scholarly journals TL 18147 - Single-nucleotide polymorphisms in the P2x7 receptor gene are associated with bone mineral density and ankle fractures

2019 ◽  
Vol 13 (Supl 1) ◽  
pp. 93S
Author(s):  
Kelly Cristina Stéfani ◽  
Ciro Dresh Martinhago ◽  
Túlio Diniz Fernandes
Keyword(s):  
Bone Mineral Density ◽  
Single Nucleotide Polymorphisms ◽  
P2x7 Receptor ◽  
Receptor Gene ◽  
Intervention Group ◽  
Ankle Fractures ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Mineral Density ◽  
Single Nucleotide

Objective: The objective of this study is to determine the associations among genetic variations in the P2X7 receptor gene, decreased bone mineral density (BMD), and the risk of osteoporosis in patients aged older than 50 years with ankle fractures. Methods: Patients were genotyped for 15 nonsynonymous single-nucleotide polymorphisms (SNPs) in the P2X7 gene. The sample was divided into two groups according to the bone densitometry results: an intervention group with osteopenia (T scores between –1.0 and –2.5) or osteoporosis (T scores ≤ –2.5) and a control group with values within the normal range (T scores ≥ –1). A total of 121 patients were evaluated: 65 in the intervention group and 56 in the control group. Results: The results suggested that SNPs 1, 4, 11, 13, 14, and 15 were loss-of-function (LOF) variants. SNP 12 was also associated with LOF in our population, but its RNA expression has not been analyzed to date. Conclusions: In conclusion, we demonstrate that functional polymorphisms in P2X7 are associated with BMD and with an increased risk of ankle fractures. The limitations of our study are its focus on nonsynonymous polymorphisms, which do not cover all genetic variations in P2X7, and its small sample size compared with the international literature. A strength of this study is that it is the first to evaluate P2X7 in the Brazilian population.

scholarly journals Single-Nucleotide Polymorphisms in the P2x7 Receptor Gene are Associated with Bone Mineral Density and Ankle Fractures

2019 ◽  
Vol 4 (4) ◽  
pp. 2473011419S0007
Author(s):  
Kelly Cristina Stéfani ◽  
Túlio Diniz Fernandes
Keyword(s):  
Bone Mineral Density ◽  
Bone Mineral ◽  
P2x7 Receptor ◽  
Receptor Gene ◽  
Ankle Fractures ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Loss Of Function ◽  
Mineral Density ◽  
T Score

Category: Ankle, Basic Sciences/Biologics, Trauma, Osteoporosis Introduction/Purpose: The objective of this study is to determine the associations among genetic variations in the P2X7 receptor gene, decreased bone mineral density (BMD), and the risk of osteoporosis in patients older than 50 years with ankle fractures. Methods: A Level-1 diagnostic study was conducted. Patients over 50 years of age with ankle fractures who had undergone surgical treatment were divided into two groups following the result of a bone densitometry: a study group with osteopenia (bone mineral density T score between -1 and -2.5) or osteoporosis (bone mineral density T score = -2.5) and the control group with normal values (bone mineral density T score = -1). Exclusion criteria were alterations that led to secondary osteoporosis. Patients were genotyped for 15 nonsynonymous single nucleotide polymorphisms (SNPs) within the P2X7 receptor (numbered from 1 to 15) obtained from saliva. We evaluated 121 patients with ankle fractures, 56 being from the control group, and 65 from the study group. All patients were sedentary, did not take any medication for the treatment of osteoporosis, did not smoke, and had suffered a low-impact trauma. Results: The grouped assessment of the SNP alterations showed that if a gene has three or more SNP variants (36.4% of the 121 patients), out of the 15 possibilities, it is altered with clinical repercussions related to the loss or gain of the function of the gene. In evaluating the SNP alterations individually, the results suggest that: SNPs 1,4,14, and 15 are loss of function variants; SNPs 5 and 10 are described as loss of function variants; however, they have no influence on our study population; SNPs 11 and 13 are loss of function variants and not gain of function function as is described in the literature; and SNP 12 was associated with a loss of function in our population. Conclusion: In conclusion, we demonstrate that functional polymorphisms in P2X7 are associated with BMD and with an increased risk of ankle fractures. The limitations of our study are its focus on non-synonymous polymorphisms, which do not cover all genetic variations in P2X7, and its small sample size compared to the international literature. One of this study’s strengths is the fact it is the first to evaluate P2X7 in the Brazilian population.

