Polymorphisms in the 5 ' flank of COL1A1 gene and osteoporosis: meta-analysis of published studies

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dc.contributor.authorJin, H.en
dc.contributor.authorEvangelou, E.en
dc.contributor.authorIoannidis, J. P. A.en
dc.contributor.authorRalston, S. H.en
dc.date.accessioned2015-11-24T18:38:33Z
dc.date.available2015-11-24T18:38:33Z
dc.identifier.issn0937-941X-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/17358
dc.rightsDefault Licence-
dc.subjectbmden
dc.subjectcol1a1en
dc.subjectfractureen
dc.subjectgeneticen
dc.subjectmeta-analysisen
dc.subjectosteoporosisen
dc.subjectpolymorphismen
dc.subjectbone-mineral densityen
dc.subjectsp1 binding-siteen
dc.subjectvitamin-d-receptoren
dc.subjectupstream regulatory regionen
dc.subjectintron 1 polymorphismsen
dc.subjectlarge-scale analysisen
dc.subjecti alpha-1 geneen
dc.subjectpostmenopausal womenen
dc.subjectcolia1 geneen
dc.subjecti-alpha-1 geneen
dc.titlePolymorphisms in the 5 ' flank of COL1A1 gene and osteoporosis: meta-analysis of published studiesen
heal.abstractA meta-analysis of studies was conducted involving 24,511 participants with 7,864 fractures in which polymorphisms in the 5' flank of COL1A1 (rs1107946, rs2412298, and rs1800012) were related to osteoporosis phenotypes. Polymorphisms of all three sites were associated with BMD, and rs1800012 was associated with fracture but effect sizes were modest. Introduction and hypothesis Polymorphisms in the 5' flank of COL1A1 gene have been implicated as genetic markers for susceptibility to osteoporosis, but previous studies have yielded conflicting results. Methods We conducted a meta-analysis of 32 studies including 24,511 participants and 7,864 fractures in which alleles at the -1997G/T (rs1107946), -1663in/delT (rs2412298), and Sp1 binding site polymorphisms (rs1800012) of COL1A1 had been related to bone mineral density (BMD) or fracture. Results For the Sp1 polymorphism, BMD values in TT homozygotes were 0.13 units [95% CI, 0.03 to 0.24] lower at the spine (p=0.01) and 0.16 units [0.10 to 0.23] lower at the hip (p 1 x 10(-6)) than GG homozygotes. Clinical fractures were 1.31-fold [1.04-1.65] increased in TT homozygotes (p=0.02) and vertebral fractures were 1.34-fold [1.01-1.77] increased (p=0.04). We also observed associations between spine BMD and allelic variants at the -1997G/T (p=0.05) and the -1663indelT (p=0.009) sites. We found no association between alleles at the -1997G/T or -1663indelT sites and fracture but power was limited. Conclusions The COL1A1 Sp1 polymorphism is associated with a modest reduction in BMD and an increased risk of fracture, although we cannot fully exclude the possibility that the results may have been influenced by publication bias. Further studies are required to fully evaluate the contribution of the -1997G/T and -1663in/delT sites to these phenotypes and to determine if they interact with the Sp1 polymorphism to regulate susceptibility to osteoporosis.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primaryDOI 10.1007/s00198-010-1364-5-
heal.identifier.secondary<Go to ISI>://000287101600018-
heal.identifier.secondaryhttp://www.springerlink.com/content/h0xw4675uq033437/fulltext.pdf-
heal.journalNameOsteoporosis Internationalen
heal.journalTypepeer reviewed-
heal.languageen-
heal.publicationDate2011-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών και Τεχνολογιών. Τμήμα Βιολογικών Εφαρμογών και Τεχνολογιώνel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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