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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

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

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Autor(es):
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]
Número total de Autores: 8
Afiliação do(s) autor(es):
[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
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Fonte: ENDOCRINE CONNECTIONS; v. 8, n. 11, p. 1513-1519, NOV 2019.
Citações Web of Science: 0
Resumo

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)

Processo FAPESP: 13/03236-5 - Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal
Beneficiário:Alexander Augusto de Lima Jorge
Linha de fomento: Auxílio à Pesquisa - Temático
Processo FAPESP: 16/03318-0 - Farmacogenética do tratamento com hormônio de crescimento e estrógeno em pacientes com Síndrome de Turner
Beneficiário:Renata da Cunha Scalco Tirapeli
Linha de fomento: Bolsas no Brasil - Pós-Doutorado