Association between polymorphisms in GGPS1 and RANKL genes and postmenopausal osteoporosis in Romanian women

Objectives: This study aimed to assess the relationship between bone mineral density, fragility fractures, fracture risk and polymorphisms of two osteoporosis-candidate genes (GGPS1 and RANKL) in Romanian women with postmenopausal osteoporosis. Methods: An analytical, prospective, transversal, observational, case-control study on 364 postmenopausal women, of which 228 were previously diagnosed with osteoporosis, was carried out between June 2016 and August 2017 in Cluj Napoca, Romania. Clinical data and blood samples were collected from all study participants. Polymorphisms in GGPS1 and RANKL genes were genotyped using TaqMan SNP Genotyping assays, run on a QuantStudio 3 real-time PCR machine. Results: The CT genotype in GGPS1 rs10925503 was associated with significant lower bone mineral density values at lumbar spine and femoral neck sites and a higher fracture risk compared to controls. No significant association was found between genotypes of RANKL rs2277439 with bone mineral density or fracture risk compared to the healthy controls. Conclusions: Our study showed a strong association between low bone mineral density and genotype CT of GGPS1 rs10925503 polymorphisms. No association was found for RANKL rs2277439 polymorphism.