Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis

Three polymorphisms (−1997G/T; −1663IndelT and +1245G/T) have been identified in the 5′ flank of COL1A1 gene that are associated with osteoporosis but the underlying mechanism is unclear. Here we investigated the functional effects of these variants on COL1A1 transcription. Transcription was 2-fold...

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Veröffentlicht in:	Human molecular genetics 2009-08, Vol.18 (15), p.2729-2738
Hauptverfasser:	Jin, Huilin, van't Hof, Rob J., Albagha, Omar M.E., Ralston, Stuart H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence Biological and medical sciences Bone Density Cell Line, Tumor Collagen Type I - chemistry Collagen Type I - genetics Collagen Type I - metabolism Collagen Type I, alpha 1 Chain Diseases of the osteoarticular system Female Fundamental and applied biological sciences. Psychology Genetic Predisposition to Disease Genetics of eukaryotes. Biological and molecular evolution Humans Introns Medical sciences Molecular and cellular biology Molecular genetics Molecular Sequence Data Osteoporosis - genetics Osteoporosis - metabolism Osteoporosis - physiopathology Osteoporosis. Osteomalacia. Paget disease Polymorphism, Genetic Promoter Regions, Genetic Protein Binding Sp7 Transcription Factor Trans-Activators - genetics Trans-Activators - metabolism Transcription Factors - genetics Transcription Factors - metabolism Transcription, Genetic Transcription. Transcription factor. Splicing. Rna processing
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