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Updated: Jun 19, 2026

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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
Complex segregation analysis of the radiographic phalanges bone mineral density and their age-related changes
Gregory Livshits1, David Karasik, Eugene Kobyliansky
1Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Summary
A major gene significantly influences bone mineral density (BMD) baseline levels in two populations. However, this gene does not appear to control the age of bone loss onset or its rate.
Area of Science:
- Human Genetics
- Osteoporosis Research
- Quantitative Genetics
Background:
- Previous studies identified a significant major gene (MG) effect on age-adjusted bone mineral density (BMD) in Chuvasha and Turkmenian populations.
- Bone aging involves baseline level (mu(gs)), age at onset of bone mass loss (T(gs)), and rate of loss (alpha(gs)).
Purpose of the Study:
- To investigate if a pleiotropic major gene (MG) controls multiple components of bone aging.
- To test the hypothesis of MG control over baseline BMD, age at onset of bone loss, and rate of bone loss.
Main Methods:
- Complex segregation analysis was performed on hand phalangeal BMD data from Chuvasha (1208 individuals) and Turkmenian (643 individuals) pedigrees.
- Age and sex effects were incorporated into the MG penetrance function.
Main Results:
- The study confirmed the existence of a major gene (MG) influencing BMD, accounting for 34.7-35.2% of variation within sex in both populations.
- While MG significantly affected baseline BMD levels, no clear MG effects were inferred for the age of bone loss onset (T(gs)) or rate of loss (alpha(gs)) in either population.
- Sex differences in the rate of bone loss were observed, with females experiencing a more than twice as high rate (0.086 SD/year) compared to males (0.033 SD/year) in the Chuvasha sample.
Conclusions:
- A major gene significantly influences baseline bone mineral density (BMD) levels across different ethnic groups.
- The genetic control of baseline BMD appears distinct from the genetic factors, if any, influencing the age-related decline in BMD.
- Further research is needed to explore the genetic underpinnings of age-related bone loss rate and onset.
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