A follow-up linkage study for bone size variation in an extended sample

Fu Hua Xu, Yong Jun Liu, Hongyi Deng, Qing Yang Huang, Lan Juan Zhao, Hui Shen, Yao Zhong Liu, Volodymyr Dvornyk, Theresa Conway, Jin Long Li, K. Michael Davies, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticlepeer-review

9 Scopus citations


Bone size, which has strong genetic determination, is an important determinant of bone strength and a risk factor of osteoporotic fractures. We previously reported an approximately 10-cm genome-wide linkage scan in 630 subjects from 53 US Caucasian pedigrees. The strongest evidence of linkage was obtained on chromosome 17q22 near the marker D17S787, with a two-point LOD score of 3.98 and a multipoint maximum LOD score (MLS) of 3.01. Additionally, suggestive linkages (1.54 <MLS <2.83) were found at the other four chromosomal regions. In the present study, with an attempt to further examine our previous findings, we perform a follow-up linkage analysis in an expanded sample of 79 pedigrees with 1816 subjects. The total sample contains >80,000 informative relative pairs for linkage analyses, including 3846 sib pairs. Fifteen markers covering the above five promising regions are genotyped, narrowing the average genomic distance from approximately 10 to 5 cm. In the total 79 pedigrees, support of linkage was achieved for the wrist bone size at 17q22 with a two-point LOD score of 2.27 (P = 0.0006) and MLS of 1.78 (P = 0.002). The genomic region 17q22 includes COL1A1, a strong candidate gene that is significantly associated with osteoporotic fracture risk. Our data suggest that this region is promising for further exploratory studies.

Original languageEnglish (US)
Pages (from-to)777-784
Number of pages8
Issue number3
StatePublished - Sep 2004

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Histology
  • Physiology


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