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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

ESR1 polymorphism (rs2234693) influences femoral bone mass in patients with Turner syndrome

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Scalco, Renata C. [1, 2, 3] ; Trarbach, Ericka B. [1] ; Albuquerque, Edoarda V. A. [1] ; Homma, Thais K. [1] ; Inoue-Lima, Thais H. [1] ; Nishi, Mirian Y. [2] ; Mendonca, Berenice B. [2] ; Jorge, Alexander A. L. [1]
Total Authors: 8
[1] Univ Sao Paulo, Unidade Endocrinol Genet, Lab Endocrinol Celular & Mol LIM 25, Disciplina Endocrinol, Fac Med, Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM 42, Disciplina Endocrinol, Fac Med, Sao Paulo, SP - Brazil
[3] Fac Ciencias Med Santa Casa Sao Paulo, Disciplina Endocrinol, Sao Paulo, SP - Brazil
Total Affiliations: 3
Document type: Journal article
Source: ENDOCRINE CONNECTIONS; v. 8, n. 11, p. 1513-1519, NOV 2019.
Web of Science Citations: 0

Most patients with Turner syndrome (TS) need hormone replacement therapy because of hypergonadotropic hypogonadism; individual outcomes, however, are highly variable. Our objective was to assess the influence of five estrogen receptor 1 gene (ESR1) polymorphisms (rs543650, rs1038304, rs2046210, rs2234693 and rs9340799) on adult height, breast development, uterine volume and bone mineral density (BMD). We studied 91 TS patients from a tertiary hospital using adult estrogen dose. In our group, ESR1 rs2234693 was associated with femoral neck and total hip BMD, and it accounted for around 10% of BMD variability in both sites (P < 0.01). Patients homozygous for C allele in this polymorphism had significantly lower femoral neck BMD (0.699 t 0.065 g/cm(2)vs 0.822 +/- 0.113 g/cm(2), P = 0.008) and total hip BMD (0.777 +/- 0.118 g/cm(2)vs 0.903 +/- 0.098 g/cm(2), P = 0.009) than patients homozygous for T allele. The other four ESR1 polymorphisms were not able to predict any of the above estrogen therapy outcomes in an isolated manner. Patients homozygous for the haplotype GCG formed by polymorphisms rs543650, rs2234693 and rs9340799 had an even more significantly lower femoral neck BMD (0.666 +/- 0.049 vs 0.820 +/- 0.105 g/cm(2), P = 0.0047) and total hip BMD (0.752 +/- 0.093 vs 0.908 +/- 0.097 g/cm(2), P = 0.0029) than patients homozygous for haplotypes with a T allele in rs2234693. In conclusion, homozygosity for C allele in ESR1 rs2234693 and/or for GCG haplotype appears to be associated with lower femoral neck and total hip BMD. We believe that the identification of polymorphisms related to estrogen outcomes may contribute to individualization of treatment in TS. (AU)

FAPESP's process: 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders
Grantee:Alexander Augusto de Lima Jorge
Support type: Research Projects - Thematic Grants
FAPESP's process: 16/03318-0 - Growth hormone and estrogen pharmacogenetics in patients with Turner Syndrome
Grantee:Renata da Cunha Scalco Tirapeli
Support type: Scholarships in Brazil - Post-Doctorate