scholarly journals Two New Single-Nucleotide Polymorphisms in the COL1A1 Upstream Regulatory Region and Their Relationship to Bone Mineral Density

2002 ◽  
Vol 17 (3) ◽  
pp. 384-393 ◽  
Author(s):  
Natalia Garcia-Giralt ◽  
Xavier Nogués ◽  
Anna Enjuanes ◽  
Jordi Puig ◽  
Leonardo Mellibovsky ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Single Nucleotide Polymorphisms ◽  
Bone Mineral ◽  
Regulatory Region ◽  
Upstream Regulatory Region ◽  
Nucleotide Polymorphisms ◽  
Mineral Density ◽  
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 Primary Hyperparathyroidism and the Presence of Kidney Stones Are Associated with Different Haplotypes of the Calcium-Sensing Receptor

2007 ◽  
Vol 92 (1) ◽  
pp. 277-283 ◽  
Author(s):  
Alfredo Scillitani ◽  
Vito Guarnieri ◽  
Claudia Battista ◽  
Simona De Geronimo ◽  
Lucia Anna Muscarella ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Single Nucleotide Polymorphisms ◽  
Primary Hyperparathyroidism ◽  
Bone Mineral ◽  
Kidney Stones ◽  
Nucleotide Polymorphisms ◽  
Mineral Density ◽  
Calcium Sensing Receptor ◽  
Single Nucleotide ◽  
Calcium Sensing

Abstract Introduction: Three single-nucleotide polymorphisms in the calcium-sensing receptor gene (CASR) encoding the missense substitutions A986S, R990G, and Q1011E have been associated with normal variation in extracellular calcium homeostasis, both individually and in haplotype combination. The aim of this study was to examine haplotype associations in primary hyperparathyroidism (PHPT). Patients and Methods: Patients with sporadic PHPT (n = 237) were recruited from endocrine clinics and healthy controls (n = 433) from a blood donor clinic, and levels of serum calcium, albumin, and PTH were measured. In PHPT patients, urinary calcium/creatinine clearances and bone mineral density at spine and femoral neck were measured and the presence of kidney stones and vertebral fractures identified. The CASR single-nucleotide polymorphisms were haplotyped by allele-specific sequencing. Results: Four haplotypes (ARQ, SRQ, AGQ, and ARE) of eight were observed, in keeping with significant linkage disequilibrium, but haplotype frequencies did not show significant Hardy-Weinberg disequilibrium. The SRQ haplotype was more common in PHPT (125 of 474 alleles) than in controls (170 of 866 alleles, P = 0.006) and showed a significant (P = 0.006) gene-dosage effect. There was no significant association between haplotype and bone mineral density or fractures, but association with kidney stones was significant (P = 0.0007). In the stone-forming subgroup, the SRQ haplotype was underrepresented and AGQ overrepresented. Patients bearing the AGQ haplotype had an odds ratio of 3.8 (95% confidence interval, 1.30–11.3) for presentation with renal stones compared with the rest. Conclusion: Our data indicate that the CASR SRQ haplotype is significantly associated with PHPT in our population. Within the PHPT patient population, the AGQ haplotype is significantly associated with kidney stones.

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