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Collagen type I α1 Sp1 polymorphism, osteoporosis, and intervertebral disc degeneration in older men and women
  1. S M F Pluijm1,
  2. H W van Essen2,
  3. N Bravenboer2,
  4. A G Uitterlinden3,
  5. J H Smit4,
  6. H A P Pols3,
  7. P Lips1,2
  1. 1Institute for Research in Extramural Medicine (EMGO Institute), VU University Medical Centre (Vumc), Amsterdam, The Netherlands
  2. 2Department of Endocrinology, VU University Medical Centre (Vumc), Amsterdam, The Netherlands
  3. 3Department of Internal Medicine, Erasmus University Medical School, Rotterdam, The Netherlands
  4. 4Department of Sociology and Social Gerontology, Vrije Universiteit, Amsterdam, The Netherlands
  1. Correspondence to:
    Dr P Lips
    Department of Endocrinology, VU University Medical Centre (Vumc), PO Box 7057, 1007 MB Amsterdam, The Netherlands;


Objectives: To examine whether collagen type I α1 (COLIA1) Sp1 polymorphism is associated with osteoporosis and/or intervertebral disc degeneration in older people.

Methods: COLIA1 genotype was determined in 966 men and women (⩾65 years) of the Longitudinal Aging Study Amsterdam. The guanine (G) to thymidine (T) polymorphism in the first intron of the COLIA1 gene was detected by PCR and MscI digestion. In the total sample, quantitative ultrasound (QUS) measurements, serum osteocalcin (OC), and urine deoxypyridinoline (DPD/Crurine) were assessed. A follow up of fractures was done every three months. In a subsample, total body bone mineral content (n = 485) and bone mineral density (BMD) of the hip and lumbar spine (n = 512) were measured by dual energy x ray absorptiometry (DXA). Prevalent vertebral deformities and intervertebral disc degeneration were identified on radiographs (n = 517).

Results: People with the TT genotype had a higher risk of disc degeneration than those with the GG and GT genotypes (OR = 3.6; 95% CI 1.3 to 10). For men, higher levels of OC were found in those with the T allele than in those without it (GG v (GT+TT) 1.96 (0.06) nmol/l v 2.19 (0.09) nmol/l). COLIA1 polymorphism was not significantly associated with other measures of osteoporosis in either men or women.

Conclusion: COLIA1 Sp1 polymorphism may be a genetic risk factor related to intervertebral disc degeneration in older people. Previously reported associations between the COLIAI Sp1 genotype and lower BMD or QUS values, higher levels of DPD/Cr, and an increased fracture risk in either men or women could not be confirmed.

  • COLIA1 Sp1 polymorphism
  • osteoporosis
  • fractures
  • disk degeneration
  • genetic risk factor
  • ANOVA, analysis of variance
  • BMC, bone mineral content
  • BMD, bone mineral density
  • BUA, broadband ultrasound attenuation
  • CI, confidence interval
  • COLIA1, collagen type I α1
  • DPD, deoxypyridinoline
  • DXA, dual energy x ray absorptiometry
  • G, guanine
  • JSN, joint space narrowing
  • LASA, Longitudinal Aging Study Amsterdam
  • OA, osteoarthritis
  • OR, odds ratio
  • PCR, polymerase chain reaction
  • QUS, quantitative ultrasound
  • RR, relative risk
  • SOS, speed of sound
  • T, thymidine
  • VUMC, VU University Medical Centre

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  • The results presented here have been previously published as an abstract: Pluijm SMF, van Essen HW, Bravenboer N, Uitterlinden AG, Smit JH, Lips P. Collagen type I alpha 1 Sp1 polymorphism, osteoporosis and osteoarthritis in older men and women. Bone2001;:.