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Updated: May 26, 2026
08:43
Imaging of the Microstructural Failure Mechanism in the Human Hip
Published on: September 29, 2023
COL1A1 haplotypes and hip fracture.
Roser Urreizti1, Natàlia Garcia-Giralt, José A Riancho
1Departament de Genètica, Universitat de Barcelona, IBUB, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Barcelona, Spain.
Summary
This study investigated the COL1A1 gene
Area of Science:
- Genetics and Bone Health
- Osteoporosis Research
Background:
- Fragility fractures are common in older adults, particularly women, and linked to osteoporosis.
- Specific single nucleotide polymorphisms (SNPs) in the COL1A1 gene have been associated with bone mineral density (BMD) and fracture risk.
- A previously identified rare haplotype (T-delT-T) in COL1A1 was proposed as a predictor for fracture risk.
Purpose of the Study:
- To evaluate the association between a specific COL1A1 gene haplotype (T-delT-T) and hip fracture risk in a Spanish population.
- To analyze genotype and haplotype distributions of three COL1A1 SNPs (rs1107946, rs11327935, rs1800012) in fractured patients versus controls.
Main Methods:
- Genotyping and haplotype analysis of three COL1A1 SNPs in 203 hip fracture patients and 397 controls from the BARCOS Spanish cohort.
- Comparison of genotype and haplotype frequencies between patient and control groups.
Main Results:
- No significant association was found between individual COL1A1 SNPs or the T-delT-T haplotype and hip fracture risk at the genotype or haplotype level.
- A rare haplotype, G-insT-T, showed a small but statistically significant overrepresentation in the hip fracture patient group (p=0.03).
Conclusions:
- The T-delT-T COL1A1 haplotype is not associated with hip fracture risk in the studied Spanish population.
- The G-insT-T haplotype may have a minor role in hip fracture risk, warranting further investigation.
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