Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22

Claire A Parsons, H Joel Mroczkowski, Fiona E A McGuigan, Omar M E Albagha, Stavros Manolagas, David M Reid, Stuart H Ralston, Robert J Shmookler Reis

Research output: Contribution to journalArticlepeer-review

Abstract

Bone mineral density (BMD) is a complex trait with a strong genetic component and an important predictor of osteoporotic fracture risk. Here we report the use of a cross-species strategy to identify genes that regulate BMD, proceeding from quantitative trait mapping in mice to association mapping of the syntenic region in the human genome. We identified a quantitative trait locus (QTL) on the mouse X-chromosome for post-maturity change in spine BMD in a cross of SAMP6 and AKR/J mice and conducted association mapping of the syntenic region on human chromosome Xp22. We studied 76 single nucleotide polymorphisms (SNP) from the human region in two sets of DNA pools prepared from individuals with lumbar spine-BMD (LS-BMD) values falling into the top and bottom 13th percentiles of a population-based study of 3100 post-menopausal women. This procedure identified a region of significant association for two adjacent SNP (rs234494 and rs234495) within the Xp22 locus (P
Original languageEnglish
Pages (from-to)3141-8
Number of pages8
JournalHuman Molecular Genetics
Volume14
Issue number21
DOIs
Publication statusPublished - 1 Nov 2005

Keywords

  • Absorptiometry, Photon
  • Animals
  • Bone Density
  • Chromosome Mapping
  • Chromosomes, Human, X
  • Crosses, Genetic
  • Female
  • Femur
  • Haplotypes
  • Humans
  • Linear Models
  • Lumbar Vertebrae
  • Mice
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Species Specificity
  • Synteny

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