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Identification of a novel locus on chromosome 2q13 which predisposes to clinical vertebral fractures independently of bone density

Research output: Contribution to journalArticle

  • Karol Estrada
  • Lizbeth Herrera
  • Sjur Reppe
  • Ole K Olstad
  • Kaare M Gautvik
  • Carrie M Nielson
  • Yi-Hsiang Hsu
  • Douglas P Kiel
  • George Markozannes
  • Evangelia E Ntzani
  • Evangelos Evangelou
  • Bjarke Feenstra
  • Xueping Liu
  • Mads Melbye
  • Laura Masi
  • Maria Luisa Brandi
  • Jose Manuel Olmos
  • Carmen Valero
  • Jesus Castillo
  • Jose A. Riancho
  • Lise B Husted
  • Bente L Langdahl
  • Matthew A Brown
  • Emma L Duncan
  • Stephen Kaptoge
  • Kay-Tee Khaw
  • Ricardo Usategui-Martín
  • Javier del Pino Montes
  • Rogelio Gonzalez-Sarmiento
  • Joshua R Lewis
  • Richard L Prince
  • Patrizia D'Amelio
  • Natàlia Garcia-Giralt
  • Xavier Nogues
  • Simona Mencej-Bedrac
  • Janja Marc
  • Orit Wolstein
  • John A Eisman
  • Ling Oei
  • Carolina Medina-Gomez
  • Toshiko Tanaka
  • Luigi Ferrucci
  • Fernando Gianfrancesco
  • Luigi Gennari
  • Gavin Lucas
  • Roberto Elosua
  • Andre G. Uitterlinden
  • Fernando Rivadeneira

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  • main_manuscript_ARD_29_sept_2017

    Rights statement: This is the author's peer reviewed manuscript as accepted for publication.

    Accepted author manuscript, 263 KB, Word document

    Licence: Creative Commons: Attribution Non-Commercial (CC-BY-NC)

Original languageEnglish
Pages (from-to)378-385
Number of pages8
JournalAnnals of the Rheumatic Diseases
Issue number3
Early online date23 Nov 2017
Publication statusPublished - Mar 2018


Clinical vertebral fractures are important complications of osteoporosis. We conducted an analysis of the whole genome (known as genome-wide association study) in 1,553 postmenopausal women with clinical vertebral fractures and 4,340 controls. Results obtained were replicated in two stages, involving 1,028 cases and 3,762 controls. We then identified for the first time a variant, rs10190845, located on chromosome 2, which was significantly associated with the appearance of clinical vertebral fractures in patients with osteoporosis. We also found that the effect of this genetic variant is independent of the bone mineral density of the patients. Bioinformatic analysis indicated that TTL or SLC20A1 genes could be the candidate genes associated with the trait.

    Research areas

  • Osteoporosis, Gene polymorphism, bone mineral density, TTL, SLC20A1

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