中枢性性早熟女童雌激素受体α基因PvuII和XbaI多态性分析：一项初步研究。
Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study.
作者信息
Soares-Jr José Maria, de Holanda Felisbela Soares, Matsuzaki Cézar Noboru, Sorpreso Isabel Cristina Esposito, de Arruda Veiga Eduardo Carvalho, de Abreu Luiz Carlos, Carvalho Kátia Cândido, Baracat Edmund Chada
机构信息
Disciplina de Ginecologia, Departamento de Obstetrícia e Ginecologia, Hospital das Clínicas, Faculdade de Medicina da USP, Av. Dr. Eneas de Carvalho Aguiar, 255 - Predio do Instituto Central, 10 andar, sala 10167, São Paulo, 05403-000, Brazil.
Department of Gynecology, UNIFESP, São Paulo, Brazil.
出版信息
BMC Med Genet. 2018 May 25;19(1):84. doi: 10.1186/s12881-018-0577-x.
BACKGROUND
Precocious puberty (PP) is defined as premature pubertal development. Its consequences surpass the physical evidence of sexual maturity with the premature epiphyseal closure of the long bones and the reduction of adult stature by varied degrees. Central PP is characteristically dependent on GnRH and most of its causes are not completely known. Altered estrogen action is also believed to be involved in the genesis of PP. In fact, estrogen receptor alpha (Rea) gene polymorphisms may be associated with early age at menarche. The objective of this study was to investigate the relationship between Reα gene polymorphisms (PvuII and XbaI) and the occurrence of central PP.
METHODS
A total of 73 girls with central PP and 101 girls with normal pubertal maturation were evaluated. Both groups were genotyped for the PvuII (T/C) and XbaI (A/G) polymorphisms in the Reα gene.
RESULTS
The frequency distribution of the XbaI (p = 0.28) and of the PvuII (p = 0.12) genotypes, as well as the XbaI and PvuII allelic variants (p = 0.23 and p = 0.86, respectively), did not differ between the groups.
CONCLUSION
The PvuII and XbaI Rea gene polymorphisms do not appear to be related to development of central PP.
背景
性早熟（PP）被定义为青春期过早发育。其后果不仅包括性成熟的身体表现，还包括长骨骨骺过早闭合以及成年身高不同程度降低。中枢性性早熟典型地依赖促性腺激素释放激素（GnRH），并且其大多数病因尚不完全清楚。雌激素作用改变也被认为与性早熟的发生有关。事实上，雌激素受体α（Reα）基因多态性可能与初潮年龄过早有关。本研究的目的是探讨Reα基因多态性（PvuII和XbaI）与中枢性性早熟发生之间的关系。
方法
共评估了73例中枢性性早熟女孩和101例青春期发育正常的女孩。对两组进行Reα基因PvuII（T/C）和XbaI（A/G）多态性基因分型。
结果
两组之间XbaI（p = 0.28）和PvuII（p = 0.12）基因型的频率分布，以及XbaI和PvuII等位基因变异（分别为p = 0.23和p = 0.86）没有差异。
结论
PvuII和XbaI Reα基因多态性似乎与中枢性性早熟的发生无关。
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