Zhai Xian-Dun, Ye Yi, Yang Yang, Wang Zheng, Mo Yao-Nan
Institute of Forensic Medicine, Hennan University of Science and Technology, Luoyang 471003, Henan, China.
DNA Cell Biol. 2009 Dec;28(12):633-6. doi: 10.1089/dna.2009.0917.
Numerous candidate genes have been proposed as susceptibility factors for the development of uterine leiomyoma. Interaction of estrogen receptor alpha (ESR1) and estrogen receptor beta (ESR2) plays a pivotal role in tunica muscularis uteri cell proliferation, differentiation, and tumorigenesis of myometrium. To our knowledge, no study has examined the relationship between the ESR2 and uterine leiomyoma. The aim of the study was to evaluate the association of ESR2 polymorphisms with uterine leiomyoma in Chinese women. We investigated two common ESR2 polymorphisms, rs1256049 (G1082A) and rs928554 (Cx + 56 A --> G), to find their association with uterine leiomyoma risk by polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing method. A total of 150 Chinese women with clinically diagnosed uterine leiomyoma and 150 healthy, normal Chinese women were included in the study. The results suggest that there were no significant differences in the genotype and allele frequencies of ESR2 polymorphisms between uterine leiomyoma patients and controls in Chinese women (p > 0.05). Further studies are still needed to explore the complicated interaction between environmental factors and ESR2 polymorphisms in the risk of uterine leiomyoma, particularly in ethnically different populations.
众多候选基因已被提出作为子宫肌瘤发生发展的易感因素。雌激素受体α（ESR1）和雌激素受体β（ESR2）的相互作用在子宫肌层细胞增殖、分化及子宫肌层肿瘤发生中起关键作用。据我们所知，尚无研究探讨ESR2与子宫肌瘤之间的关系。本研究的目的是评估中国女性中ESR2基因多态性与子宫肌瘤的关联。我们调查了ESR2的两个常见多态性位点，rs1256049（G1082A）和rs928554（Cx + 56 A→G），采用聚合酶链反应-限制性片段长度多态性和DNA测序方法来寻找它们与子宫肌瘤风险的关联。本研究共纳入150例临床诊断为子宫肌瘤的中国女性和150例健康的中国正常女性。结果表明，中国女性子宫肌瘤患者与对照组之间ESR2基因多态性的基因型和等位基因频率无显著差异（p>0.05）。仍需进一步研究来探索环境因素与ESR2基因多态性在子宫肌瘤风险中的复杂相互作用，尤其是在不同种族人群中。
