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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
KeywordsBone size
Extended sample
Genetic linkage
Genome scan
Osteoporosis
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
2023 Impact Factor: 3.5
2023 SCImago Journal Rankings: 1.179
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.subjectBone size-
dc.subjectExtended sample-
dc.subjectGenetic linkage-
dc.subjectGenome scan-
dc.subjectOsteoporosis-
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
dc.identifier.issnl1873-2763-

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