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Article: A follow-up linkage study for bone size variation in an extended sample

TitleA follow-up linkage study for bone size variation in an extended sample
Authors
Issue Date2004
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/bone
Citation
Bone, 2004, v. 35 n. 3, p. 777-784 How to Cite?
AbstractBone size, which has strong genetic determination, is an important determinant of bone strength and a risk factor of osteoporotic fractures. We previously reported an approximately 10-cm genome-wide linkage scan in 630 subjects from 53 US Caucasian pedigrees. The strongest evidence of linkage was obtained on chromosome 17q22 near the marker D17S787, with a two-point LOD score of 3.98 and a multipoint maximum LOD score (MLS) of 3.01. Additionally, suggestive linkages (1.54 < MLS < 2.83) were found at the other four chromosomal regions. In the present study, with an attempt to further examine our previous findings, we perform a follow-up linkage analysis in an expanded sample of 79 pedigrees with 1816 subjects. The total sample contains >80,000 informative relative pairs for linkage analyses, including 3846 sib pairs. Fifteen markers covering the above five promising regions are genotyped, narrowing the average genomic distance from approximately 10 to 5 cm. In the total 79 pedigrees, support of linkage was achieved for the wrist bone size at 17q22 with a two-point LOD score of 2.27 (P = 0.0006) and MLS of 1.78 (P = 0.002). The genomic region 17q22 includes COL1A1, a strong candidate gene that is significantly associated with osteoporotic fracture risk. Our data suggest that this region is promising for further exploratory studies. © 2004 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/179052
ISSN
2015 Impact Factor: 3.736
2015 SCImago Journal Rankings: 1.752
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorXu, FHen_US
dc.contributor.authorLiu, YJen_US
dc.contributor.authorDeng, Hen_US
dc.contributor.authorHuang, QYen_US
dc.contributor.authorZhao, LJen_US
dc.contributor.authorShen, Hen_US
dc.contributor.authorLiu, YZen_US
dc.contributor.authorDvornyk, Ven_US
dc.contributor.authorConway, Ten_US
dc.contributor.authorLi, JLen_US
dc.contributor.authorDavies, KMen_US
dc.contributor.authorRecker, RRen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2012-12-19T09:51:40Z-
dc.date.available2012-12-19T09:51:40Z-
dc.date.issued2004en_US
dc.identifier.citationBone, 2004, v. 35 n. 3, p. 777-784en_US
dc.identifier.issn8756-3282en_US
dc.identifier.urihttp://hdl.handle.net/10722/179052-
dc.description.abstractBone size, which has strong genetic determination, is an important determinant of bone strength and a risk factor of osteoporotic fractures. We previously reported an approximately 10-cm genome-wide linkage scan in 630 subjects from 53 US Caucasian pedigrees. The strongest evidence of linkage was obtained on chromosome 17q22 near the marker D17S787, with a two-point LOD score of 3.98 and a multipoint maximum LOD score (MLS) of 3.01. Additionally, suggestive linkages (1.54 < MLS < 2.83) were found at the other four chromosomal regions. In the present study, with an attempt to further examine our previous findings, we perform a follow-up linkage analysis in an expanded sample of 79 pedigrees with 1816 subjects. The total sample contains >80,000 informative relative pairs for linkage analyses, including 3846 sib pairs. Fifteen markers covering the above five promising regions are genotyped, narrowing the average genomic distance from approximately 10 to 5 cm. In the total 79 pedigrees, support of linkage was achieved for the wrist bone size at 17q22 with a two-point LOD score of 2.27 (P = 0.0006) and MLS of 1.78 (P = 0.002). The genomic region 17q22 includes COL1A1, a strong candidate gene that is significantly associated with osteoporotic fracture risk. Our data suggest that this region is promising for further exploratory studies. © 2004 Elsevier Inc. All rights reserved.en_US
dc.languageengen_US
dc.publisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/boneen_US
dc.relation.ispartofBoneen_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshBone Development - Geneticsen_US
dc.subject.meshBone And Bones - Physiologyen_US
dc.subject.meshChromosomes, Human, Pair 17 - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollow-Up Studiesen_US
dc.subject.meshGenetic Linkage - Geneticsen_US
dc.subject.meshGenetic Variation - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshLod Scoreen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPedigreeen_US
dc.subject.meshQuantitative Trait Locien_US
dc.titleA follow-up linkage study for bone size variation in an extended sampleen_US
dc.typeArticleen_US
dc.identifier.emailHuang, QY: qyhuang@hotmail.comen_US
dc.identifier.emailDvornyk, V: dvornyk@hku.hken_US
dc.identifier.authorityHuang, QY=rp00521en_US
dc.identifier.authorityDvornyk, V=rp00693en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.bone.2004.05.007en_US
dc.identifier.pmid15336616-
dc.identifier.scopuseid_2-s2.0-4344572530en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-4344572530&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume35en_US
dc.identifier.issue3en_US
dc.identifier.spage777en_US
dc.identifier.epage784en_US
dc.identifier.isiWOS:000224076600027-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridXu, FH=7401695313en_US
dc.identifier.scopusauthoridLiu, YJ=36065513000en_US
dc.identifier.scopusauthoridDeng, H=7401775454en_US
dc.identifier.scopusauthoridHuang, QY=7403630787en_US
dc.identifier.scopusauthoridZhao, LJ=7404455505en_US
dc.identifier.scopusauthoridShen, H=36126870600en_US
dc.identifier.scopusauthoridLiu, YZ=7410227746en_US
dc.identifier.scopusauthoridDvornyk, V=6701789786en_US
dc.identifier.scopusauthoridConway, T=7101933762en_US
dc.identifier.scopusauthoridLi, JL=7410075530en_US
dc.identifier.scopusauthoridDavies, KM=8094376800en_US
dc.identifier.scopusauthoridRecker, RR=7007086875en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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