Estrogen receptor 1 gene rs2295193 polymorphism and anorexia nervosa: new data and meta-analysis

Estrogen plays essential roles in the regulation of food intake, adiposity, and body weight control. The estrogen alpha receptor, encoded by estrogen receptor 1 gene (ESR1), has been implicated with anorexia nervosa (AN). A previous study indicated that the rs2295193 polymorphism in ESR1 may confer a genetic susceptibility to AN.

In a case-control study, we assessed 195 AN probands and 93 healthy controls; 99 trios were studied in a family-based association analysis through genotyping the rs2295193 polymorphism in ESR1. Additionally, we carried out a meta-analysis of the combined sample groups.

There were no significant differences in the genotype or allele frequencies of the rs2295193 polymorphism between the AN and control groups (Ps > 0.05). In the transmission disequilibrium test (TDT) analyses, there was no evidence for biased transmission of the G allele of rs2295193 polymorphism (P = 0.32). In female-only samples, no significant association was observed between the rs2295193 polymorphism and AN in either case-control or transmission disequilibrium test analyses (Ps > 0.05). The meta-analysis revealed that no excess of transmission of the G allele in AN families (pooled odds ratio = 1.10, P = 0.79).

Meta-analytically combined evidence from the present genotyping and the literature showed that rs2295193 polymorphism in ESR1 is not a major genetic susceptibility factor in AN.