Background: This study was designed to evaluate the associations between vitamin D receptor (VDR) gene polymorphisms and biochemical characteristics of Saudi women with polycystic ovary syndrome (PCOS). Methods: Serum levels of LH, FSH, and Vitamin D were measured in 33 women: 16 patients and 17 normal controls (18 to 36 years). DNA was extracted and used for sequencing of the exons of VDR gene using ABI PRISM 3730xi Genetic Analyzer. Results: Weight, BMI, Vit D, LH and FSH levels were higher in the PCOS patients compared to control group, where Vit D level correlated positively and significantly with FSH, in the control, but showed a negative and non-significant correlation in the PCOS patients. Sequencing results showed extensive polymorphisms in both groups, but the differences in the frequencies were not significant. Demographic and hormonal parameters were compared in the different genotypes of the SNPs. Significant differences were ob served in the values of the studied parameters in rs11168276,
Kratak sadr`ajUvod: Ovo izu~avanje je planirano da proceni vezu izme|u genskog polimorfizma vitamin D receptora (VDR) i biohemijskih karakteristika saudijskih `ena sa sindromom policisti~nih ovarijuma (PCOS). Metode: Nivoi serumskog LH, FSH i vitamina D mereni su kod 33 `ene: 16 pacijenata i 17 zdravih `ena (izme|u 18 i 36 godina). DNK je izolovan i kori{}en za sekvenciranje eksona VDR gena primenom AQBI PRISM 3730xi Genetic Analyser-a. Rezultati: Te`ina, BMI, nivoi vitamina D, LH i FSH bili su vi{i kod pacijenata sa PCOS nego kod kontrolne grupe, dok su nivoi vitamina D pozitivno i zna~ajno korelirali sa FSH kod kontrolne grupe, dok je na|ena negativna korelacija kod pacijenata sa PCOS. Rezultati sekvenciranja su pokazali ekstenzivni polimorfizam u obe grupe, a razlike u frekvencama u obe grupe nisu bile zna~ajne. Demografski i hormonski parametri su pore|eni kod razli~itih genotipova SNPs. Zna~ajne razlike su na|ene kod vrednosti prou~a vanih parametara u rs11168276, rs2228570, rs11168266, List of abbreviations: BMI, Body mass index; CI, 2.5-95% confidence interval; ELISA, Enzyme Linked Immuno Sorbent