Lee H S, Kim Y J, Hwang J S
Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon, Korea.
Exp Clin Endocrinol Diabetes. 2013 Apr;121(4):206-9. doi: 10.1055/s-0032-1327735. Epub 2013 Apr 4.
Estrogen plays a crucial role in the development and function in reproductive physiology. Estrogens regulate cellular activity through binding to estrogen receptor α (ERα) and β (ERβ). ERα polymorphisms have been associated with changes in age at menarche, menopause onset, and fertility. The aim of this study is to investigate the relationship of ERα gene polymorphisms with central precocious puberty (CPP) in girls. Two hundred and one (201) Korean girls with idiopathic CPP were included in this study along with 100 healthy Korean female adults with pubertal maturation within normal age who served controls. Auxological and endocrine parameters were measured, and both patients and controls were genotyped for PvuII (397 T→C) and XbaI (351 A→G) polymorphisms in the ERα gene. A significantly lower incidence of the CC genotype with PvuII polymorphism were noted among CPP girls than controls (11.9% vs. 22%, P=0.021). However, the clinical parameters did not differ among the 3 genotypes. In addition, there was no significant difference in patients with the XbaI polymorphism compared to controls. The present study reveals that neither PvuII nor XbaI polymorphisms in the ERα gene are associated with onset and progression of puberty. However, further studies are needed to validate the exact function of these polymorphisms.
雌激素在生殖生理的发育和功能中起着至关重要的作用。雌激素通过与雌激素受体α（ERα）和β（ERβ）结合来调节细胞活性。ERα基因多态性与初潮年龄、绝经 onset 和生育能力的变化有关。本研究的目的是探讨 ERα基因多态性与女孩中枢性性早熟（CPP）的关系。本研究纳入了 201 名患有特发性 CPP 的韩国女孩以及 100 名年龄正常且青春期成熟的健康韩国成年女性作为对照。测量了人体测量学和内分泌参数，并对患者和对照进行了 ERα基因中 PvuII（397 T→C）和 XbaI（351 A→G）多态性的基因分型。与对照组相比，CPP 女孩中 PvuII 多态性的 CC 基因型发生率显著较低（11.9%对 22%，P = 0.021）。然而，3 种基因型之间的临床参数并无差异。此外，与对照组相比，XbaI 多态性患者也没有显著差异。本研究表明，ERα基因中的 PvuII 和 XbaI 多态性均与青春期的 onset 和进展无关。然而，需要进一步研究来验证这些多态性的确切功能。
