Estrogen receptor α regulates area-adjusted bone mineral content in late pubertal girls

Tobias, J. H., Steer, C. D., Vilariňo-Güell, C., & Brown, M. A. (2007) Estrogen receptor α regulates area-adjusted bone mineral content in late pubertal girls. Journal of Clinical Endocrinology and Metabolism, 92(2), pp. 641-647.

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Whether the action of estrogen in skeletal development depends on estrogen receptor α as encoded by the ESR1 gene is unknown.


The aim of this study was to establish whether the gain in area-adjusted bone mineral content (ABMC) in girls occurs in late puberty and to examine whether the magnitude of this gain is related to ESR1 polymorphisms.


We conducted a cross-sectional analysis. Setting: The study involved the Avon Longitudinal Study of Parents and Children (ALSPAC), a population-based prospective study.


Participants included 3097 11-yr-olds with DNA samples, dual x-ray absorptiometry measurements, and pubertal stage information.


Outcome measures included separate prespecified analyses in boys and girls of the relationship between ABMC derived from total body dual x-ray absorptiometry scans and Tanner stage and of the interaction between ABMC, Tanner stage, and ESR1 polymorphisms.


Total body less head and spinal ABMC were higher in girls in Tanner stages 4 and 5, compared with those in Tanner stages 1, 2, and 3. In contrast, height increased throughout puberty. No differences were observed in ABMC according to Tanner stage in boys. For rs2234693 (PvuII) and rs9340799 (XbaI) polymorphisms, differences in spinal ABMC in late puberty were 2-fold greater in girls who were homozygous for the C and G alleles, respectively (P = 0.001). For rs7757956, the difference in total body less head ABMC in late puberty was 50% less in individuals homozygous or heterozygous for the A allele (P = 0.006).


Gains in ABMC in late pubertal girls are strongly associated with ESR1 polymorphisms, suggesting that estrogen contributes to this process via an estrogen receptor α-dependent pathway.

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ID Code: 89469
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :12 Export Date: 21 September 2015 CODEN: JCEMA Correspondence Address: Tobias, J.H.; Rheumatology Unit, Bristol Royal Infirmary, Bristol BS2 8HW, United Kingdom; email:
Keywords: estrogen, estrogen receptor alpha, article, body height, bone development, bone mineral, controlled study, DNA polymorphism, dual energy X ray absorptiometry, estrogen activity, estrogen receptor alpha gene, female, gene, gene frequency, genotype, haplotype, human, intron, male, normal human, outcomes research, priority journal, puberty, school child, sex difference, single nucleotide polymorphism, Bone and Bones, Bone Density, Child, Estrogens, Haplotypes, Humans, Introns, Linkage Disequilibrium, Longitudinal Studies, Polymorphism, Genetic, Prospective Studies
DOI: 10.1210/jc.2006-1555
ISSN: 0021-972X
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright © 2007 Endocrine Society
Deposited On: 25 Oct 2015 23:39
Last Modified: 19 Aug 2016 01:16

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