Endocrine Abstracts

Introduction: The etiology of this autoimmune disorder results from the presence of stimulating antibodies binding to TSH receptor. The disease has a strong genetic background associated with HLA and CTLA-4 genes.

The aim of study: The aim of this study was to estimate the influence of polymorphic variants of ESR1 gene on the bone mineral density in young premenopausal women with Grave’s disease (GD).

Material and methods: The study was conducted on 75 premenopausal women with GD. The average age of the women was 37 years (from 23 to 46), weight 64 kg (from 51 to 98 kg), height 1.64 m (from 1.50 m to 1.80 m). The analyzed group of women with GD in the state of hyperthyroidism. All of them still had regular menses at the time of this study. The control group consisted of 160 women without thyroid disease

In all of the cases measurements of BMD in the lumbar spine L1-L4 (LS) and femoral neck (FN). Laboratory evaluation included: serum TSH levels, free T₄ and T₃ and TPO thyroperoxidase antibodies levels at the beginning of the study. In all cases there were performed DNA isolation from the peripheral blood and PCR reaction. The PCR product was analyzed by restriction fragment length polymorphism (RFLP) using PvuII and XbaI restrictases.

Results: Homozygotic women with px haplotype had the lowest LS BMD value (1.113 g/cm²). For this haplotype the tendency dose effect was observed, but not statistically significant.

The dominant effect was evaluated for PX haplotype, homozygotic PX haplotype had the highest LS BMD (1.246 g/cm2). A dose effect for PX haplotype was observed.

In these cases results were statistically significant.

Conclusion:
(1) px haplotype of ESR1 gene may determine lower BMD value in the lumbar spine L1-L4.

(2) PX haplotype of ESR1 gene can determine higher BMD value in lumbar spine.