Association between Estrogen Receptor Alpha Gene (ESR1) Polymorphism and Risk Factors for obesity in Koreans

Estrogen receptor alpha gene (ESR1) polymorphisms have been associated with obesity‐related variables, as well as several diseases such as breast cancer, endometrial cancer, and osteoporosis. This study investigated the effects of ESR1 polymorphisms on obesity‐related variables, and their modulation by dietary intakes. The subjects consisted of 8,322 aged 40–69 years adults (3,975 male, 4,347 female) participating in the Korean Genome Epidemiology Study (KoGES). The general characteristics, anthropometric variables, biochemical analysis, 2 ESR1 SNPs (rs6930355 and rs2273207) and nutrient intakes were analyzed. ESR1 rs6930355 and rs2273207 were associated with BMI (P= 0.008 and 0.001, respectively), waist circumference (P=0.007 and 0.001, respectively) and WHR (P=0.019 and 0.009, respectively). ESR1 rs2273207, was also associated with hip (P=0.003), weight (P=0.013), and body fat (P=0.021). The prevalence of obesity was significantly lower in subjects with minor C allele of ESR1 rs2273207 than in those with the T allele carrier (TT=43.0% and CC= 37.9%). Moreover, the minor C allele of ESR1 rs2273207 was associated with a decreased risk of obesity prevalence [OR (95%CI) = 0.80 (0.69–0.94), P=0.005]. However, there were not any significant interactions observed between the ESR1 polymorphisms and dietary nutrient intakes on BMI. These findings suggest that the obesity‐related variables may be dominantly affected by the ESR1 polymorphisms and the minor allele carrier of ESR1 rs2273207 may protect risk of obesity in Korean.