A bivariate whole genome linkage study identified genomic regions influencing both BMD and bone structure

Xiao Gang Liu, Yong Jun Liu, Jianfeng Liu, Yufang Pei, Dong Hai Xiong, Hui Shen, Hong Yi Deng, Christopher J. Papasian, Betty M. Drees, James J. Hamilton, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticlepeer-review

12 Scopus citations


Areal BMD (aBMD) and areal bone size (ABS) are biologically correlated traits and are each important determinants of bone strength and risk of fractures. Studies showed that aBMD and ABS are genetically correlated, indicating that they may share some common genetic factors, which, however, are largely unknown. To study the genetic factors influencing both aBMD and ABS, bivariate whole genome linkage analyses were conducted for aBMD-ABS at the femoral neck (FN), lumbar spine (LS), and ultradistal (UD)-forearm in a large sample of 451 white pedigrees made up of 4498 individuals. We detected significant linkage on chromosome Xq27 (LOD = 4.89) for LS aBMD-ABS. In addition, we detected suggestive linkages at 20q11 (LOD = 3.65) and Xp11 (LOD = 2.96) for FN aBMD-ABS; at 12p11 (LOD = 3.39) and 17q21 (LOD = 2.94) for LS aBMD-ABS; and at 5q23 (LOD = 3.54), 7p15 (LOD = 3.45), Xq27 (LOD = 2.93), and 12p11 (LOD = 2.92) for UD-forearm aBMD-ABS. Subsequent discrimination analyses indicated that quantitative trait loci (QTLs) at 12p11 and 17q21 may have pleiotropic effects on aBMD and ABS. This study identified several genomic regions that may contain QTLs important for both aBMD and ABS. Further endeavors are necessary to follow these regions to eventually pinpoint the genetic variants affecting bone strength and risk of fractures.

Original languageEnglish (US)
Pages (from-to)1806-1814
Number of pages9
JournalJournal of Bone and Mineral Research
Issue number11
StatePublished - Nov 2008


  • BMD
  • Bivariate
  • Bone size
  • Bone structure
  • Whole genome linkage scan

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Orthopedics and Sports Medicine


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