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, rs11168266, rs3858733, rs121909790, rs11168265 and rs731236. Vitamin D level was influenced significantly by the genotypes of rs11168265 (AA) (p=0.008), rs11168276 (AA; p=0.018) and rs731236 (CC; p=0.024).
Conclusion: Vitamin D deficiency does not associate with PCOS in Saudi females. Several SNPs are identified in the VDR gene, in normal and PCOS females, but there is no difference in their frequencies between the two groups. The results show that polymorphism in VDR gene influences certain anthropometric and hormonal parameters in PCOS patients. Further detailed studies are required to confirm the associations between VDR and PCOS.
Uvod: Ovo izučavanje je planirano da proceni vezu između genskog polimorfizma vitamin D receptora (VDR) i biohemijskih karakteristika saudijskih žena sa sindromom policističnih ovarijuma (PCOS).
Metode: Nivoi serumskog LH, FSH i vitamina D mereni su kod 33 žene: 16 pacijenata i 17 zdravih žena (između 18 i 36 godina). DNK je izolovan i korišćen za sekvenciranje eksona VDR gena primenom AQBI PRISM 3730xi Genetic Analyser-a.
Rezultati: Težina, BMI, nivoi vitamina D, LH i FSH bili su viši kod pacijenata sa PCOS nego kod kontrolne grupe, dok su nivoi vitamina D pozitivno i značajno korelirali sa FSH kod kontrolne grupe, dok je nađena negativna korelacija kod pacijenata sa PCOS. Rezultati sekvenciranja su pokazali ekstenzivni polimorfizam u obe grupe, a razlike u frekvencama u obe grupe nisu bile značajne. Demografski i hormonski parametri su poređeni kod različitih genotipova SNPs. Značajne razlike su nađene kod vrednosti proučavanih parametara u rs11168276, rs2228570, rs11168266, rs3858733, rs121909790, rs11168265, i rs731236. Na vitamin D značajno su uticali genotipovi rs11168265 (AA) (p = 0,008), rs11168276 (AA; p = 0,018) i rs731236 (CC; p = 0,024).
Zaključak: Deficit vitamina D nije povezan sa PCOS kod saudijskih žena. Nekoliko SNPs je identifikovano kod VDR gena kako kod zdravih žena tako i onih sa PCOS, i nije bilo razlike u njihovim frekvencijama u obe grupe. Rezultati su pokazali da polimorfizam VDR gena utiče na izvesne antropometrijske i hormonske parametre u PCOS pacijenata. Neophodna su dalja izučavanja kako bi se potvrdile veze između VDR i PCOS.
Keywords: SNPs; polycystic ovarian syndrome; vitamin D; vitamin D receptor.