Publications (102) View all
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Article: The future of pharmacogenetics for osteoporosis.
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ABSTRACT: The possibility to predict the outcome of medical treatments, both in terms of efficacy and development of adverse effects, is the main goal of modern personalized medicine. The principal aim of pharmacogenetics is to design specific predictive genetic tests, to be performed prior to any drug treatment, and to tailor the therapy for each patient based on the results of these tests. Few pharmacogenetic tests are today validated and commonly applied in clinical practice, and none in the area of osteoporosis and bone disorders. Surely, the complex regulation of bone metabolism and the involvement of numerous different molecular pathways makes it difficult to individuate responsible genes and polymorphisms involved in the modulation of anti-osteoporotic drug response and, subsequently, in designing specific predictive analyses.Pharmacogenomics 04/2013; 14(6):641-53. · 3.97 Impact Factor -
Article: Genetic predictors of skeletal outcomes in healthy fertile women: The Bonturno Study.
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ABSTRACT: Skeletal traits as height (Ht) or bone mineral density (BMD) are strongly inherited. Low-density lipoprotein receptor-related protein 5 (LRP5) and farnesyl diphosphonate synthase (FDPS) are candidate genes for bone phenotypes. From Bonturno study, we genotyped 570 healthy Caucasian women aged 20 to 50 years (yrs) for LRP5 rs4988321 (A/G) and rs3736228 (C/T) and FDPS rs2297480 (A/C) single nucleotide polymorphisms. Serum C-telopeptide of type I collagen (CTX), osteocalcin (OC), and N-terminal propeptide of type I procollagen (P1NP) were measured in BMD-evaluated subjects at lumbar spine (LS), total hip (TH) and femoral neck (FN) sites. LRP5 rs4988321 locus correlated with FN-BMD (P=0.0230), while LRP5 rs3736228 genotypes differed in LS-BMD (P=0.0428). When clustered by age, lower FN-BMD was detected in LRP5 GG (P=0.030) subjects of 41 to 50 years but not in younger. Both LRP5 GG and CC genotypes showed higher age-adjusted values of OC, CTX and P1NP. Increased CTX values were in LRP5 GGCC subjects than in those having at least one LRP5 A plus T alleles (P=0.0190). LRP5 CC, GG or GGCC subjects with at least one FDPS C allele showed higher levels of CTX and OC in 31 to 40 yrs or older subjects. In conclusion, LRP5 and FDPS loci age-specifically affect skeletal traits in healthy fertile women.Joint, bone, spine: revue du rhumatisme 12/2012; · 2.25 Impact Factor -
Dataset: A novel polymorphism at the GNAS1 gene associated
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Dataset: A Polymorphic CYP19 TTTA Repeat Influences Aromatase Activity and Estrogen Levels in Elderly Men Effects on Bone Metabolism -- Gennari et al 89 (6) 2803 -- Journal of Clinical Endocrinology & Metabolism
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Dataset: Azidothymidine Induces Apoptosis and Inhibits Cell Growth and
