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Article: Genetic dissection of human stature in a large sample of multiplex pedigrees

TitleGenetic dissection of human stature in a large sample of multiplex pedigrees
Authors
Issue Date2004
PublisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG
Citation
Annals Of Human Genetics, 2004, v. 68 n. 5, p. 472-488 How to Cite?
AbstractRecently, we reported a whole genome scan on a sample of 630 Caucasian subjects from 53 human pedigrees. Several genomic regions were suggested to be linked to height. In an attempt to confirm the identified genomic regions, as well as to identify new genomic regions linked to height, we conducted a whole genome linkage study on an extended sample of 1,816 subjects from 79 pedigrees, which includes the 53 pedigrees containing the original 630 subjects from our previous whole genome study and an additional 128 new subjects, and 26 further pedigrees containing 1,058 subjects. Several regions achieved suggestive linkage signals, such as 9q22.32 [MLS (multipoint LOD score) = 2.74], 9q34.3 [MLS = 2.66], Xq24 [two-point LOD score = 2.64 at the marker DXS8067], and 7p14.2 [MLS = 2.051. The importance of the above regions is supported either by other whole genome studies or by candidate genes within these regions relevant to linear growth or pathogenesis of short stature. In addition, this study has tentatively confirmed the Xq24 region's linkage to height, as this region was also detected in the previous whole genome study. To date, our study has achieved the largest sample size in the field of genetic linkage studies of human height. Together with the findings of other studies, the current study has further delineated the genetic basis of human stature. © University College London 2004.
Persistent Identifierhttp://hdl.handle.net/10722/179125
ISSN
2015 Impact Factor: 1.889
2015 SCImago Journal Rankings: 1.191
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLiu, YZen_US
dc.contributor.authorXu, FHen_US
dc.contributor.authorShen, Hen_US
dc.contributor.authorLiu, YJen_US
dc.contributor.authorZhao, LJen_US
dc.contributor.authorLong, JRen_US
dc.contributor.authorZhang, YYen_US
dc.contributor.authorXiao, Pen_US
dc.contributor.authorXiong, DHen_US
dc.contributor.authorDvornyk, Ven_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.accessioned2012-12-19T09:52:11Z-
dc.date.available2012-12-19T09:52:11Z-
dc.date.issued2004en_US
dc.identifier.citationAnnals Of Human Genetics, 2004, v. 68 n. 5, p. 472-488en_US
dc.identifier.issn0003-4800en_US
dc.identifier.urihttp://hdl.handle.net/10722/179125-
dc.description.abstractRecently, we reported a whole genome scan on a sample of 630 Caucasian subjects from 53 human pedigrees. Several genomic regions were suggested to be linked to height. In an attempt to confirm the identified genomic regions, as well as to identify new genomic regions linked to height, we conducted a whole genome linkage study on an extended sample of 1,816 subjects from 79 pedigrees, which includes the 53 pedigrees containing the original 630 subjects from our previous whole genome study and an additional 128 new subjects, and 26 further pedigrees containing 1,058 subjects. Several regions achieved suggestive linkage signals, such as 9q22.32 [MLS (multipoint LOD score) = 2.74], 9q34.3 [MLS = 2.66], Xq24 [two-point LOD score = 2.64 at the marker DXS8067], and 7p14.2 [MLS = 2.051. The importance of the above regions is supported either by other whole genome studies or by candidate genes within these regions relevant to linear growth or pathogenesis of short stature. In addition, this study has tentatively confirmed the Xq24 region's linkage to height, as this region was also detected in the previous whole genome study. To date, our study has achieved the largest sample size in the field of genetic linkage studies of human height. Together with the findings of other studies, the current study has further delineated the genetic basis of human stature. © University College London 2004.en_US
dc.languageengen_US
dc.publisherBlackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHGen_US
dc.relation.ispartofAnnals of Human Geneticsen_US
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshBody Height - Geneticsen_US
dc.subject.meshChromosome Mappingen_US
dc.subject.meshChromosomes, Human, X - Geneticsen_US
dc.subject.meshEuropean Continental Ancestry Group - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenomicsen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPedigreeen_US
dc.subject.meshReference Valuesen_US
dc.titleGenetic dissection of human stature in a large sample of multiplex pedigreesen_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.doi10.1046/j.1529-8817.2003.00117.xen_US
dc.identifier.pmid15469424-
dc.identifier.scopuseid_2-s2.0-6444239276en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-6444239276&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume68en_US
dc.identifier.issue5en_US
dc.identifier.spage472en_US
dc.identifier.epage488en_US
dc.identifier.isiWOS:000224686200007-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridLiu, YZ=7410227746en_US
dc.identifier.scopusauthoridXu, FH=7401695313en_US
dc.identifier.scopusauthoridShen, H=36126870600en_US
dc.identifier.scopusauthoridLiu, YJ=36065513000en_US
dc.identifier.scopusauthoridZhao, LJ=7404455505en_US
dc.identifier.scopusauthoridLong, JR=7403446542en_US
dc.identifier.scopusauthoridZhang, YY=12781205700en_US
dc.identifier.scopusauthoridXiao, P=34573749200en_US
dc.identifier.scopusauthoridXiong, DH=7007033697en_US
dc.identifier.scopusauthoridDvornyk, V=6701789786en_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
dc.identifier.citeulike1978929-

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