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Article: A genome-wide linkage scan for bone mineral density in an extended sample: Evidence for linkage on 11q23 and Xq27

TitleA genome-wide linkage scan for bone mineral density in an extended sample: Evidence for linkage on 11q23 and Xq27
Authors
Issue Date2004
PublisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/
Citation
Journal Of Medical Genetics, 2004, v. 41 n. 10, p. 743-751 How to Cite?
AbstractBackground: Osteoporosis is a major public health problem, mainly quantified by low bone mineral density (BMD). The majority of BMD variation is determined by genetic effects. A pilot whole genome linkage scan (WGS) was previously reported in 53 white pedigrees with 630 subjects. Several genomic regions were suggested to be linked to BMD variation. Objective: To substantiate these previous findings and detect new genomic regions. Methods: A WGS was conducted on an extended sample where the size was almost tripled (1816 subjects from 79 pedigrees). All the subjects were genotyped with 451 microsatellite markers spaced ∼8.1 cM apart across the human genome. Two point and multipoint linkage analyses were carried out using the variance component method. Results: The strongest linkage signal was obtained on Xq27 with two point LOD scores of 4.30 for wrist BMD, and 2.57 for hip BMD, respectively. Another important region was 11q23, which achieved a maximum LOD score of 3.13 for spine BMD in multipoint analyses, confirming the results on this region in two earlier independent studies. Suggestive linkage evidence was also found on 7p14 and 20p12. Conclusions: Together with the findings from other studies, the current study has further delineated the genetic basis of bone mass and highlights the importance of increasing sample size to confirm linkage findings and to identify new regions of linkage.
Persistent Identifierhttp://hdl.handle.net/10722/179123
ISSN
2015 Impact Factor: 5.65
2015 SCImago Journal Rankings: 3.820
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorShen, Hen_US
dc.contributor.authorZhang, YYen_US
dc.contributor.authorLong, JRen_US
dc.contributor.authorXu, FHen_US
dc.contributor.authorLiu, YZen_US
dc.contributor.authorXiao, Pen_US
dc.contributor.authorZhao, LJen_US
dc.contributor.authorXiong, DHen_US
dc.contributor.authorLiu, YJen_US
dc.contributor.authorDvornyk, Ven_US
dc.contributor.authorRochaSanchez, Sen_US
dc.contributor.authorLiu, PYen_US
dc.contributor.authorLi, JLen_US
dc.contributor.authorConway, Ten_US
dc.contributor.authorDavies, KMen_US
dc.contributor.authorRecker, RRen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2012-12-19T09:52:09Z-
dc.date.available2012-12-19T09:52:09Z-
dc.date.issued2004en_US
dc.identifier.citationJournal Of Medical Genetics, 2004, v. 41 n. 10, p. 743-751en_US
dc.identifier.issn0022-2593en_US
dc.identifier.urihttp://hdl.handle.net/10722/179123-
dc.description.abstractBackground: Osteoporosis is a major public health problem, mainly quantified by low bone mineral density (BMD). The majority of BMD variation is determined by genetic effects. A pilot whole genome linkage scan (WGS) was previously reported in 53 white pedigrees with 630 subjects. Several genomic regions were suggested to be linked to BMD variation. Objective: To substantiate these previous findings and detect new genomic regions. Methods: A WGS was conducted on an extended sample where the size was almost tripled (1816 subjects from 79 pedigrees). All the subjects were genotyped with 451 microsatellite markers spaced ∼8.1 cM apart across the human genome. Two point and multipoint linkage analyses were carried out using the variance component method. Results: The strongest linkage signal was obtained on Xq27 with two point LOD scores of 4.30 for wrist BMD, and 2.57 for hip BMD, respectively. Another important region was 11q23, which achieved a maximum LOD score of 3.13 for spine BMD in multipoint analyses, confirming the results on this region in two earlier independent studies. Suggestive linkage evidence was also found on 7p14 and 20p12. Conclusions: Together with the findings from other studies, the current study has further delineated the genetic basis of bone mass and highlights the importance of increasing sample size to confirm linkage findings and to identify new regions of linkage.en_US
dc.languageengen_US
dc.publisherBMJ Group. The Journal's web site is located at http://jmg.bmj.com/en_US
dc.relation.ispartofJournal of Medical Geneticsen_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshChromosomes, Human, Pair 11 - Geneticsen_US
dc.subject.meshChromosomes, Human, X - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkage - Geneticsen_US
dc.subject.meshGenome, Humanen_US
dc.subject.meshGenomicsen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshLod Scoreen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPedigreeen_US
dc.titleA genome-wide linkage scan for bone mineral density in an extended sample: Evidence for linkage on 11q23 and Xq27en_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.doi10.1136/jmg.2004.020396en_US
dc.identifier.pmid15466007-
dc.identifier.scopuseid_2-s2.0-6344265517en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-6344265517&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume41en_US
dc.identifier.issue10en_US
dc.identifier.spage743en_US
dc.identifier.epage751en_US
dc.identifier.isiWOS:000224230500004-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridShen, H=36126870600en_US
dc.identifier.scopusauthoridZhang, YY=12781205700en_US
dc.identifier.scopusauthoridLong, JR=7403446542en_US
dc.identifier.scopusauthoridXu, FH=7401695313en_US
dc.identifier.scopusauthoridLiu, YZ=7410227746en_US
dc.identifier.scopusauthoridXiao, P=34573749200en_US
dc.identifier.scopusauthoridZhao, LJ=7404455505en_US
dc.identifier.scopusauthoridXiong, DH=7007033697en_US
dc.identifier.scopusauthoridLiu, YJ=36065513000en_US
dc.identifier.scopusauthoridDvornyk, V=6701789786en_US
dc.identifier.scopusauthoridRochaSanchez, S=6508079951en_US
dc.identifier.scopusauthoridLiu, PY=7404618030en_US
dc.identifier.scopusauthoridLi, JL=7410075530en_US
dc.identifier.scopusauthoridConway, T=7101933762en_US
dc.identifier.scopusauthoridDavies, KM=8094376800en_US
dc.identifier.scopusauthoridRecker, RR=7007086875en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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