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

TitleMapping quantitative trait loci for cross-sectional geometry at the femoral neck
Authors
Issue Date2005
PublisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.html
Citation
Journal Of Bone And Mineral Research, 2005, v. 20 n. 11, p. 1973-1982 How to Cite?
AbstractA 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. © 2005 American Society for Bone and Mineral Research.
Persistent Identifierhttp://hdl.handle.net/10722/178909
ISSN
2015 Impact Factor: 5.622
2015 SCImago Journal Rankings: 2.773
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorShen, Hen_US
dc.contributor.authorLong, JRen_US
dc.contributor.authorXiong, DHen_US
dc.contributor.authorLiu, YJen_US
dc.contributor.authorLiu, YZen_US
dc.contributor.authorXiao, Pen_US
dc.contributor.authorZhao, LJen_US
dc.contributor.authorDvornyk, Ven_US
dc.contributor.authorZhang, YYen_US
dc.contributor.authorRochaSanchez, Sen_US
dc.contributor.authorLiu, PYen_US
dc.contributor.authorLi, JLen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2012-12-19T09:50:40Z-
dc.date.available2012-12-19T09:50:40Z-
dc.date.issued2005en_US
dc.identifier.citationJournal Of Bone And Mineral Research, 2005, v. 20 n. 11, p. 1973-1982en_US
dc.identifier.issn0884-0431en_US
dc.identifier.urihttp://hdl.handle.net/10722/178909-
dc.description.abstractA 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. © 2005 American Society for Bone and Mineral Research.en_US
dc.languageengen_US
dc.publisherAmerican Society for Bone and Mineral Research. The Journal's web site is located at http://www.jbmr.org/view/0/index.htmlen_US
dc.relation.ispartofJournal of Bone and Mineral Researchen_US
dc.subject.meshAbsorptiometry, Photonen_US
dc.subject.meshAdulten_US
dc.subject.meshAge Factorsen_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 10 - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 20 - Geneticsen_US
dc.subject.meshChromosomes, Human, X - Geneticsen_US
dc.subject.meshEuropean Continental Ancestry Group - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFemur Neck - Anatomy & Histologyen_US
dc.subject.meshGenetic Linkage - Geneticsen_US
dc.subject.meshGenome, Humanen_US
dc.subject.meshHumansen_US
dc.subject.meshLod Scoreen_US
dc.subject.meshMaleen_US
dc.subject.meshMicrosatellite Repeats - Geneticsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPedigreeen_US
dc.subject.meshPrincipal Component Analysisen_US
dc.subject.meshQuantitative Trait Loci - Geneticsen_US
dc.subject.meshSex Factorsen_US
dc.titleMapping quantitative trait loci for cross-sectional geometry at the femoral necken_US
dc.typeArticleen_US
dc.identifier.emailDvornyk, V: dvornyk@hku.hken_US
dc.identifier.authorityDvornyk, V=rp00693en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1359/JBMR.050715en_US
dc.identifier.pmid16234971-
dc.identifier.scopuseid_2-s2.0-27444437567en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-27444437567&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume20en_US
dc.identifier.issue11en_US
dc.identifier.spage1973en_US
dc.identifier.epage1982en_US
dc.identifier.isiWOS:000232761800011-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridShen, H=36126870600en_US
dc.identifier.scopusauthoridLong, JR=7403446542en_US
dc.identifier.scopusauthoridXiong, DH=7007033697en_US
dc.identifier.scopusauthoridLiu, YJ=36065513000en_US
dc.identifier.scopusauthoridLiu, YZ=7410227746en_US
dc.identifier.scopusauthoridXiao, P=34573749200en_US
dc.identifier.scopusauthoridZhao, LJ=7404455505en_US
dc.identifier.scopusauthoridDvornyk, V=6701789786en_US
dc.identifier.scopusauthoridZhang, YY=12781205700en_US
dc.identifier.scopusauthoridRochaSanchez, S=6508079951en_US
dc.identifier.scopusauthoridLiu, PY=7404618030en_US
dc.identifier.scopusauthoridLi, JL=7410075530en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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