AI Article Synopsis

  • The study examines the relationship between specific genetic polymorphisms in LRP5 and TNFRSF11B and variations in bone mineral density (BMD) among 583 postmenopausal Maya-Mestizo women.
  • The researchers found that the Val genotype of the LRP5 polymorphism (rs3736228) was significantly linked to changes in BMD at various skeletal sites, while the TNFRSF11B polymorphisms showed no association.
  • The findings suggest that the LRP5 variant plays an important role in BMD variations, with the Val allele being the most common in the studied population.

Article Abstract

Objective: Osteoporosis is a complex disease characterized principally by low bone mineral density (BMD), which is determined by an interaction of genetic, metabolic, and environmental factors. The aim of this study was to analyze the possible association among one polymorphism of LRP5 and three polymorphisms of TNFRSF11B as well as their haplotypes with BMD variations in Maya-Mestizo postmenopausal women.

Methods: We studied 583 postmenopausal women of Maya-Mestizo ethnic origin. A structured questionnaire for risk factors was applied and BMD was measured in lumbar spine (LS), total hip (TH), and femoral neck (FN) by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. One single-nucleotide polymorphism of LRP5 (rs3736228, p.A1330V) and three of TNFRSF11B (rs4355801, rs2073618, and rs6993813) were studied using real-time PCR allelic discrimination for genotyping. Differences between the means of the BMDs according to the genotype were analyzed with covariance. Deviations from Hardy-Weinberg equilibrium were tested. Pairwise linkage disequilibrium between single nucleotide polymorphisms was calculated by direct correlation r(2), and haplotype analysis of TNFRSF11B was conducted.

Results: The Val genotype of the rs3736228 (p.A1330V) of LRP5 was significantly associated with BMD variations at the LS, TH, and FN. None of the three polymorphisms of TNFRSF11B was associated with BMD variations.

Conclusions: Our results show that p.A1330V was significantly associated with BMD variations at all three skeletal sites analyzed; the Val allele and the Val/Val genotype were those most frequently found in our population.

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http://dx.doi.org/10.1002/ajhb.22464DOI Listing

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