Amna Younus^1,, Mariam Faiz², Abida Yasmeen¹

Vitamin D receptor mediates the effects of calcitriol on gene expression. VDR gene polymorphisms have been linked with specific health outcomes, including increased risk of osteoporosis, cardiovascular disease, diabetes, some cancers (breast and prostate). Gene based studies give exceptional chance to associate molecular insights with epidemiological information and can disclose factual biological effects. The purpose of present study was to evaluate the genotypic distribution of FokI and TaqI polymorphisms of the VDR gene and their association with serum vitamin D levels in healthy Pakistani women by PCR-RFLP technique. Three hundred healthy women between the age of 19-75years; were selected from different areas of Punjab province, Pakistan. Results showed that genotypic frequency for FF, Ff , ff, TT, Tt and tt was 55, 3, 42, 15, 65, and 20% whereas allelic frequency F vs f and T vs t was 56 vs 44% and 47.5vs 52.5% respectively in Pakistani women population. Results of the study concluded that genotypic frequency distribution of FokI and TaqI polymorphisms in Pakistani population varies differently from other populations and both of these SNPs are associated with vitamin D deficiency and insufficiency. The data may provide basis for future clinical and epidemiological studies.

VDR gene polymorphism, FokI, TaqI, healthy women, Punjab Pakistan