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Article: Tests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear families

TitleTests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear families
Authors
Issue Date2003
PublisherElsevier Inc. The Journal's web site is located at http://www.elsevier.com/locate/bone
Citation
Bone, 2003, v. 33 n. 4, p. 614-619 How to Cite?
AbstractIn the present study, we simultaneously test linkage and/or association of the collagen type I α 2 (COL1A2) gene with bone mineral density (BMD) and bone area. A total of 1280 subjects from 407 Chinese nuclear families (including both parents and their daughters) were genotyped for an intragenic marker MspI in the COL1A2 gene. BMD and bone area at the lumbar spine and hip were measured by dual-energy X-ray absorptiometry. Applying the QTDT (quantitative transmission disequilibrium test) program, we performed tests for population stratification, within-family association (via transmission disequilibrium test), total association, linkage, and linkage while modeling association. Significant or marginal within-family associations were found with BMD at the lumbar spine (P = 0.013), trochanter (P = 0.004), and total hip (P = 0.053) and with bone area at the intertrochanteric region (P = 0.024) and total hip (P = 0.048). The positive associations were confirmed in permutations except for bone area at total hip (P > 0.10). A small proportion (<1%) of the population variance of bone phenotypes can be explained by the MspI polymorphism; however, it may be underestimated given the significant population stratification detected in our sample. Due to the limited number of sib pairs in this sample, we did not find evidence of linkage. In summary, the MspI polymorphism is likely to be in linkage disequilibrium with a nearby functional mutation affecting BMD and bone area. © 2003 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/181189
ISSN
2015 Impact Factor: 3.736
2015 SCImago Journal Rankings: 1.752
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorDeng, FYen_US
dc.contributor.authorLiu, MYen_US
dc.contributor.authorLi, MXen_US
dc.contributor.authorLei, SFen_US
dc.contributor.authorQin, YJen_US
dc.contributor.authorZhou, Qen_US
dc.contributor.authorLiu, YJen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2013-02-21T02:02:37Z-
dc.date.available2013-02-21T02:02:37Z-
dc.date.issued2003en_US
dc.identifier.citationBone, 2003, v. 33 n. 4, p. 614-619en_US
dc.identifier.issn8756-3282en_US
dc.identifier.urihttp://hdl.handle.net/10722/181189-
dc.description.abstractIn the present study, we simultaneously test linkage and/or association of the collagen type I α 2 (COL1A2) gene with bone mineral density (BMD) and bone area. A total of 1280 subjects from 407 Chinese nuclear families (including both parents and their daughters) were genotyped for an intragenic marker MspI in the COL1A2 gene. BMD and bone area at the lumbar spine and hip were measured by dual-energy X-ray absorptiometry. Applying the QTDT (quantitative transmission disequilibrium test) program, we performed tests for population stratification, within-family association (via transmission disequilibrium test), total association, linkage, and linkage while modeling association. Significant or marginal within-family associations were found with BMD at the lumbar spine (P = 0.013), trochanter (P = 0.004), and total hip (P = 0.053) and with bone area at the intertrochanteric region (P = 0.024) and total hip (P = 0.048). The positive associations were confirmed in permutations except for bone area at total hip (P > 0.10). A small proportion (<1%) of the population variance of bone phenotypes can be explained by the MspI polymorphism; however, it may be underestimated given the significant population stratification detected in our sample. Due to the limited number of sib pairs in this sample, we did not find evidence of linkage. In summary, the MspI polymorphism is likely to be in linkage disequilibrium with a nearby functional mutation affecting BMD and bone area. © 2003 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.meshBase Sequenceen_US
dc.subject.meshBone Density - Drug Effectsen_US
dc.subject.meshBone And Bones - Anatomy & Histologyen_US
dc.subject.meshChinaen_US
dc.subject.meshCollagen - Geneticsen_US
dc.subject.meshCollagen Type Ien_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshDeoxyribonuclease Hpaiien_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Variationen_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshNuclear Familyen_US
dc.subject.meshPhenotypeen_US
dc.titleTests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear familiesen_US
dc.typeArticleen_US
dc.identifier.emailLi, MX: mxli@hku.hken_US
dc.identifier.authorityLi, MX=rp01722en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/S8756-3282(03)00234-5en_US
dc.identifier.pmid14555266-
dc.identifier.scopuseid_2-s2.0-0141750662en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0141750662&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume33en_US
dc.identifier.issue4en_US
dc.identifier.spage614en_US
dc.identifier.epage619en_US
dc.identifier.isiWOS:000185990400019-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridDeng, FY=19640145800en_US
dc.identifier.scopusauthoridLiu, MY=37065486200en_US
dc.identifier.scopusauthoridLi, MX=17135391100en_US
dc.identifier.scopusauthoridLei, SF=7102453442en_US
dc.identifier.scopusauthoridQin, YJ=7403100918en_US
dc.identifier.scopusauthoridZhou, Q=7402700311en_US
dc.identifier.scopusauthoridLiu, YJ=36065513000en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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