Article
In vitro functional assay of alleles and haplotypes of two COL1A1-promoter SNPs.
Bone - 1 May 2005
García-Giralt Natàlia, Enjuanes Anna, Bustamante Mariona, Mellibovsky Leonardo, Nogués Xavier, Carreras Ramón, Díez-Pérez Adolfo, Grinberg Daniel, Balcells Susana
Abstract excerpt
Osteoporosis is a common disease with a strong genetic component. We previously described two polymorphic sites in the COL1A1 gene promoter, -1997 G/T and -1663indelT, which have been associated with bone mineral density (BMD), a surrogate trait for osteoporosis. Here, we explore the molecular mechanisms underlying this association by performing transient transfections in MG-63 cells of constructs bearing...
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