Genetic determination of osteoporosis: Lessons learned from a large genome-wide linkage study

Dong Hai Xiong, Jin Tang Wang, Wei Wang, Yan Fang Guo, Peng Xiao, Hui Shen, Hui Jiang, Yuan Chen, Hongyi Deng, Betty Drees, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Osteoporosis is a common disease with strong genetic control. We performed an autosomal linkage scan in a large pedigree-based sample of 4,498 subjects for a composite osteoporosis phenotype that combines osteoporotic fracture (OF) and low bone mineral density (BMD). All of the subjects were U.S. Caucasians recruited in the Omaha area of Nebraska. Sex-specific linkage analyses and autosomal imprinting analyses were also conducted. For conventional linkage analyses in the total sample, we identified suggestive linkage on chromosomes 14q32 (LOD = 2.61), 7p14 (LOD = 2.42), and 11q25 (LOD = 2.09). In female subjects a significant linkage signal was detected on chromosome 14q22 (LOD = 3.53) and another two peaks were detected on chromosomes 7p14 (LOD = 3.07) and 9p21 (LOD = 2.29). Suggestive evidence of imprinted loci was found with paternally derived alleles on chromosomes 1q42 (LOD = 2.12) and 9q34 (LOD = 1.88). Some evidence of linkage to maternally derived alleles was found on chromosome 7q22 (LOD = 1.67). Our study provides new clues to osteoporosis genetic research and for the first time suggests that genomic imprinting effects may play a role in the etiology of osteoporosis.

Original languageEnglish (US)
Pages (from-to)593-608
Number of pages16
JournalHuman Biology
Issue number6
StatePublished - Dec 2007
Externally publishedYes


  • Autosomal linkage scan
  • Bone mineral density
  • Genomic imprinting
  • Osteoporosis
  • Sex-specific linkage analysis

ASJC Scopus subject areas

  • General Medicine


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