Mapping quantitative trait loci for cross-sectional geometry at the femoral neck

Hui Shen, Ji Rong Long, Dong Hai Xiong, Yong Jun Liu, Yao Zhong Liu, Peng Xiao, Lan Juan Zhao, Volodymyr Dvornyk, Yuan Yuan Zhang, Sonia Rocha-Sanchez, Peng Yuan Liu, Jin Long Li, Hong Wen Deng

Research output: Contribution to journalArticlepeer-review

26 Scopus citations


A genome-wide linkage scan was performed in a sample of 79 multiplex pedigrees to identify genomic regions linked to femoral neck cross-sectional geometry. Potential quantitative trait loci were detected at several genomic regions, such as 10q26, 20p12-q12, and chromosome X. Introduction: Bone geometry is an important determinant of bone strength and osteoporotic fractures. Previous studies have shown that femoral neck cross-sectional geometric variables are under genetic controls. To identify genetic loci underlying variation in femoral neck cross-sectional geometry, we conducted a whole genome linkage scan for four femoral neck cross-sectional geometric variables in 79 multiplex white pedigrees. Materials and Methods: A total of 1816 subjects from 79 pedigrees were genotyped with 451 microsatellite markers across the human genome. We performed linkage analyses on the entire data, as well as on men and women separately. Results: Significant linkage evidence was identified at 10q26 for buckling ratio (LOD = 3.27) and Xp11 (LOD = 3.45) for cortical thickness. Chromosome region 20p12-q12 showed suggestive linkage with cross-sectional area (LOD = 2.33), cortical thickness (LOD = 2.09), and buckling ratio (LOD = 1.94). Sex-specific linkage analyses further supported the importance of 20p12-q12 for cortical thickness (LOD = 2.74 in females and LOD = 1.88 in males) and buckling ratio (LOD = 5.00 in females and LOD = 3.18 in males). Conclusions: This study is the first genome-wide linkage scan searching for quantitative trait loci underlying femoral neck cross-sectional geometry in humans. The identification of the genes responsible for bone geometric variation will improve our knowledge of bone strength and aid in development of diagnostic approaches and interventions for osteoporotic fractures.

Original languageEnglish (US)
Pages (from-to)1973-1982
Number of pages10
JournalJournal of Bone and Mineral Research
Issue number11
StatePublished - Nov 2005


  • Bone geometry
  • Femoral neck
  • Osteoporosis
  • Whole genome linkage scan

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine


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