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

Shen H, Long JR, Xiong DH, Liu YJ, Liu YZ, Xiao P, Zhao LJ, Dvornyk V, Zhang YY, Rocha-Sanchez S, Liu PY, Li JL, Deng HW
J Bone Miner Res. 2005 20 (11): 1973-82

PMID: 16234971 · DOI:10.1359/JBMR.050715

UNLABELLED - 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.

MeSH Terms (23)

Absorptiometry, Photon Adult Aged Aged, 80 and over Age Factors Bone Density Chromosomes, Human, Pair 10 Chromosomes, Human, Pair 20 Chromosomes, Human, X European Continental Ancestry Group Female Femur Neck Genetic Linkage Genome, Human Humans Lod Score Male Microsatellite Repeats Middle Aged Pedigree Principal Component Analysis Quantitative Trait Loci Sex Factors

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