CONTEXT: Polymorphisms in the ESR1 gene encoding estrogen receptor (ER)-alpha 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. SETTING: The Avon Longitudinal Study of Parents and Children (ALSPAC) was a population-based prospective study. PARTICIPANTS: Participants included 3097 11-yr-old children with results for ESR1 genotyping, puberty measures, and dual-energy x-ray absorptiometry results. OUTCOMES: 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 (> or =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. CONCLUSIONS: 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.
CONTEXT: Polymorphisms in the ESR1 gene encoding estrogen receptor (ER)-alpha 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. SETTING: The Avon Longitudinal Study of Parents and Children (ALSPAC) was a population-based prospective study. PARTICIPANTS: Participants included 3097 11-yr-old children with results for ESR1 genotyping, puberty measures, and dual-energy x-ray absorptiometry results. OUTCOMES: 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 (> or =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. CONCLUSIONS: 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.
Authors: Mariël L te Winkel; Robert D van Beek; Sabine M P F de Muinck Keizer-Schrama; André G Uitterlinden; Wim C J Hop; Rob Pieters; Marry M van den Heuvel-Eibrink Journal: Haematologica Date: 2009-12-16 Impact factor: 9.941
Authors: Katarina Lagergren; Weronica E Ek; David Levine; Wong-Ho Chow; Leslie Bernstein; Alan G Casson; Harvey A Risch; Nicholas J Shaheen; Nigel C Bird; Brian J Reid; Douglas A Corley; Laura J Hardie; Anna H Wu; Rebecca C Fitzgerald; Paul Pharoah; Carlos Caldas; Yvonne Romero; Thomas L Vaughan; Stuart MacGregor; David Whiteman; Lars Westberg; Olof Nyren; Jesper Lagergren Journal: PLoS One Date: 2015-09-25 Impact factor: 3.240
Authors: Julia K Pinsonneault; John T Frater; Benjamin Kompa; Roshan Mascarenhas; Danxin Wang; Wolfgang Sadee Journal: PLoS One Date: 2017-06-15 Impact factor: 3.240