Abstract
Postmenopausal osteoporosis is the most common metabolic bone disease among women. The Wnt signaling pathway has been known to be the critical regulator of osteoblastogenesis. Alterations in this mechanism may have consequences for bone remodeling in humans. The aim of the study was to evaluate the frequency of genotypes and alleles of single nucleotide polymorphism (SNP) rs4988321 and rs312009 of LRP5 in Polish postmenopausal women with osteopenia (n = 109) and osteoporosis (n = 333). Potential correlations between genetic polymorphisms, bone mineral density (BMD), risk for bone fractures, and other clinical parameters were analyzed. Genomic DNA was extracted from the blood samples and the sequence polymorphisms of LRP5 gene were detected using real-time polymerase chain reaction (RT-PCR) methods with melting curve analysis. We also calculated the odds ratio (OR) for the LRP5 genotypes and the alleles. Then, we evaluated the effect of the LRP5 polymorphism on T-score, Z-score, L2L4AM, L2L4YA, L2L4BMD, body mass index (BMI), and other clinical parameters. No statistically significant differences in the distribution of LRP5 rs312009 genotypes between the groups were observed. Furthermore, our findings indicate that there is no correlation between LRP5 genotypes and the clinical characteristics of women with osteopenia/osteoporosis. In contrast, there was an increased value of OR in heterozygotes for rs4988321, both in patients with osteopenia (OR = 1.47) and in those with osteoporosis (OR = 1.33). In our study, we were not able to calculate the OR parameter for the AA genotype due to its low prevalence in the population. Our results suggest that the Val667Met LRP5 (rs312009) polymorphism may contribute to an elevated risk for fractures in postmenopausal Polish women.
Highlights
Osteoporosis is typically manifested by disturbances in the microstructure of bone tissue and increased susceptibility to bone fracture due to reduced bone mass
The aim of the study was to evaluate the frequency of genotypes and alleles of single nucleotide polymorphism (SNP) rs4988321 and rs312009 of lipoprotein receptor-related protein 5 (LRP5) in Polish postmenopausal women with osteopenia (n = 109) and osteoporosis (n = 333)
Our findings indicate that there is no correlation between LRP5 genotypes and the clinical characteristics of women with osteopenia/osteoporosis
Summary
Osteoporosis is typically manifested by disturbances in the microstructure of bone tissue and increased susceptibility to bone fracture due to reduced bone mass. Genetic factors are believed to constitute 50–80% of individual differences in bone mineral density (BMD).[1] Studies on the background of skeletal dysplasias with decreased bone mass, e.g., brittle bone disease and the osteoporosis-pseudoglioma syndrome, pointed to the role of the Wnt/β-catenin pathway – including low-density lipoprotein receptor-related protein 5 (LRP5) and WNT1 – in the regulation of bone tissue homeostasis.[2,3,4]. The Wnt signaling pathway has been known to be the critical regulator of osteoblastogenesis. Alterations in this mechanism may have consequences for bone remodeling in humans
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