B – Data Analysis and Bioinformatics in Medical Genetics B01 ALLELIC FREQUENCIES OF GENETIC VARIANTS ASSOCIATED WITH BONE MARROW DENSITY, IN TURKISH POPULATION

Introduction: Osteoporosis is a complex disease, which prevalence markedly increases with aging. The disease characterized by increased risk of bone fracture and reduction in skeletal mass. Population based studies indicates contribution of genetic traits to disease, besides of hormonal, nutritional and lifestyle factors. In this study, we investigated single nucleotide polymorphisms, to access allelic frequency of genetic variation associated with osteoporosis. Materials and methods: Genotyping were carried out in a large sample group (n = 500), using MALDI_TOF based mass spectrometry. Genes, significantly associated with differences in BMD and/or fracture risk in multiple replication studies were included and sequence variants, IL-6_rs1800795, TNFalfa_rs1800629, IL-6_rs1800796, VDR_rs1544410, Col1A1_ rs1800012, VDR_rs2228570, VDR_rs731236, were analyzed according to manufacturer’s protocol of Sequenom hME platform. Results: Genotype and allele frequencies were calculated and compared with other populations. Genotyping results were consistent with the Hardy-Weinberg equation. Some genotypes, causing susceptibility to osteoporosis, were found to be frequent in the screened group. Conclusion: The application of genomics tools and concepts on an individual level may provide more useful and personspecific knowledge for preventing disease. To determine the prevalence of genetic factors in the population may contribute to the development of more precisely and safely healthcare systems that target individuals rather than general public.