Single Nucleotide Polymorphisms in the P2X7 Receptor Gene are Associated with Stress Fracture Risk

2014 ◽  
Vol 46 ◽  
pp. 37-38
Author(s):  
Ian Varley ◽  
David C. Hughes ◽  
Julie P. Greeves ◽  
Trent Stellingwerff ◽  
Craig Ranson ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Fracture Risk ◽  
Stress Fracture ◽  
P2x7 Receptor ◽  
Receptor Gene ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Pharmacogenomic effects of β-blocker use on femoral neck bone mineral density

2021 ◽  
Author(s):  
Kathleen T Nevola ◽  
Archana Nagarajan ◽  
Alexandra C Hinton ◽  
Katerina Trajanoska ◽  
Melissa M Formosa ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Single Nucleotide Polymorphisms ◽  
Femoral Neck ◽  
Bone Mineral ◽  
Nucleotide Polymorphisms ◽  
Rotterdam Study ◽  
Mineral Density ◽  
Single Nucleotide ◽  
Β Blocker ◽  
Using Data

Abstract Context Recent studies have shown that β-blocker (BB) users have a decreased risk of fracture and higher bone mineral density (BMD) compared to non-users, likely due to the suppression of adrenergic signaling in osteoblasts, leading to increased BMD. There is also variability in the effect size of BB use on BMD in humans, which may be due to pharmacogenomic effects. Objective To investigate potential single nucleotide polymorphisms (SNPs) associated with the effect of BB use on femoral neck BMD, we performed a cross-sectional analysis using clinical data, dual-energy X-ray absorptiometry, and genetic data from the Framingham Heart Study’s (FHS) Offspring Cohort. We then sought to validate our top four genetic findings using data from the Rotterdam Study, the BPROOF Study, the MOFS, and the Hertfordshire Cohort Study. Design We used sex-stratified linear mixed models to determine SNPs that had a significant interaction effect with BB use on femoral neck (FN) BMD across 11 gene regions. We also evaluated the association of our top single nucleotide polymorphisms (SNPs) from the FHS with microRNA (miRNA) expression in blood and identified potential miRNA-mediated mechanisms by which these SNPs may impact FN BMD. Results One polymorphism (rs11124190 in HDAC4) was validated in females using data from the Rotterdam Study, while another (rs12414657 in ADRB1) was validated in females using data from the MOFS. We performed an exploratory meta-analysis of all 5 studies for these polymorphisms, which further validated our findings. Conclusions This analysis provides a starting point for investigating the pharmacogenomic effects of BB use on BMD measures.

Association of single nucleotide polymorphisms in the promoter region of the pro-opiomelanocortin gene (POMC) with low bone mineral density in adult women.

2020 ◽  
Author(s):  
Lungwani Muungo
Keyword(s):  
Bone Mineral Density ◽  
Single Nucleotide Polymorphisms ◽  
Bone Mineral ◽  
Promoter Region ◽  
Total Cholesterol Level ◽  
Adult Women ◽  
Nucleotide Polymorphisms ◽  
Mineral Density ◽  
Single Nucleotide ◽  
Plasma Total Cholesterol Level

Among multiple factors influencing osteoporosis,genetic variations involved in bone-mineralmetabolism can affect risks predisposing to the diseaseonset. Here, we studied single-nucleotide polymorphisms(SNPs) in the pro-opiomelanocortin (POMC)gene for possible association with bone mineral density(BMD) among 384 adult Japanese women and observedsignificant correlation between adjusted BMD and threeSNPs in the promoter region (r>0.14, p<0.01). Themost significant correlation was observed for ?2353G/A(r=?0.16, p=0.002); homozygous carriers of the major(G) allele had the highest BMD (0.405±0.054 g/cm2)while heterozygous carriers were intermediate(0.390±0.053 g/cm2) and homozygous A-allele carriershad the lowest BMDs (0.369±0.048 g/cm2). Althoughno association was detected between these SNPs andbody weight or body mass index (BMI), significantassociation was detected between the ?2313A/C genotypeand plasma total cholesterol level (r=?0.12,p=0.019). We propose that POMC is among the likelysusceptibility genes for osteoporosis and may also beinvolved in dyslipidemia.

scholarly journals Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures

2012 ◽  
Vol 20 (6) ◽  
pp. 675-681 ◽  
Author(s):  
Niklas R Jørgensen ◽  
Lise B Husted ◽  
Kristen K Skarratt ◽  
Leanne Stokes ◽  
Charlotte L Tofteng ◽  
...  
Keyword(s):  
Bone Loss ◽  
Single Nucleotide Polymorphisms ◽  
Vertebral Fractures ◽  
P2x7 Receptor ◽  
Receptor Gene ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Post Menopausal
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