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Article: The -1997 G/T polymorphism in the COLIA1 upstream regulatory region is associated with hip bone mineral density (BMD) in Chinese nuclear families

TitleThe -1997 G/T polymorphism in the COLIA1 upstream regulatory region is associated with hip bone mineral density (BMD) in Chinese nuclear families
Authors
Issue Date2005
PublisherSpringer New York LLC. The Journal's web site is located at http://link.springer.de/link/service/journals/00223
Citation
Calcified Tissue International, 2005, v. 76 n. 2, p. 107-112 How to Cite?
AbstractType I collagen is the most abundant protein of bone matrix, and the collagen type I alpha 1(COLIA1) gene has been considered one of the most important candidate genes for osteoporosis. In this study, we simultaneously tested linkage and/or association of the -1997 G/T polymorphism in the COLIA1 upstream regulatory region with the variation of bone mineral density (BMD) in 1263 subjects from 402 Chinese nuclear families, consisted of both parents and at least one healthy female offspring from 20 to 45 years of age. All the subjects were genotyped by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). BMD of the lumbar spine (L1-L4) and hip (respective and combined phenotype of the femoral neck, trochanter, and intertrochanter) was measured by dual-energy X-ray absorptiometry (DXA). By using the tests implemented in program QTDT (quantitative transmission disequilibrium test), we found significant within-family association (via TDT) between the -1997 G/T polymorphism with BMD variation at all the hip sites (respective and combined phenotypes, P < 0.05). The amount of BMD variation explained by the -1997G/T polymorphism was 1.6%, 2.0%, 1.2%, and 1.3% at the total hip, femoral neck, trochanter, and intertrochanter, respectively. Because of the limited number of sib pairs in this sample, we did not find evidence of linkage. In summary, the -1997 G/T polymorphism in the COLIA1 gene is likely to be in linkage disequilibrium with a nearby functional polymorphism affecting hip BMD, or the -1997 G/T polymorphism itself may have an important effect on the variation of hip BMD in our Chinese sample. © 2004 Springer Science+Business Media, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/181194
ISSN
2015 Impact Factor: 3.052
2015 SCImago Journal Rankings: 1.166
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorZhang, YYen_US
dc.contributor.authorLei, SFen_US
dc.contributor.authorMo, XYen_US
dc.contributor.authorWang, YBen_US
dc.contributor.authorLi, MXen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2013-02-21T02:02:41Z-
dc.date.available2013-02-21T02:02:41Z-
dc.date.issued2005en_US
dc.identifier.citationCalcified Tissue International, 2005, v. 76 n. 2, p. 107-112en_US
dc.identifier.issn0171-967Xen_US
dc.identifier.urihttp://hdl.handle.net/10722/181194-
dc.description.abstractType I collagen is the most abundant protein of bone matrix, and the collagen type I alpha 1(COLIA1) gene has been considered one of the most important candidate genes for osteoporosis. In this study, we simultaneously tested linkage and/or association of the -1997 G/T polymorphism in the COLIA1 upstream regulatory region with the variation of bone mineral density (BMD) in 1263 subjects from 402 Chinese nuclear families, consisted of both parents and at least one healthy female offspring from 20 to 45 years of age. All the subjects were genotyped by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). BMD of the lumbar spine (L1-L4) and hip (respective and combined phenotype of the femoral neck, trochanter, and intertrochanter) was measured by dual-energy X-ray absorptiometry (DXA). By using the tests implemented in program QTDT (quantitative transmission disequilibrium test), we found significant within-family association (via TDT) between the -1997 G/T polymorphism with BMD variation at all the hip sites (respective and combined phenotypes, P < 0.05). The amount of BMD variation explained by the -1997G/T polymorphism was 1.6%, 2.0%, 1.2%, and 1.3% at the total hip, femoral neck, trochanter, and intertrochanter, respectively. Because of the limited number of sib pairs in this sample, we did not find evidence of linkage. In summary, the -1997 G/T polymorphism in the COLIA1 gene is likely to be in linkage disequilibrium with a nearby functional polymorphism affecting hip BMD, or the -1997 G/T polymorphism itself may have an important effect on the variation of hip BMD in our Chinese sample. © 2004 Springer Science+Business Media, Inc.en_US
dc.languageengen_US
dc.publisherSpringer New York LLC. The Journal's web site is located at http://link.springer.de/link/service/journals/00223en_US
dc.relation.ispartofCalcified Tissue Internationalen_US
dc.subject.meshAdulten_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshChinaen_US
dc.subject.meshCollagen Type I - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshFemur - Metabolism - Radiographyen_US
dc.subject.meshGene Expressionen_US
dc.subject.meshGenetic Linkageen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshHumansen_US
dc.subject.meshLinkage Disequilibriumen_US
dc.subject.meshLumbar Vertebrae - Metabolism - Radiographyen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshNuclear Familyen_US
dc.subject.meshOsteoporosis - Ethnology - Genetics - Metabolismen_US
dc.subject.meshPoint Mutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshRegulatory Sequences, Nucleic Acid - Geneticsen_US
dc.titleThe -1997 G/T polymorphism in the COLIA1 upstream regulatory region is associated with hip bone mineral density (BMD) 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.doi10.1007/s00223-004-0110-4en_US
dc.identifier.pmid15570401-
dc.identifier.scopuseid_2-s2.0-18444407450en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-18444407450&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume76en_US
dc.identifier.issue2en_US
dc.identifier.spage107en_US
dc.identifier.epage112en_US
dc.identifier.isiWOS:000227351600004-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridZhang, YY=18234350100en_US
dc.identifier.scopusauthoridLei, SF=7102453442en_US
dc.identifier.scopusauthoridMo, XY=7102096615en_US
dc.identifier.scopusauthoridWang, YB=9038019100en_US
dc.identifier.scopusauthoridLi, MX=17135391100en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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