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Article: Genome scan for QTLs underlying bone size variation at 10 refined skeletal sites: Genetic heterogeneity and the significance of phenotype refinement

TitleGenome scan for QTLs underlying bone size variation at 10 refined skeletal sites: Genetic heterogeneity and the significance of phenotype refinement
Authors
KeywordsLinkage
Osteoporosis
Quantitative Trait Loci
Issue Date2004
Citation
Physiological Genomics, 2004, v. 17, p. 326-331 How to Cite?
AbstractTo identify quantitative trait loci (QTLs) underlying variation in bone size, we conducted a whole-genome linkage scan in 53 pedigrees with 630 subjects using 380 microsatellite markers. Lumbar area 1, 2, 3, and 4 at the spine, femoral neck, trochanter, intertrochanter areas at the hip, ultradistal, mid-distal, and one-third distal areas at the wrist were measured by dual-energy X-ray absorptiometry (DXA), and adjusted for age, height, weight, and sex. Two-point and multipoint linkage analyses were performed for skeletal bone size at each site and their composite measurements using the SOLAR package. Two chromosomal regions (1q22 and 10q21) were identified with significant evidence of linkage (LOD > 4.32) to one-third distal area, and three were identified with suggestive evidence of linkage (LOD > 2.93) to bone size in one skeletal site. Our results indicated that the low power of QTLs mapping for composite phenotypic measurements may result from genetic heterogeneity of complex traits.
Persistent Identifierhttp://hdl.handle.net/10722/181208
ISSN
2015 SCImago Journal Rankings: 1.545
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHuang, QYen_US
dc.contributor.authorXu, FHen_US
dc.contributor.authorShen, Hen_US
dc.contributor.authorDeng, HYen_US
dc.contributor.authorConway, Ten_US
dc.contributor.authorLiu, YJen_US
dc.contributor.authorLiu, YZen_US
dc.contributor.authorLi, JLen_US
dc.contributor.authorLi, MXen_US
dc.contributor.authorDavies, KMen_US
dc.contributor.authorRecker, RRen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2013-02-21T02:02:49Z-
dc.date.available2013-02-21T02:02:49Z-
dc.date.issued2004en_US
dc.identifier.citationPhysiological Genomics, 2004, v. 17, p. 326-331en_US
dc.identifier.issn1531-2267en_US
dc.identifier.urihttp://hdl.handle.net/10722/181208-
dc.description.abstractTo identify quantitative trait loci (QTLs) underlying variation in bone size, we conducted a whole-genome linkage scan in 53 pedigrees with 630 subjects using 380 microsatellite markers. Lumbar area 1, 2, 3, and 4 at the spine, femoral neck, trochanter, intertrochanter areas at the hip, ultradistal, mid-distal, and one-third distal areas at the wrist were measured by dual-energy X-ray absorptiometry (DXA), and adjusted for age, height, weight, and sex. Two-point and multipoint linkage analyses were performed for skeletal bone size at each site and their composite measurements using the SOLAR package. Two chromosomal regions (1q22 and 10q21) were identified with significant evidence of linkage (LOD > 4.32) to one-third distal area, and three were identified with suggestive evidence of linkage (LOD > 2.93) to bone size in one skeletal site. Our results indicated that the low power of QTLs mapping for composite phenotypic measurements may result from genetic heterogeneity of complex traits.en_US
dc.languageengen_US
dc.relation.ispartofPhysiological Genomicsen_US
dc.subjectLinkageen_US
dc.subjectOsteoporosisen_US
dc.subjectQuantitative Trait Locien_US
dc.titleGenome scan for QTLs underlying bone size variation at 10 refined skeletal sites: Genetic heterogeneity and the significance of phenotype refinementen_US
dc.typeArticleen_US
dc.identifier.emailHuang, QY: qyhuang@hotmail.comen_US
dc.identifier.emailLi, MX: mxli@hku.hken_US
dc.identifier.authorityHuang, QY=rp00521en_US
dc.identifier.authorityLi, MX=rp01722en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1152/physiolgenomics.00161.2002en_US
dc.identifier.pmid15039485-
dc.identifier.scopuseid_2-s2.0-3042722170en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-3042722170&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume17en_US
dc.identifier.spage326en_US
dc.identifier.epage331en_US
dc.identifier.isiWOS:000222088900009-
dc.identifier.scopusauthoridHuang, QY=7403630787en_US
dc.identifier.scopusauthoridXu, FH=7401695313en_US
dc.identifier.scopusauthoridShen, H=36126870600en_US
dc.identifier.scopusauthoridDeng, HY=7401775454en_US
dc.identifier.scopusauthoridConway, T=7101933762en_US
dc.identifier.scopusauthoridLiu, YJ=36065513000en_US
dc.identifier.scopusauthoridLiu, YZ=7410227746en_US
dc.identifier.scopusauthoridLi, JL=7410075530en_US
dc.identifier.scopusauthoridLi, MX=17135391100en_US
dc.identifier.scopusauthoridDavies, KM=8094376800en_US
dc.identifier.scopusauthoridRecker, RR=7007086875en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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