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

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

Author information

1
a Department of Genetics , National Institute of Rehabilitation , Mexico City , Mexico.
2
b Genomics of Bone Metabolism Laboratory , National Institute of Genomic Medicine (INMEGEN) , Mexico City , Mexico.
3
c National Council for Science and Technology (CONACYT) - Genomics of Bone Metabolism Laboratory , National Institute of Genomic Medicine (INMEGEN) , Mexico City , Mexico.
4
d Subdirection of Development of Clinical Applications , National Institute of Genomic Medicine (INMEGEN) , Mexico City , Mexico.
5
e Academic Unit in Epidemiological Research, Research Center in Policies, Population and Health, School of Medicine , National Autonomous University of Mexico , Mexico City , Mexico.
6
f Center for Population Health Research , National Institute of Public Health (INSP) , Cuernavaca , Mexico.

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.

KEYWORDS:

Osteoporosis; bone mineral density; genetic association; hip fracture; single nucleotide polymorphism

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