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RMND1/CCDC170-ESR1 单核苷酸多态性与绝经后妇女髋部骨折和骨质疏松的相关性。

Association of RMND1/CCDC170-ESR1 single nucleotide polymorphisms with hip fracture and osteoporosis in postmenopausal women.

机构信息

a Department of Genetics , National Institute of Rehabilitation , Mexico City , Mexico.

b Genomics of Bone Metabolism Laboratory , National Institute of Genomic Medicine (INMEGEN) , Mexico City , Mexico.

出版信息

Climacteric. 2019 Feb;22(1):97-104. doi: 10.1080/13697137.2018.1538339. Epub 2019 Jan 2.

DOI:10.1080/13697137.2018.1538339
PMID:30601066
Abstract

OBJECTIVE

This study aimed to investigate the association of seven single nucleotide polymorphisms (SNPs) on the RMND1, CCDC170, and ESR1 genes with osteoporosis or hip fracture in a postmenopausal Mexican population.

METHODS

We included a group of 400 postmenopausal women from the Health Workers Cohort Study from the Mexican Institute of Social Security. As a replication sample, we recruited 423 postmenopausal women from the National Institute of Rehabilitation. Demographic data were collected through a structured questionnaire. Bone mineral density was assessed using dual X-ray absorptiometry. Individuals were classified as normal, osteopenia, osteoporosis, and fracture, according to World Health Organization criteria. Genotyping was performed using predesigned TaqMan Probes. Linear regression analysis was used to investigate association.

RESULTS

All of the analyzed SNPs showed association with at least one of the phenotypes of the study groups. In addition, we observed a region with linkage disequilibrium within the ESR1 gene in all groups.

CONCLUSION

This study shows that an association of the SNPs can exist with osteopenia, osteoporosis, or fragility fracture. Our results agree with data published elsewhere, supporting the potential of these loci for the identification of the population at risk. However, additional studies are required to determine the extent of this association for other geographic regions of Mexico.

摘要

目的

本研究旨在探讨 RMND1、CCDC170 和 ESR1 基因上的 7 个单核苷酸多态性(SNP)与墨西哥绝经后人群骨质疏松或髋部骨折的关系。

方法

我们纳入了来自墨西哥社会保障研究所卫生工作者队列研究的一组 400 名绝经后女性。作为复制样本,我们招募了来自国家康复研究所的 423 名绝经后女性。通过结构化问卷收集人口统计学数据。使用双能 X 线吸收仪评估骨密度。根据世界卫生组织的标准,个体被分类为正常、骨量减少、骨质疏松症和骨折。使用预设的 TaqMan 探针进行基因分型。线性回归分析用于研究关联。

结果

所有分析的 SNP 都与研究组的至少一种表型有关。此外,我们还观察到所有组中 ESR1 基因内存在连锁不平衡区域。

结论

本研究表明 SNP 的关联可能存在于骨量减少、骨质疏松症或脆性骨折中。我们的结果与其他地方发表的数据一致,支持这些位点用于识别高危人群的潜力。然而,需要进一步的研究来确定这些关联在墨西哥其他地理区域的程度。

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