A bivariate whole genome linkage study identified genomic regions influencing both BMD and bone structure. J Bone Miner Res 2008 Nov;23(11):1806-14
Date
07/04/2008Pubmed ID
18597637Pubmed Central ID
PMC2685488DOI
10.1359/jbmr.080614Scopus ID
2-s2.0-54349097569 (requires institutional sign-in at Scopus site) 12 CitationsAbstract
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.
Author List
Liu XG, Liu YJ, Liu J, Pei Y, Xiong DH, Shen H, Deng HY, Papasian CJ, Drees BM, Hamilton JJ, Recker RR, Deng HWMESH terms used to index this publication - Major topics in bold
Bone DensityBone and Bones
Chromosomes, Human, X
Computational Biology
Genetic Linkage
Genome, Human
Humans
Inheritance Patterns
Middle Aged
Phenotype
