Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Kaohsiung Medical Center, Chang Gung University, College of Medicine, Kaohsiung, Taiwan.
Taiwan J Obstet Gynecol. 2013 Jun;52(2):197-203. doi: 10.1016/j.tjog.2013.04.008.
To investigate the relationship between single nucleotide polymorphisms (SNPs) of the genes encoding the estrogen receptor 1 (ESR1) and the receptor activator of nuclear factor kappa B ligand (RANKL) and bone mineral density (BMD) in postmenopausal Taiwanese.
Five ESR1 SNPs and three RANKL SNPs in 467 women were genotyped. Results of genotyping were correlated with BMD that had been adjusted for body mass index (BMI), age, and years after menopause.
Those with the ESR1 Crs1884054 allele were found to have a lower BMD at LS2-4/Lateral view (p = 0.005 and permutated p = 0.046), and those with the ESR1 haplotype Trs2234693-Ars922996 had a higher risk for low BMD also at LS2-4/Lat (OR = 1.8, 95% CI = 1.1-2.9). In addition, women without the RANKL haplotype Grs2148072-Crs2200287-Grs922996 had a higher risk for low BMD at LS1-4/AP (OR = 2.09, 95% CI = 1.21 ∼ 3.64). Stratification analyses revealed that those with ESR1 AArs1884054 and RANKL Ars2148072 (p = 0.032) or RANKL Trs2200287 (p = 0.007) had a lower BMD at LS1-4/AP.
Genotypes of these SNPs of ESR1 and RANKL may help us predict the osteoporosis risk in menopausal women.
研究编码雌激素受体 1（ESR1）和核因子κB 受体激活剂配体（RANKL）的基因单核苷酸多态性（SNPs）与绝经后台湾人骨密度（BMD）之间的关系。
对 467 名女性的 5 个 ESR1 SNP 和 3 个 RANKL SNP 进行基因分型。对基因分型结果与经过体重指数（BMI）、年龄和绝经后年数调整的 BMD 进行相关性分析。
发现 ESR1 Crs1884054 等位基因的女性 LS2-4/Lateral view 处的 BMD 较低（p = 0.005 和置换检验的 p = 0.046），ESR1 单倍型 Trs2234693-Ars922996 的女性 LS2-4/Lat 处发生低 BMD 的风险也较高（OR = 1.8，95% CI = 1.1-2.9）。此外，没有 RANKL 单倍型 Grs2148072-Crs2200287-Grs922996 的女性 LS1-4/AP 处发生低 BMD 的风险较高（OR = 2.09，95% CI = 1.21-3.64）。分层分析显示，ESR1 AArs1884054 和 RANKL Ars2148072（p = 0.032）或 RANKL Trs2200287（p = 0.007）的女性 LS1-4/AP 处的 BMD 较低。
ESR1 和 RANKL 这些 SNP 的基因型可能有助于预测绝经后妇女的骨质疏松症风险。
