IMIM - Institut Hospital del Mar d'Investigacions Mèdiques

Musculoskeletal Research Xavier Nogués

Our group research about genetic polymorphisms of OPG, RANK, RANKL and their relation with osteoporosis. Functional analysis of the OPG and RANKL gene polymorphisms.

Determination of gene polymorphsims necessary to study all the TNFRSF11B (OPG) TNFRSF11A (RANK) y TNFSF11 (RANKL) genes in a cohort of at least 1000 posmenopausal women (That we have and we plan to enlarge during the study) using SNPlex technique genotyping that permits until 48 polymorphisms at the same time. Association analysis of different OPG, RANK y RANKL alelles, haplotypes and haplogenotypes with BMD (Bone Mineral Density) and prevalent osteoporotic fractures in posmenopausal women of the study.

Statistical analysis will be done using general model, aditive, recesive and dominant regression analysis according to each alelle characteristic. Functional analysis of OPG and RANKL genes using luciferase gene expression assay. Promoter regions considered relevants for regulation of OPG and RANKL gene will be studied in osteoblast and stimulation with several factors will be done. Identification of proteins that they are linked to regions with polymorphisms related with BMD and/or fractures using EMSA assay, supershift , affinity chromatography and mass spectrophotometry (MALDI-TOF) will be done.

Currently we have genotyping all 1000 postmenopausal women samples and we have found several SNP that have relation with BMD and /or fractures. We are in the next step to find functionality of each one. Results have been recently presented in ASBMR 2007 as a plenary poster. J Bone Miner res 2007;22(suppl 1): S112


Xavier Nogués

93 248 32 46

93 248 32 57

Pg Marítim, 25-29
08003 Barcelona

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