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Article: Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity

TitlePolymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity
Authors
KeywordsAlleles
Bone Mineral Density (Bmd)
Candidate Gene
Genotypes
Polymorphism
Issue Date2003
PublisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/00774/index.htm
Citation
Journal Of Bone And Mineral Metabolism, 2003, v. 21 n. 1, p. 34-42 How to Cite?
AbstractStudies on polymorphisms of candidate genes and their association with bone mineral density (BMD) have been reported in many populations, but few have been reported in Chinese populations. We investigated polymorphisms of the following five commonly used markers of four prominent BMD candidate genes with the purpose of identifying useful genetic markers for osteoporosis genetic research in Chinese: the Sp1 and RsaI polymorphisms of the collagen type 1 alpha 1 (Col1a1) gene, the -174G/C promoter polymorphism of the interleukin 6 (IL-6) gene, the Asn363Ser polymorphism of the glucocorticoid receptor (GR) gene, and the T → C polymorphism in intron 5 of the transforming growth factor β 1 (TGF-β 1) gene. We evaluated these polymorphisms using PCR-RFLP in samples of at least 124 random individuals. We compared the polymorphisms of these five markers with other populations using the χ 2 test and Fisher's exact two-tailed test. For the RsaI polymorphism, only three heterozygotes but no variant homozygote were identified. For the -174G/C polymorphic site, only one GC heterozygote and no CC homozygote were found. Alleles s, Ser, and A 1 at the Sp1, Asn363Ser, and T → C marker sites that have been found to be polymorphic in other populations were not found in Chinese. Significant differences of allele and genotype frequency distributions were observed at these polymorphisms (P < 0.001) after comparing with other populations. Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations. © Springer-Verlag 2003.
Persistent Identifierhttp://hdl.handle.net/10722/178882
ISSN
2015 Impact Factor: 2.312
2015 SCImago Journal Rankings: 0.775
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLei, SFen_US
dc.contributor.authorDeng, FYen_US
dc.contributor.authorLiu, XHen_US
dc.contributor.authorHuang, QRen_US
dc.contributor.authorQin, Yen_US
dc.contributor.authorZhou, Qen_US
dc.contributor.authorJiang, DKen_US
dc.contributor.authorLi, YMen_US
dc.contributor.authorMo, XYen_US
dc.contributor.authorLiu, MYen_US
dc.contributor.authorChen, XDen_US
dc.contributor.authorWu, XSen_US
dc.contributor.authorShen, Hen_US
dc.contributor.authorDvornyk, Ven_US
dc.contributor.authorZhao, Len_US
dc.contributor.authorRecker, RRen_US
dc.contributor.authorDeng, HWen_US
dc.date.accessioned2012-12-19T09:50:23Z-
dc.date.available2012-12-19T09:50:23Z-
dc.date.issued2003en_US
dc.identifier.citationJournal Of Bone And Mineral Metabolism, 2003, v. 21 n. 1, p. 34-42en_US
dc.identifier.issn0914-8779en_US
dc.identifier.urihttp://hdl.handle.net/10722/178882-
dc.description.abstractStudies on polymorphisms of candidate genes and their association with bone mineral density (BMD) have been reported in many populations, but few have been reported in Chinese populations. We investigated polymorphisms of the following five commonly used markers of four prominent BMD candidate genes with the purpose of identifying useful genetic markers for osteoporosis genetic research in Chinese: the Sp1 and RsaI polymorphisms of the collagen type 1 alpha 1 (Col1a1) gene, the -174G/C promoter polymorphism of the interleukin 6 (IL-6) gene, the Asn363Ser polymorphism of the glucocorticoid receptor (GR) gene, and the T → C polymorphism in intron 5 of the transforming growth factor β 1 (TGF-β 1) gene. We evaluated these polymorphisms using PCR-RFLP in samples of at least 124 random individuals. We compared the polymorphisms of these five markers with other populations using the χ 2 test and Fisher's exact two-tailed test. For the RsaI polymorphism, only three heterozygotes but no variant homozygote were identified. For the -174G/C polymorphic site, only one GC heterozygote and no CC homozygote were found. Alleles s, Ser, and A 1 at the Sp1, Asn363Ser, and T → C marker sites that have been found to be polymorphic in other populations were not found in Chinese. Significant differences of allele and genotype frequency distributions were observed at these polymorphisms (P < 0.001) after comparing with other populations. Our results suggest that variant alleles of the five markers are absent or too rare to be useful genetic makers in Chinese, despite the fact that they have been commonly used as polymorphic markers in osteoporosis genetic research in other populations. © Springer-Verlag 2003.en_US
dc.languageengen_US
dc.publisherSpringer Japan. The Journal's web site is located at http://link.springer.de/link/service/journals/00774/index.htmen_US
dc.relation.ispartofJournal of Bone and Mineral Metabolismen_US
dc.subjectAllelesen_US
dc.subjectBone Mineral Density (Bmd)en_US
dc.subjectCandidate Geneen_US
dc.subjectGenotypesen_US
dc.subjectPolymorphismen_US
dc.titlePolymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicityen_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/s007740300006en_US
dc.identifier.pmid12491092-
dc.identifier.scopuseid_2-s2.0-19044365607en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-19044365607&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume21en_US
dc.identifier.issue1en_US
dc.identifier.spage34en_US
dc.identifier.epage42en_US
dc.identifier.isiWOS:000180078100007-
dc.publisher.placeJapanen_US
dc.identifier.scopusauthoridLei, SF=7102453442en_US
dc.identifier.scopusauthoridDeng, FY=19640145800en_US
dc.identifier.scopusauthoridLiu, XH=24577446800en_US
dc.identifier.scopusauthoridHuang, QR=25951408700en_US
dc.identifier.scopusauthoridQin, Y=7403100918en_US
dc.identifier.scopusauthoridZhou, Q=7402700311en_US
dc.identifier.scopusauthoridJiang, DK=55344961200en_US
dc.identifier.scopusauthoridLi, YM=7502098054en_US
dc.identifier.scopusauthoridMo, XY=7102096615en_US
dc.identifier.scopusauthoridLiu, MY=37065486200en_US
dc.identifier.scopusauthoridChen, XD=35487111000en_US
dc.identifier.scopusauthoridWu, XS=8604861100en_US
dc.identifier.scopusauthoridShen, H=36126870600en_US
dc.identifier.scopusauthoridDvornyk, V=6701789786en_US
dc.identifier.scopusauthoridZhao, L=54416739300en_US
dc.identifier.scopusauthoridRecker, RR=7007086875en_US
dc.identifier.scopusauthoridDeng, HW=34568563000en_US

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