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

Paul N. Tasker, Omar Al Bagha, Clifford B. Masson, David M. Reid, Stuart H. Ralston

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

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 < 0.0001). These data show that allelic variation within the TNFRSF1B gene contributes to the genetic regulation of FN-BMD and show that it is the ATC haplotype in the 3′UTR region of the gene, rather than other polymorphic variants, that seem to be responsible for the effects observed.

Original languageEnglish
Pages (from-to)903-908
Number of pages6
JournalOsteoporosis International
Volume15
Issue number11
DOIs
Publication statusPublished - Nov 2004
Externally publishedYes

Fingerprint

Bone Fractures
Bone Density
Haplotypes
Genes
Femur Neck
3' Untranslated Regions
Osteoporosis
Osteoporotic Fractures
Tumor Necrosis Factor Receptors
Alleles
Bone and Bones
Population

Keywords

  • Genetic
  • Haplotype
  • Osteoporosis
  • Polymorphism

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Association between TNFRSF1B polymorphisms and bone mineral density, bone loss and fracture. / Tasker, Paul N.; Al Bagha, Omar; Masson, Clifford B.; Reid, David M.; Ralston, Stuart H.

In: Osteoporosis International, Vol. 15, No. 11, 11.2004, p. 903-908.

Research output: Contribution to journalArticle

Tasker, Paul N. ; Al Bagha, Omar ; Masson, Clifford B. ; Reid, David M. ; Ralston, Stuart H. / Association between TNFRSF1B polymorphisms and bone mineral density, bone loss and fracture. In: Osteoporosis International. 2004 ; Vol. 15, No. 11. pp. 903-908.
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