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Article: Absence of high-risk "s" allele associated with osteoporosis at the intronic SP1 binding-site of collagen Iα1 gene in Southern Chinese

TitleAbsence of high-risk "s" allele associated with osteoporosis at the intronic SP1 binding-site of collagen Iα1 gene in Southern Chinese
Authors
KeywordsBone mineral density
Chinese
COLIA1 gene polymorphisms
Issue Date2001
Citation
Journal Of Endocrinological Investigation, 2001, v. 24 n. 7, p. 499-502 How to Cite?
AbstractThe Sp1 polymorphism in the first intron of the collagen Iα1 gene was recently described to be associated with low bone mineral density (BMD) and increased fracture risk in Caucasian populations. The impact of this gene was assessed in a Southern Chinese population. One hundred and eighty-one women, aged 51.1±8.8 yr were evaluated for the Sp1 polymorphism. Twenty-two per cent of the women were classified as having osteoporosis on the basis of a T-score at the lumbar spine or the hip below -2.5 with or without a prevalent fracture. Genotype analysis was performed by PCR amplification and restriction enzyme digestion. Single-strand conformational polymorphism analysis (SSCP) was performed in 65 randomly selected samples to search for any polymorphic site in the PCR amplified region. The results showed that no restriction enzyme site could be identified in any of the 181 samples analyzed. Moreover, SSCP analysis revealed no polymorphism in the PCR amplified region of the first intron of the collagen Iα1 gene. In conclusion, the "s" allele, associated with low BMD and increased fracture risk in Caucasians, is non-existent or very rare in the Southern Chinese population. The absence of this "high risk" allele may in part account for the reduced fracture risk observed in the Chinese in comparison to Western populations. ©2001, Editrice Kurtis.
Persistent Identifierhttp://hdl.handle.net/10722/162480
ISSN
2023 Impact Factor: 3.9
2023 SCImago Journal Rankings: 1.067
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLambrinoudaki, Ien_US
dc.contributor.authorKung, AWCen_US
dc.date.accessioned2012-09-05T05:20:23Z-
dc.date.available2012-09-05T05:20:23Z-
dc.date.issued2001en_US
dc.identifier.citationJournal Of Endocrinological Investigation, 2001, v. 24 n. 7, p. 499-502en_US
dc.identifier.issn0391-4097en_US
dc.identifier.urihttp://hdl.handle.net/10722/162480-
dc.description.abstractThe Sp1 polymorphism in the first intron of the collagen Iα1 gene was recently described to be associated with low bone mineral density (BMD) and increased fracture risk in Caucasian populations. The impact of this gene was assessed in a Southern Chinese population. One hundred and eighty-one women, aged 51.1±8.8 yr were evaluated for the Sp1 polymorphism. Twenty-two per cent of the women were classified as having osteoporosis on the basis of a T-score at the lumbar spine or the hip below -2.5 with or without a prevalent fracture. Genotype analysis was performed by PCR amplification and restriction enzyme digestion. Single-strand conformational polymorphism analysis (SSCP) was performed in 65 randomly selected samples to search for any polymorphic site in the PCR amplified region. The results showed that no restriction enzyme site could be identified in any of the 181 samples analyzed. Moreover, SSCP analysis revealed no polymorphism in the PCR amplified region of the first intron of the collagen Iα1 gene. In conclusion, the "s" allele, associated with low BMD and increased fracture risk in Caucasians, is non-existent or very rare in the Southern Chinese population. The absence of this "high risk" allele may in part account for the reduced fracture risk observed in the Chinese in comparison to Western populations. ©2001, Editrice Kurtis.en_US
dc.languageengen_US
dc.relation.ispartofJournal of Endocrinological Investigationen_US
dc.subjectBone mineral density-
dc.subjectChinese-
dc.subjectCOLIA1 gene polymorphisms-
dc.subject.meshAdulten_US
dc.subject.meshAgeden_US
dc.subject.meshAged, 80 And Overen_US
dc.subject.meshBinding Sitesen_US
dc.subject.meshBone Densityen_US
dc.subject.meshChina - Epidemiologyen_US
dc.subject.meshCollagen - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGene Frequencyen_US
dc.subject.meshHumansen_US
dc.subject.meshIntrons - Geneticsen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshOsteoporosis - Epidemiology - Geneticsen_US
dc.subject.meshPolymorphism, Genetic - Geneticsen_US
dc.subject.meshRisk Factorsen_US
dc.titleAbsence of high-risk "s" allele associated with osteoporosis at the intronic SP1 binding-site of collagen Iα1 gene in Southern Chineseen_US
dc.typeArticleen_US
dc.identifier.emailKung, AWC:awckung@hku.hken_US
dc.identifier.authorityKung, AWC=rp00368en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/BF03343882-
dc.identifier.pmid11508783-
dc.identifier.scopuseid_2-s2.0-0034917530en_US
dc.identifier.hkuros57617-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034917530&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume24en_US
dc.identifier.issue7en_US
dc.identifier.spage499en_US
dc.identifier.epage502en_US
dc.identifier.isiWOS:000169918600005-
dc.publisher.placeItalyen_US
dc.identifier.scopusauthoridLambrinoudaki, I=6601969370en_US
dc.identifier.scopusauthoridKung, AWC=7102322339en_US
dc.identifier.issnl0391-4097-

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