{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T21:17:29Z","timestamp":1791580649270,"version":"4.3.4"},"reference-count":39,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T00:00:00Z","timestamp":1600646400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003407","name":"Ministero dell\u2019Istruzione, dell\u2019Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PRIN 201528E7CM"],"award-info":[{"award-number":["PRIN 201528E7CM"]}],"id":[{"id":"10.13039\/501100003407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Osteoporosis (OP) is a multifactorial disorder in which environmental factors along with genetic variants and epigenetic mechanisms have been implicated. Long non-coding RNAs (lncRNAs) have recently emerged as important regulators of bone metabolism and OP aetiology. In this study, we analyzed the expression level and the genetic association of lncRNA GAS5 in OP patients compared to controls. Quantitative RT-PCR analysis of GAS5 was performed on the serum of 56 OP patients and 28 healthy individuals. OP subjects were divided into three groups of analysis: 29 with fragility fractures of lumbar spine (OP_VF), 14 with fragility fractures of femoral neck (OP_FF) and 13 without fractures (OP_WF). Genotyping of the rs145204276 insertion\/deletion polymorphism has also been performed by Restriction fragment length polymorphism (RFLP) and direct sequencing analyses. Expression of circulating GAS5 is significantly increased in OP patients compared to controls (p &lt; 0.01), with a statistically higher significance in fractured OP individuals vs. healthy subjects (p &lt; 0.001). No statistically significant change was found in female OP patients; conversely, GAS5 is upregulated in the subgroup of fractured OP women sera (p &lt; 0.01) and in all OP males (p &lt; 0.05). Furthermore, a direct correlation between GAS5 expression level and parathyroid hormone (PTH) concentration was found in OP patients (r = 0.2930; p = 0.0389). Genetic analysis of rs145204276 revealed that the deletion allele was correlated with a higher expression of GAS5 in OP patients (0.22 \u00b1 0.02 vs. 0.15 \u00b1 0.01, ** p &lt; 0.01). Our results suggest circulating GAS5 as a putative biomarker for the diagnosis and prognosis of OP and OP-related fractures.<\/jats:p>","DOI":"10.3390\/ijms21186930","type":"journal-article","created":{"date-parts":[[2020,9,21]],"date-time":"2020-09-21T21:01:21Z","timestamp":1600722081000},"page":"6930","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Circulating Long Non-Coding RNA GAS5 Is Overexpressed in Serum from Osteoporotic Patients and Is Associated with Increased Risk of Bone Fragility"],"prefix":"10.3390","volume":"21","author":[{"given":"Virginia Veronica","family":"Visconti","sequence":"first","affiliation":[{"name":"Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy"},{"name":"Department of Orthopedics and Traumatology, PTV Foundation, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7578-395X","authenticated-orcid":false,"given":"Simona","family":"Fittipaldi","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1788-4426","authenticated-orcid":false,"given":"Simone","family":"Ciuffi","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Biomedical Sciences Mario Serio, University of Study of Florence, Viale Pieraccini 6, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Marini","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Biomedical Sciences Mario Serio, University of Study of Florence, Viale Pieraccini 6, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Isaia","sequence":"additional","affiliation":[{"name":"Department of Medical Science, Gerontology Section, University of Turin, Corso Bramante 88\/90, 10126 Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4467-8337","authenticated-orcid":false,"given":"Patrizia","family":"D\u2019Amelio","sequence":"additional","affiliation":[{"name":"Department of Medical Science, Gerontology Section, University of Turin, Corso Bramante 88\/90, 10126 Turin, Italy"},{"name":"Geriatric Unit, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4563-6630","authenticated-orcid":false,"given":"Silvia","family":"Migliaccio","sequence":"additional","affiliation":[{"name":"Department of Movement, Human and Health Sciences, University of Foro Italico of Rome, 00135 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Marcocci","sequence":"additional","affiliation":[{"name":"Department of Clinical and Experimental Medicine, Endocrinology Unit II, University of Pisa and University Hospital of Pisa, Via Paradisa 2, 56124 Pisa, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6525-0439","authenticated-orcid":false,"given":"Salvatore","family":"Minisola","sequence":"additional","affiliation":[{"name":"Department of Clinical, Internal, Anaesthesiologic and Cardiovascular Sciences, Sapienza, Rome University, Viale del Policlinico 155, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ranuccio","family":"Nuti","sequence":"additional","affiliation":[{"name":"Department of Medicine, Surgery and Neuroscience, University of Siena, Policlinico Le Scotte, Viale Bracci 2, 53100 Siena, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy"},{"name":"IRCCS NEUROMED, 86077 Pozzilli, IS, Italy"},{"name":"Department of Pharmacology, School of Medicine, University of Nevada, Reno, NV 89557, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Luisa","family":"Brandi","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Biomedical Sciences Mario Serio, University of Study of Florence, Viale Pieraccini 6, 50139 Florence, Italy"},{"name":"Unit of Bone and Mineral Diseases, University Hospital of Florence, Largo Palagi 1, 50139 Florence, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Botta","sequence":"additional","affiliation":[{"name":"Department of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umberto","family":"Tarantino","sequence":"additional","affiliation":[{"name":"Department of Orthopedics and Traumatology, PTV Foundation, 00133 Rome, Italy"},{"name":"Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata Rome, 00133 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,21]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"46","DOI":"10.5152\/eurjrheum.2016.048","article-title":"An overview and management of osteoporosis","volume":"4","year":"2017","journal-title":"Eur. 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