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Article

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

Human molecular genetics - 1 Aug 2009

Jin Huilin, van't Hof Rob J, Albagha Omar M E, Ralston Stuart H

Abstract excerpt

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 higher with the osteoporosis-associated G-del-T haplotype compared with the common G-Ins-G haplotype. Gel shift...

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Share to Collagen Type I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19429913
DOI: 10.1093/hmg/ddp205

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis.PMID 19429913Read ↗

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