Advertisement

Hormones

, Volume 7, Issue 3, pp 251–254 | Cite as

A novel, non-functional, COL1A1 polymorphism is not associated with lumbar disk disease in young male Greek subjects unlike that of the Sp1 site

  • Thalia Bei
  • Constantinos Tilkeridis
  • Stavros Garantziotis
  • Sosipatros A. Boikos
  • Konstantinos Kazakos
  • Constantinos Simopoulos
  • Constantine A. Stratakis
Research paper

Abstract

OBJECTIVE: We recently reported the association of the Sp1 site polymorphism of the COL1A1 gene with lumbar disk disease (LDD). In the present study we searched for a different polymorphism of the COL1A1 gene (which is usually not in linkage disequilibrium with the Sp1 site) in subjects with LDD. DESIGN: Blood was collected from 24 Greek army recruits, aged 29±7.6 years, with LDD, and 66 healthy men, aged 26±4.38 years, matched for body mass index (BMI) and age, with normal BMD and with no history of trauma or fractures, who served as controls. DNA was extracted and the COL1A1 gene was sequenced. Of the control subjects, 12 were army recruits and 54 were selected from the general population. RESULTS: The four base-pair insertion polymorphism in the COL1A1 gene analyzed by polymerase chain reaction amplification of DNA produces two different fragments (alleles A1 and A2): 14 patients (58.3%) were homozygous for A2A2, versus 35 controls (53%), while 3 patients (12.5%) were A1A1, and 8 of the control subjects (12%) had this genotype. There were no statistically significant differences in the presence of the two alleles of this polymorphism between patients with LDD and control subjects. CONCLUSIONS: A four base-pair insertion polymorphism of the COL1A1 gene is not associated with the presence of LDD in young males, unlike the Sp1 site polymorphism of the same gene. These data reinforce the association between LDD and the functional polymorphisms of the Sp1 site by showing that other polymorphic sites of the of the COL1A1 gene in the same population of patients are not linked to the disease.

Key words

Collagen COL1A1 polymorphism Lumbar Disk Disease 

References

  1. 1.
    Anderson GB, 1999 Epidemiological features of chronic low-back pain. Lancet 354: 581–585.CrossRefGoogle Scholar
  2. 2.
    Deen HG Jr, Yamodis ND, 1989 Lumbar disk disease in active duty military personnel. Mil Med 154: 502–504.CrossRefGoogle Scholar
  3. 3.
    Paassilta P, Lohiniva J, Göring HH, et al, 2001 Identification of a novel common genetic risk factor for lumbar disk disease. JAMA 285: 1843–1849.CrossRefGoogle Scholar
  4. 4.
    Antoniou J, Steffen T, Nelson F, et al, 1996 The human lumbar intervertebral disk. Evidence for changes in the biosynthesis and denaturation of the extracellular matrix with growth, maturation, ageing, and degeneration. J Clin Invest 98: 996–1003.CrossRefGoogle Scholar
  5. 5.
    Pluijm SM, van Essen HW, Bravenboer N, et al, 2004 Collagen type I alpha1 Sp1 polymorphism, osteoporosis, and intervertebral disk degeneration in older men and women. Ann Rheum Dis 63: 71–77.CrossRefGoogle Scholar
  6. 6.
    Seki S, Kawaguchi Y, Chiba K, et al, 2005 A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disk disease. Nat Genet 37: 607–612.CrossRefGoogle Scholar
  7. 7.
    Song YQ, Cheung KM, Ho DW, et al, 2008 Association of the asporin D14 allele with lumbar-disk degeneration in Asians. Am J Hum Genet 82: 744–777.CrossRefGoogle Scholar
  8. 8.
    Tilkeridis C, Bei T, Garantziotis S, Stratakis CA, 2005 Association of a COL1A1 polymorphism with lumbar disk disease in young military recruits. J Med Genet 42: e44.CrossRefGoogle Scholar
  9. 9.
    Nuytinck L, Coppin C, De Paepe A, 1998 A four base pair insertion polymorphism in the 3′ untranslated region of the COL1A1 gene is highly informative for null allele testing in patients with osteogenesis imperfecta type I. Matrix Biology 16: 349–352.CrossRefGoogle Scholar
  10. 10.
    Stratakis CA, Jenkins RB, Pras E, et al, 1996 Cytogenetic and microsatellite alterations in tumors from patients with the syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex). J Clin Endocrinol Metab 81: 3607–3614.PubMedGoogle Scholar
  11. 11.
    Rong Y, Sugumaran G, Silbert JE, et al, 2002 Proteoglycans synthesized by canine intervertebral disk cells grown in a type I collagen-glycosaminoglycan matrix. Tissue Eng 8: 1037–1047.CrossRefGoogle Scholar
  12. 12.
    Sarver JJ, Elliott DM, 2004 Altered disk mechanics in mice genetically engineered for reduced type I collagen. Spine 29: 1094–1098.CrossRefGoogle Scholar

Copyright information

© Hellenic Endocrine Society 2008

Authors and Affiliations

  • Thalia Bei
    • 2
  • Constantinos Tilkeridis
    • 1
  • Stavros Garantziotis
    • 3
  • Sosipatros A. Boikos
    • 2
  • Konstantinos Kazakos
    • 1
  • Constantinos Simopoulos
    • 1
  • Constantine A. Stratakis
    • 2
  1. 1.“Democritus” University of Thrace, AlexandroupolisGreece
  2. 2.Section on Genetics and Endocrinology, Program on Developmental Endocrinology & Genetics, National Institute of Child Health and Human DevelopmentNational Institutes of HealthBethesdaUSA
  3. 3.Center for Recruitment of Military Personnel for Health Services(KEYG), Hellenic Armed ForcesArtaGreece

Personalised recommendations