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Updated: Mar 24, 2026
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Scanning Skeletal Remains for Bone Mineral Density in Forensic Contexts
Published on: January 29, 2018
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Rare EN1 Variants and Pediatric Bone Mass
Jonathan A Mitchell1,2, Alessandra Chesi3, Shana E McCormack2,4
1Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Summary
Genetic variants near EN1 and SOX6 influence childhood bone density. Rare EN1 variants impact females, while common SOX6 variants affect males, suggesting lifelong osteoporosis risk implications.
Area of Science:
- Genetics
- Bone Biology
- Pediatrics
Background:
- Whole-genome sequencing identified variants near EN1 and SOX6 associated with adult bone mineral density.
- Understanding the developmental impact of these genetic loci on pediatric bone health is crucial.
Purpose of the Study:
- To investigate the association of EN1 and SOX6 variants with pediatric areal bone mineral density (aBMD) and bone mineral content (BMC).
- To determine if these associations are modified by sex in children.
Main Methods:
- Utilized data from 733 females and 685 males in the longitudinal Bone Mineral Density in Childhood Study.
- Calculated sex- and age-specific Z-scores for various bone sites and total body less head BMC.
- Employed linear mixed-effects models to test SNP associations and sex interactions.
Main Results:
- The rare T allele of EN1 SNP rs11692564 was linked to higher hip and femoral neck aBMD Z-scores, primarily in females.
- The common G allele of SOX6 SNP rs11024028 was associated with higher hip, femoral neck aBMD Z-scores, and TBLH-BMC Z-scores, with stronger associations in males.
Conclusions:
- Rare EN1 and common SOX6 genetic variations influence childhood bone accrual.
- These findings highlight the role of specific genetic loci in pediatric bone development and lifelong osteoporosis risk.
- Observed sex differences in genetic associations require independent replication.
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