Association between TNFRSF1B polymorphisms and bone mineral density, bone loss and fracture

Paul N Tasker, Omar M E Albagha, Clifford B Masson, David M Reid, Stuart H Ralston

Research output: Contribution to journalArticlepeer-review


The TNFRSF1B gene, which encodes the p75 TNF receptor, is a strong functional and positional candidate gene for susceptibility to osteoporosis. In a previous study, we reported that polymorphic variation in the 3' untranslated region of TNFRSF1B was associated with femoral neck bone mineral density (BMD) in a population-based cohort of Scottish women. In order to further explore the role of TNFRSF1B as a candidate gene for osteoporosis, we have now studied the relationship between a promoter polymorphism in the TNFRSF1B gene and BMD, and determined whether this polymorphism interacts with other polymorphisms in TNFRSF1B to regulate bone mass, bone loss, and osteoporotic fracture. Analysis of individual polymorphisms showed weak associations between the G593A, T598G and T620C polymorphisms and femoral neck BMD (P=0.05-0.017). On haplotype analysis, the only significant association we observed was with FN BMD when haplotypes were grouped according to presence or absence of A593-T598-C620 alleles in the 3' UTR (0.897+/-0.005 versus 0.841+/-0.01; P
Original languageEnglish
Pages (from-to)903-8
Number of pages6
JournalOsteoporosis international
Issue number11
Publication statusPublished - Nov 2004


  • Bone Density
  • Female
  • Femur Neck
  • Fractures, Bone
  • Haplotypes
  • Hormone Replacement Therapy
  • Humans
  • Linkage Disequilibrium
  • Middle Aged
  • Osteoporosis, Postmenopausal
  • Polymorphism, Genetic
  • Promoter Regions, Genetic
  • Prospective Studies
  • Receptors, Tumor Necrosis Factor
  • Receptors, Tumor Necrosis Factor, Type II
  • Spine


Dive into the research topics of 'Association between TNFRSF1B polymorphisms and bone mineral density, bone loss and fracture'. Together they form a unique fingerprint.

Cite this