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Association of a COL1A1 polymorphism with lumbar disc disease in young military recruits
  1. C Tilkeridis*,
  2. T Bei*,
  3. S Garantziotis,
  4. C A Stratakis
  1. Center for Recruitment of Military Personnel for Health Services (KEYG), Hellenic Armed Forces, Arta, Greece, and the Section on Genetics and Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
  1. Correspondence to:
 Dr Constantine A Stratakis
 Section on Endocrinology and Genetics, DEB, NICHD, NIH, Building 10, CRC, Room I-3330, 10 Center Drive, MSC 1103, Bethesda, Maryland 20892, USA; stratakcmail.nih.gov

Abstract

Background: Lumbar disc disease (LDD), one of the most common conditions for which patients seek medical care, has been associated with sequence changes of the COL genes. COL1A1, however, has not been studied in young patients with LDD; COL1A1 polymorphisms have been associated with bone mineral density (BMD) in several populations and with LDD in older adults.

Objective: To study COL1A1 polymorphisms in young Greek army recruits with LDD.

Subjects: These young soldiers were diagnosed with early LDD at the time of their presentation to a military training site. All patients had radiological confirmation of their disease; a control group was also studied.

Methods: Sp1-binding site polymorphism of the COL1A1 gene was investigated by standard methods.

Results: There was an increased frequency of the “ss” genotype (33.3%) in LDD patients; none of the controls had this genotype. In addition, a significantly smaller number of controls was heterozygotes for this allele.

Conclusions: A previously studied sequence change of the regulatory region of the COL1A1 gene, the same as has previously been associated with low BMD in many populations and LDD in older adults, showed a strong association with LDD in young male soldiers who were recently diagnosed with this disease.

  • BMD, bone mineral density
  • LDD, lumbar disc disease
  • collagen
  • spine
  • SP1

https://doi.org/10.1136/jmg.2005.033225

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    Footnotes

    • ↵* Drs Tilkeridis and Bei have contributed equally to this work and are thus sharing first authorship. Dr Tilkeridis is currently at the Department of Orthopaedics, Demokrition University, Thrace, Greece; Dr Garantziotis is currently at Department of Medicine at Duke University Medical Center, Durham, North Carolina 27710, USA.

    • Competing interests: none declared