Background: Genetic variation of the estrogen receptor alpha (ESR1) and beta (ESR2) has been associated with components of the metabolic syndrome.
Methods: The relationships of two ESR1 (rs2234693 and rs9340799) and three ESR2 (rs1271572, rs1256049, and rs4986938) polymorphisms with the metabolic syndrome were examined in 532 Caucasian female participants (median age 63.1 years) in the Women's Health Study. Most women (99.1%) were postmenopausal. The associations between ESR1 and ESR2 genotypes and haplotypes with the metabolic syndrome were evaluated. Effect modification by hormone therapy was also assessed.
Results: Genotype and haplotype distributions were similar between women with and without metabolic syndrome. We found no consistent associations between the genotypes and haplotypes tested and the metabolic syndrome, or its components, in logistic regression models. No effect modification by hormone therapy use was noted.
Conclusions: No association between these genetic variants in ESR1 and ESR2 and the metabolic syndrome was observed among these Caucasian women. Further investigation regarding the potential involvement of estrogen receptor genes and the metabolic syndrome may be warranted in other ethnic groups.