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Article: The (GT) n polymorphism and haplotype of the COL1A2 gene, but not the (AAAG) n polymorphism of the PTHR1 gene, are associated with bone mineral density in Chinese

TitleThe (GT) n polymorphism and haplotype of the COL1A2 gene, but not the (AAAG) n polymorphism of the PTHR1 gene, are associated with bone mineral density in Chinese
Authors
Issue Date2005
PublisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Citation
Human Genetics, 2005, v. 116 n. 3, p. 200-207 How to Cite?
AbstractCollagen type I α2 (COL1A2) and parathyroid hormone (PTH)/PTH-related peptide receptor (PTHR1) are two prominent candidate genes for bone mineral density (BMD). To test their importance for BMD variation in Chinese, we recruited 388 nuclear families composed of both parents and at least one healthy daughter with a total of 1,220 individuals, and simultaneously analyzed population stratification, total-family association, and within-family association between BMD at the spine and hip and the (GT) n marker in the intron 1 of the COL1A2 gene and the (AAAG) n marker in the P3 promoter of PTHR1 gene. We also performed these association analyses with haplotypes of the MspI and (GT) n polymorphisms in the COL1A2 gene. Significant within-family association was found between the M(GT) 12 haplotype and trochanter BMD (P <0.001). Individuals with this haplotype have, on average, 9.53% lower trochanter BMD than the non-carriers. Suggestive evidence of the within-family association was detected between the (GT) 17 allele and BMD at the spine (P =0.012), hip (P =0.011), femoral neck (P =0.032), trochanter (P =0.023), and intertrochanter (P =0.034). The association was confirmed by subsequent permutation tests. For the association, the proportion of phenotypic variance explained by the detected markers ranged from 1.2 to 3.9%, with the highest 3.9% at the trochanter for the M(GT) 12 haplotype. This association indicates that there is strong linkage disequilibrium between the polymorphisms (MspI and GT repeat polymorphism) in the COL1A2 gene and a nearby quantitative trait locus (QTL) underlying BMD variation in Chinese, or the markers themselves may have an important effect on the variation of BMD. On the other hand, no significant within-family association, population stratification and total-family association between the PTHR1 polymorphism and BMD were found in our Chinese population. © Springer-Verlag 2004.
Persistent Identifierhttp://hdl.handle.net/10722/178852
ISSN
2015 Impact Factor: 5.138
2015 SCImago Journal Rankings: 2.931
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLei, SFen_US
dc.contributor.authorDeng, FYen_US
dc.contributor.authorDvornyk, Ven_US
dc.contributor.authorLiu, MYen_US
dc.contributor.authorXiao, SMen_US
dc.contributor.authorJiang, DKen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2012-12-19T09:50:10Z-
dc.date.available2012-12-19T09:50:10Z-
dc.date.issued2005en_US
dc.identifier.citationHuman Genetics, 2005, v. 116 n. 3, p. 200-207en_US
dc.identifier.issn0340-6717en_US
dc.identifier.urihttp://hdl.handle.net/10722/178852-
dc.description.abstractCollagen type I α2 (COL1A2) and parathyroid hormone (PTH)/PTH-related peptide receptor (PTHR1) are two prominent candidate genes for bone mineral density (BMD). To test their importance for BMD variation in Chinese, we recruited 388 nuclear families composed of both parents and at least one healthy daughter with a total of 1,220 individuals, and simultaneously analyzed population stratification, total-family association, and within-family association between BMD at the spine and hip and the (GT) n marker in the intron 1 of the COL1A2 gene and the (AAAG) n marker in the P3 promoter of PTHR1 gene. We also performed these association analyses with haplotypes of the MspI and (GT) n polymorphisms in the COL1A2 gene. Significant within-family association was found between the M(GT) 12 haplotype and trochanter BMD (P <0.001). Individuals with this haplotype have, on average, 9.53% lower trochanter BMD than the non-carriers. Suggestive evidence of the within-family association was detected between the (GT) 17 allele and BMD at the spine (P =0.012), hip (P =0.011), femoral neck (P =0.032), trochanter (P =0.023), and intertrochanter (P =0.034). The association was confirmed by subsequent permutation tests. For the association, the proportion of phenotypic variance explained by the detected markers ranged from 1.2 to 3.9%, with the highest 3.9% at the trochanter for the M(GT) 12 haplotype. This association indicates that there is strong linkage disequilibrium between the polymorphisms (MspI and GT repeat polymorphism) in the COL1A2 gene and a nearby quantitative trait locus (QTL) underlying BMD variation in Chinese, or the markers themselves may have an important effect on the variation of BMD. On the other hand, no significant within-family association, population stratification and total-family association between the PTHR1 polymorphism and BMD were found in our Chinese population. © Springer-Verlag 2004.en_US
dc.languageengen_US
dc.publisherSpringer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htmen_US
dc.relation.ispartofHuman Geneticsen_US
dc.subject.meshAdulten_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBone Density - Geneticsen_US
dc.subject.meshCollagen - Geneticsen_US
dc.subject.meshCollagen Type Ien_US
dc.subject.meshFemaleen_US
dc.subject.meshHaplotypesen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshReceptor, Parathyroid Hormone, Type 1 - Geneticsen_US
dc.titleThe (GT) n polymorphism and haplotype of the COL1A2 gene, but not the (AAAG) n polymorphism of the PTHR1 gene, are associated with bone mineral density in Chineseen_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.doi10.1007/s00439-004-1225-4en_US
dc.identifier.pmid15599596-
dc.identifier.scopuseid_2-s2.0-12944255637en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-12944255637&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume116en_US
dc.identifier.issue3en_US
dc.identifier.spage200en_US
dc.identifier.epage207en_US
dc.identifier.isiWOS:000226556800010-
dc.publisher.placeGermanyen_US
dc.identifier.scopusauthoridLei, SF=7102453442en_US
dc.identifier.scopusauthoridDeng, FY=19640145800en_US
dc.identifier.scopusauthoridDvornyk, V=6701789786en_US
dc.identifier.scopusauthoridLiu, MY=37065486200en_US
dc.identifier.scopusauthoridXiao, SM=7402022586en_US
dc.identifier.scopusauthoridJiang, DK=55344961200en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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