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Mapping Quantitative Trait Loci for Cross‐Sectional Geometry at the Femoral Neck
Author(s) -
Shen Hui,
Long JiRong,
Xiong DongHai,
Liu YongJun,
Liu YaoZhong,
Xiao Peng,
Zhao LanJuan,
Dvornyk Volodymyr,
Zhang YuanYuan,
RochaSanchez Sonia,
Liu PengYuan,
Li JinLong,
Deng HongWen
Publication year - 2005
Publication title -
journal of bone and mineral research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.882
H-Index - 241
eISSN - 1523-4681
pISSN - 0884-0431
DOI - 10.1359/jbmr.050715
Subject(s) - quantitative trait locus , pedigree chart , femoral neck , genetic linkage , linkage (software) , genetics , trait , biology , gene , osteoporosis , computer science , programming language , endocrinology
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.

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