Estrogen Receptor Alpha Gene Polymorphism Associated With Endocrine-Cognitive Changes Related To Aging

The estrogen receptor alpha (ESR1) IVS-1 -397 T/C gene polymorphism was explored whether is associated with age-dependent endocrine, metabolic and cognitive changes.Subjects, both genders aged between 20 and 80 yr were assigned to three lots (1) 177 subjects aged 55-80 years with moderately cognitive impairment (MCI) (MMSE<28); (2) 133 age-matched subjects without cognitive impairment (MMSE >= 28); (3) 143 healthy subjects tinder 55 years. The hematological, biochemical, hormonal profile and cognitive performance were evaluated. Gene polymorphisms were assayed by using PCR-RFLP technique.The allele frequencies did not deviate from the Hardy-Weinberg equilibrium. Low P values (<0.05) were identified for the differences in the genotype frequencies in lot 2 compared to lot 3. The percentages of CC genotype significantly decreased and TC genotype increased with advanced age (CC: 13.0 vs 23.4; TC: 65.9 vs 47.5). In lot 1 compared with lot 2 there are significant differences in TT and TC genotypes(p=0.03). The genotype frequencies did not differ significantly between women and men; there was a significant difference in the endocrine and metabolic changes according to genotype between male and female groups.The results suggest that ESR1 gene polymorphism is involved in aging process related to cognitive performance and endocrine changes.