Effect of an estrogen receptor-α intron 4 polymorphism on fat mass in 11-year-old children

Tobias, J. H., Steer, C. D., Vilariňo-Güell, C., & Brown, M. A. (2007) Effect of an estrogen receptor-α intron 4 polymorphism on fat mass in 11-year-old children. Journal of Clinical Endocrinology and Metabolism, 92(6), pp. 2286-2291.

View at publisher



in the ESR1 gene encoding estrogen receptor (ER)-α may be associated with fat mass in adults. Objectives: The objective of the study was to establish whether ESR1 polymorphisms influence fat mass in childhood. Design: This was a cross-sectional analysis after genotyping of rs9340799, rs2234693, and rs7757956 ESR1 polymorphisms.


The Avon Longitudinal Study of Parents and Children (ALSPAC) was a population-based prospective study.


Participants included 3097 11-yr-old children with results for ESR1 genotyping, puberty measures, and dual-energy x-ray absorptiometry results.


Relationships between ESR1 polymorphisms and indices of body composition were measured. Results: The rs7757956 polymorphism was associated with fat mass (P = 0.002). Total body fat mass (adjusted for height) was reduced by 6% in children with TA/AA genotypes, and risk of being overweight (≥85th centile of fat mass) was decreased by 20%. This genetic effect appeared to interact with puberty in girls (P = 0.05 for interaction): in those with the TT genotype, total body fat mass (adjusted for height) was 18% higher in Tanner stages 3-5 vs. stages 1-2; the equivalent difference was 7% in those with TA/AA genotypes. Furthermore, the risk of being overweight was 36% lower in girls with TA/AA genotypes in Tanner stages 3-5, but no reduction was seen in those in stages 1-2. Neither rs9340799 nor rs2234693 polymorphisms were associated with body composition measures.


Fat mass in 11-yr-old children was related to the rs7757956 ESR1 polymorphism. This association was strongest in girls in more advanced puberty, in whom the risk of being overweight was reduced by 36% in those with the TA/AA genotype.

Impact and interest:

14 citations in Scopus
Search Google Scholar™
12 citations in Web of Science®

Citation counts are sourced monthly from Scopus and Web of Science® citation databases.

These databases contain citations from different subsets of available publications and different time periods and thus the citation count from each is usually different. Some works are not in either database and no count is displayed. Scopus includes citations from articles published in 1996 onwards, and Web of Science® generally from 1980 onwards.

Citations counts from the Google Scholar™ indexing service can be viewed at the linked Google Scholar™ search.

ID Code: 89470
Item Type: Journal Article
Refereed: Yes
Additional Information: Cited By :13 Export Date: 21 September 2015 CODEN: JCEMA Correspondence Address: Tobias, J.H.; Rheumatology Unit, Bristol Royal Infirmary, Bristol BS2 8HW, United Kingdom; email: jon.tobias@bristol.ac.uk
Keywords: estrogen receptor alpha, fat, article, body composition, body fat, cross-sectional study, dual energy X ray absorptiometry, female, genetic polymorphism, genotype, human, intron, male, priority journal, puberty, school child, Adipose Tissue, Body Height, Child, Cross-Sectional Studies, Densitometry, X-Ray, Genetic Predisposition to Disease, Humans, Introns, Longitudinal Studies, Obesity, Polymorphism, Genetic, Risk Factors
DOI: 10.1210/jc.2006-2447
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 23:11
Last Modified: 19 Aug 2016 01:27

Export: EndNote | Dublin Core | BibTeX

Repository Staff Only: item control page