Kasap Burcu, Öztürk Turhan Nilgün, Edgünlü Tuba, Duran Müzeyyen, Akbaba Eren, Öner Gökalp
Department of Obstetrics and Gynecology, School of Medicine, Mugla Sitki Kocman University, Mugla, Turkey.
Bosn J Basic Med Sci. 2016 Jan 6;16(1):39-45. doi: 10.17305/bjbms.2016.683.
The G-protein-coupled estrogen receptor (GPR30, GPER-1) is a member of the G-protein-coupled receptor 1 family and is expressed significantly in uterine leiomyomas. To understand the relationship between GPR30 single nucleotide polymorphisms and the risk of leiomyoma, we measured the follicle-stimulating hormone (FSH) and estradiol (E2) levels of 78 perimenopausal healthy women and 111 perimenopausal women with leiomyomas. The participants' leiomyoma number and volume were recorded. DNA was extracted from whole blood with a GeneJET Genomic DNA Purification Kit. An amplification-refractory mutation system polymerase chain reaction approach was used for genotyping of the GPR30 gene (rs3808350, rs3808351, and rs11544331). The differences in genotype and allele frequencies between the leiomyoma and control groups were calculated using the chi-square (χ2) and Fischer's exact test. The median FSH level was higher in controls (63 vs. 10 IU/L, p=0.000), whereas the median E2 level was higher in the leiomyoma group (84 vs. 9.1 pg/mL, p=0.000). The G allele of rs3808351 and the GG genotype of both the rs3808350 and rs3808351 polymorphisms and the GGC haplotype increased the risk of developing leiomyoma. There was no significant difference in genotype frequencies or leiomyoma volume. However, the GG genotype of the GPR30 rs3808351 polymorphism and G allele of the GPR30 rs3808351 polymorphism were associated with the risk of having a single leiomyoma. Our results suggest that the presence of the GG genotype of the GPR30 rs3808351 polymorphism and the G allele of the GPR30 rs3808351 polymorphism affect the characteristics and development of leiomyomas in the Turkish population.
G蛋白偶联雌激素受体(GPR30,GPER-1)是G蛋白偶联受体1家族的成员,在子宫平滑肌瘤中表达显著。为了解GPR30单核苷酸多态性与平滑肌瘤风险之间的关系,我们测量了78名围绝经期健康女性和111名围绝经期平滑肌瘤女性的促卵泡生成素(FSH)和雌二醇(E2)水平。记录参与者的平滑肌瘤数量和体积。使用GeneJET基因组DNA纯化试剂盒从全血中提取DNA。采用扩增阻滞突变系统聚合酶链反应方法对GPR30基因(rs3808350、rs3808351和rs11544331)进行基因分型。使用卡方(χ2)检验和费舍尔精确检验计算平滑肌瘤组与对照组之间基因型和等位基因频率的差异。对照组的FSH中位数水平较高(63对10 IU/L,p=0.000);而平滑肌瘤组的E2中位数水平较高(84对9.1 pg/mL,p=0.000)。rs3808351的G等位基因以及rs3808350和rs3808351多态性的GG基因型和GGC单倍型增加了发生平滑肌瘤的风险。基因型频率或平滑肌瘤体积无显著差异。然而GPR30 rs3808351多态性的GG基因型和GPR30 rs3808351多态性的G等位基因与单发平滑肌瘤的风险相关联。我们的结果表明,GPR30 rs3808351多态性的GG基因型和GPR30 rs3808351多态性的G等位基因影响土耳其人群平滑肌瘤的特征和发生发展。