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Article

A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Mar 2009

Jin Huilin, Stewart Tracy L, Hof Rob Van't, Reid David M, Aspden Richard M, Ralston Stuart

Abstract excerpt

Three polymorphisms have been identified in the 5' regulatory region of the COL1A1 gene at positions -1997 (rs1107946), -1663 (rs2412298), and +1245G/T (rs1800012), which combine to form haplotypes that have been associated with BMD in several populations. These polymorphisms and haplotypes have...

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Share to Biomechanical Phenomena
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Share to Regulatory Sequences, Nucleic Acid

Source

Identifiers

PMID: 19016596
DOI: 10.1359/jbmr.081111

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19016596-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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A rare haplotype in the upstream regulatory region of COL1A1 is associated with reduced bone quality and hip fracture.PMID 19016596Read ↗

COL1A1 haplotypes and hip fracture.Semantic proximity Read ↗

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Association of the COL1A1 gene polymorphisms in Mexican postmenopausal women with fracture or with low bone mineral density at the hip.Semantic proximity Read ↗

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Association of the Sp1 binding site and -1997 promoter variations in COL1A1 with osteoporosis risk: The application of meta-analysis and bioinformatics approaches offers a new perspective for future research.Semantic proximity Read ↗

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Association of collagen type I alpha 1 +1245G/T polymorphism and osteoporosis risk in post-menopausal women: a meta-analysis.Semantic proximity Read ↗

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