ArticleJournal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research2016
Rare EN1 Variants and Pediatric Bone Mass.
Article in Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 28 citations in OpenAlex.
- Multidimensional Bone Density Phenotyping Reveals New Insights Into Genetic Regulation of the Pediatric Skeleton.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2018Trial
- The gSOS polygenic score is associated with bone density and fracture risk in childhood.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- Mechanically strained osteocyte-derived exosomes contained miR-3110-5p and miR-3058-3p and promoted osteoblastic differentiation.Biomedical engineering online · 2024Article
- Endocrine Health and Health Care Disparities in the Pediatric and Sexual and Gender Minority Populations: An Endocrine Society Scientific Statement.The Journal of clinical endocrinology and metabolism · 2023Article
- The Polygenic and Monogenic Basis of Paediatric Fractures.Current osteoporosis reports · 2021Review
- Factors influencing peak bone mass gain.Frontiers of medicine · 2021Review
- Using zebrafish to study skeletal genomics.Bone · 2019Review
- Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density.Nature communications · 2019Article
- Physical Activity and Bone Accretion: Isotemporal Modeling and Genetic Interactions.Medicine and science in sports and exercise · 2018Article
- Sexual Dimorphism and the Origins of Human Spinal Health.Endocrine reviews · 2018Review
- A Genomewide Association Study Identifies Two Sex-Specific Loci, at SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2017Article
- Genetics of pediatric bone strength.BoneKEy reports · 2016Review
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Authors and funding
13 authors at 7 institutions in 1 country.
Funding
Abstract
A recent whole-genome sequencing study in search of variation associated with adult areal bone mineral density (aBMD) identified rare variants near EN1, with markedly large effect sizes, and a common variant near SOX6. To understand the developmental effects of these loci, we sought to determine if they were associated with pediatric dual-energy X-ray absorptiometry-derived aBMD and bone mineral content (BMC) and if the associations were modified by sex. Our sample comprised 733 females and 685 males of European ancestry enrolled in the longitudinal Bone Mineral Density in Childhood Study (up to 7 annual study visits). Sex- and age-specific Z-scores, adjusted for height, were calculated for the total hip, femoral neck, spine, and distal radius. Total body less head (TBLH) BMC Z-scores were also calculated. The previously reported single nucleotide polymorphisms (SNPs) near EN1 and SOX6 were derived from our imputed data set. Linear mixed-effects models were used to test associations between each SNP and bone Z-scores, plus interactions with sex were explored. The rare T allele of lead EN1 SNP rs11692564 was associated with higher aBMD Z-score for total hip (beta = 0.62, p = 9.0 × 10(-4) ) and femoral neck (beta = 0.53, p = 0.010). In sex-stratified analyses, this variant was associated with higher bone Z-scores in females only, with the associations being strongest for total hip (sex interaction p = 1.9 × 10(-4) ; beta females = 0.86, p = 6.6 × 10(-6) ) and femoral neck (sex interaction p = 0.016; beta females = 0.73, p = 0.001). The common G allele of SOX6 SNP rs11024028 was associated with higher aBMD Z-score for total hip (beta = 0.12, p = 0.009), femoral neck (beta = 0.13, p = 0.003), and TBLH-BMC (beta = 0.09, p = 0.007); furthermore, this association strengthened in males in the sex-stratified analyses. Our findings reveal that rare genetic variation near EN1 and common variation near SOX6 operates in childhood and has implications for the lifelong risk of osteoporosis and fracture. The sex differences observed need to be independently replicated. © 2016 American Society for Bone and Mineral Research.
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