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Updated: Jun 16, 2026
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Cantilever Bending of Murine Femoral Necks
Published on: January 5, 2022
Genome-wide association study for femoral neck bone geometry
Lan-Juan Zhao1, Xiao-Gang Liu, Yao-Zhong Liu
1Osteoporosis Research Center, Creighton University Medical Center, Omaha, NE, USA.
Summary
A genome-wide association study identified a genetic variant in the receptor transporting protein 3 (RTP3) gene associated with femoral neck bone geometry. This finding suggests RTP3 may be a novel candidate gene influencing hip fracture risk.
Area of Science:
- Genetics
- Orthopedics
- Bone Biology
Background:
- Poor femoral neck bone geometry is a significant risk factor for hip fractures.
- Understanding the genetic basis of bone geometry is crucial for identifying individuals at high risk.
Purpose of the Study:
- To identify genetic variants associated with femoral neck bone geometry using a genome-wide association study (GWAS).
- To investigate the association of identified genetic variants with the risk of hip fracture.
Main Methods:
- Conducted a GWAS of femoral neck bone geometry in 1000 Caucasians, analyzing approximately 379,000 single-nucleotide polymorphisms (SNPs).
- Performed linkage analysis in 434 pedigrees to assess the association of the RTP3 gene region with cortical thickness (CT).
- Validated findings through replication analyses in independent Caucasian and Chinese cohorts and genotyped hip fracture patients and controls.
Main Results:
- Identified a common genetic variant, rs7430431 in the receptor transporting protein 3 (RTP3) gene, strongly associated with buckling ratio (BR) and CT.
- Confirmed the association of rs7430431 with BR and CT in replication cohorts.
- Found a significant association between a nearby RTP3 SNP, rs10514713, and hip fracture risk.
Conclusions:
- The RTP3 gene is a novel candidate gene for femoral neck bone geometry.
- Genetic variations in RTP3 may influence bone structural instability and contribute to hip fracture susceptibility.
Related Concept Videos
01:11Genome-wide Association Studies-GWAS
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
01:17Gross Anatomy of Bone
The two main features of a long bone are the diaphysis and the epiphysis.
The diaphysis is the tubular shaft that runs between the proximal and distal ends of the bone. The walls of the diaphysis are composed of dense and hard compact bone made of numerous osteons — the functional unit of the compact bone. The hollow region in the diaphysis is called the medullary cavity, which harbors the bone marrow. In infants and children, this marrow cavity is filled with red marrow, whereas in adults, it...
The diaphysis is the tubular shaft that runs between the proximal and distal ends of the bone. The walls of the diaphysis are composed of dense and hard compact bone made of numerous osteons — the functional unit of the compact bone. The hollow region in the diaphysis is called the medullary cavity, which harbors the bone marrow. In infants and children, this marrow cavity is filled with red marrow, whereas in adults, it...