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

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

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.

MeSH terms

  • Absorptiometry, Photon
  • Aged
  • Bone Density / genetics*
  • Carrier Proteins / genetics
  • Cell Cycle Proteins / genetics
  • Cohort Studies
  • Estrogen Receptor alpha / genetics
  • Female
  • Gene Frequency
  • Haplotypes
  • Hip Fractures / genetics*
  • Humans
  • Linear Models
  • Linkage Disequilibrium
  • Mexico
  • Middle Aged
  • Osteoporosis, Postmenopausal / genetics*
  • Pelvic Bones / pathology
  • Polymorphism, Single Nucleotide*
  • Postmenopause*

Substances

  • CCDC170 protein, human
  • Carrier Proteins
  • Cell Cycle Proteins
  • ESR1 protein, human
  • Estrogen Receptor alpha
  • RMND1 protein, human