Context: Polymorphisms in the ESR1 gene encoding estrogen receptor (ER)-alpha may be associated with fat mass in adults. Objective(s): The objective of the study was to establish whether ESR1 polymorphisms influence fat mass in childhood. Design(s): This was a cross-sectional analysis after genotyping of rs9340799, rs2234693, and rs7757956 ESR1 polymorphisms. Setting(s): The Avon Longitudinal Study of Parents and Children (ALSPAC) was a population-based prospective study. Participant(s): Participants included 3097 11-yr-old children with results for ESR1 genotyping, puberty measures, and dual-energy x-ray absorptiometry results. Outcome(s): Relationships between ESR1 polymorphisms and indices of body composition were measured. Result(s): 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. Conclusion(s): 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. Copyright © 2007 by The Endocrine Society.
CITATION STYLE
J.H., T., C.D., S., C., V.-G., & M.A., B. (2007). Effect of an estrogen receptor-alpha intron 4 polymorphism on fat mass in 11-year-old children. Journal of Clinical Endocrinology and Metabolism, 92(6), 2286–2291. Retrieved from https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.2006-2447 https://academic.oup.com/jcem/article-pdf/92/6/2286/10780547/jcem2286.pdf
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