenesis of the syndrome. Design: Follow-up study. Setting: Academic research setting. Patient(s): Fifty patients with PCOS and 50 healthy women. Intervention(s): Body mass index and the waist-hip ratio were determined for each woman. Blood samples were obtained for DNA analysis and hormone estimates. Main Outcome Measure(s): Serum total T levels. Result(s): Seventeen patients (34%) did not carry the base pair substitution (genotype A1A1) and their mean (± SD) total T level was 75.7 ± 32.2 ngl/dL, 29 patients (58%) were heterozygous carriers of the A2 allele (genotype A1A2) and their mean total T level was 77.8 ± 29.9 ng/dL, and 4 patients (8%) carried the A2 allele in homozygosity (genotype A2A2) and their mean total T level was 87.0 ± 2.8 ngl/dL. Twenty-two controls had the genotype A1A1 (44%) and their mean total T level was 39.1 ± 15.5 ng/dL, whereas 28 (56%) had the genotype A1A2 and their mean total T level was 44.9 ± 22.1 ng/dL. Homozygosity of the polymorphic A2 allele was not observed in controls, and this difference (8% versus 0%) was statistically significant. Conclusion(s): Although this base pair substitution is not the primary genetic defect in PCOS, it may aggravate the clinical picture of hyperandrogenemia, particularly when homozygosity exists. |
| Databáze: | OpenAIRE |
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