Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study

Stuart H Ralston, Nick Galwey, Ian MacKay, Omar M E Albagha, Lon Cardon, Juliet E Compston, Cyrus Cooper, Emma Duncan, Richard Keen, Bente Langdahl, Alastair McLellan, Jeffrey O'Riordan, Huibert A Pols, David M Reid, Andre G Uitterlinden, John Wass, Simon T Bennett

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

Osteoporosis is a common disease with a strong genetic component, characterized by reduced bone mass and an increased risk of fracture. Bone mineral density (BMD) is a highly heritable trait and a key determinant of osteoporotic fracture risk, but the genes responsible are incompletely defined. Here, we identified quantitative trait loci (QTL) for regulation of BMD by a genome wide scan involving 3691 individuals from 715 families, who were selected because of reduced BMD values at the lumbar spine (LS-BMD) or femoral neck (FN-BMD) in probands. Linkage analysis was conducted in the study group as a whole with correction for age, gender, weight and height. Further analyses were conducted for men and women separately to identify gender-specific QTL and for those under and over the age of 50 years to distinguish QTL for peak bone mass from those that influence bone mass in older people. No regions of suggestive or significant linkage were identified when data from all subjects were analyzed together. On subgroup analysis, however, we identified a significant QTL for FN-BMD on chromosome 10q21 (LOD score +4.42; men 50 years) and 20q13 (LOD score +3.20; women
Original languageEnglish
Pages (from-to)943-51
Number of pages9
JournalHuman Molecular Genetics
Issue number7
Publication statusPublished - 1 Apr 2005

Keywords / Materials (for Non-textual outputs)

  • Bone Density
  • Female
  • Femur Neck
  • Genetic Linkage
  • Genome
  • Genome, Human
  • Genotype
  • Humans
  • Lod Score
  • Lumbar Vertebrae
  • Male
  • Osteoporosis
  • Quantitative Trait Loci
  • Sequence Analysis, DNA
  • Sex Factors


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