Dataset Information

Parathyroid Hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism.

ABSTRACT: In this study we evaluated whether single nucleotide polymorphisms (SNPs) in the genes encoding PTH, VDR, CYP24A1, and CYP27B1 were associated with mandibular retrognathism (MR). Samples from biologically-unrelated Brazilian patients receiving orthodontic treatment were included in this study. Pre-orthodontic lateral cephalograms were used to determine the phenotype. Patients with a retrognathic mandible were selected as cases and those with an orthognathic mandible were selected as controls. Genomic DNA was used for genotyping analysis of SNPs in PTH (rs694, rs6256, and rs307247), VDR (rs7975232), CYP24A1 (rs464653), and CYP27B1 (rs927650). Chi-squared or Fisher's tests were used to compare genotype and allele distribution among groups. Haplotype analysis was performed for the SNPs in PTH. The established alpha was p < 0.05. Multifactor dimensionality reduction (MDR) was used to identify SNP-SNP interactions. A total of 48 (22 males and 26 females) MR and 43 (17 males and 26 females) controls were included. The linear mandibular and the angular measurements were statistically different between MR and controls (p < 0.05). In the genotype and allele distribution analysis, the SNPs rs694, rs307247, and rs464653 were associated with MR (p < 0.05). MDR analyses predicted the best interaction model for MR was rs694-rs927650, followed by rs307247-rs464653-rs927650. Some haplotypes in the PTH gene presented statistical significance. Our results suggest that SNPs in PTH, VDR, CYP24A1, and CYP27B1 genes are associated with the presence of mandibular retrognathism.

SUBMITTER: Kuchler EC

PROVIDER: S-EPMC8147469 | biostudies-literature | 2021 May

REPOSITORIES: biostudies-literature

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<i>Parathyroid Hormone</i> Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism.

Küchler Erika Calvano EC Reis Caio Luiz Bitencourt CLB Marañón-Vásquez Guido G Nelson-Filho Paulo P Matsumoto Mírian Aiko Nakane MAN Stuani Maria Bernadete Sasso MBS Oliveira Maria Angélica Hueb de Menezes MAHM Proff Peter P Kirschneck Christian C

Journal of personalized medicine 20210502 5

In this study we evaluated whether single nucleotide polymorphisms (SNPs) in the genes encoding PTH, VDR, CYP24A1, and CYP27B1 were associated with mandibular retrognathism (MR). Samples from biologically-unrelated Brazilian patients receiving orthodontic treatment were included in this study. Pre-orthodontic lateral cephalograms were used to determine the phenotype. Patients with a retrognathic mandible were selected as cases and those with an orthognathic mandible were selected as controls. Ge ...[more]

PMID: 34063310

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Project description:ObjectiveSarcopenia is highly prevalent in patients undergoing peritoneal dialysis (PD), contributing to adverse clinical outcomes. Animal models suggest that parathyroid hormone (PTH) induces muscle wasting through adipose tissue browning. However, the relationship between PTH dysregulation and sarcopenia in the PD population remains unclear. Thus, we aimed to explore the association between serum intact PTH levels and sarcopenia in PD patients.MethodsWe conducted a cross-sectional analysis using data from the Tzu-Chi PD cohort, comprising 186 PD patients with a mean age of 57.5 ± 14.1 years. Basic information, comorbidities, serum intact PTH levels, and other biochemical data were retrieved. Atherosclerotic cardiovascular disease (ASCVD) includes any history of coronary artery disease, myocardial infarction, peripheral arterial disease, and stroke. All patients were evaluated for appendicular skeletal muscle mass (ASM) using the Body Composition Monitor (BCM), handgrip strength, and 6-m usual gait speed. Sarcopenia was defined based on the consensus of the Asian Working Group for Sarcopenia 2019. Relative over-hydration (OH) was also assessed using BCM.ResultsThe overall prevalence of sarcopenia was 38.2%. Across three groups of intact PTH levels (<150 pg/mL, 150-300 pg/mL, and >300 pg/mL), the prevalence rates of sarcopenia were 29.7, 36.4, and 46.2%, respectively (p for trend = 0.044). In the unadjusted model, age, ASCVD, subjective global assessment score, body mass index, relative OH, serum albumin, creatinine, phosphorus, and log-transformed intact PTH levels were significantly associated with sarcopenia. After full adjustment for all above factors, age (odds ratio [OR] = 1.04, 95% confidence interval [CI] = 1.00-1.08), ASCVD (OR = 4.12, 95% CI = 1.34-12.65), BMI (OR = 0.51, 95% CI = 0.41-0.64), relative OH (OR = 1.04, 95% CI = 1.00-1.07), log-transformed intact PTH levels (OR = 3.72, 95% CI = 1.51-9.14) were independently associated sarcopenia among PD patients.ConclusionAmong PD patients, elevated serum intact PTH levels are independently associated with sarcopenia. Further longitudinal studies are warranted to confirm their causal relationship.

Project description:BackgroundThe number of patients ⩾65 years who require maintenance hemodialysis (MHD) is increasing. Although reduced bone turnover in older patients receiving hemodialysis, as reflected by lower serum intact parathyroid hormone (iPTH) and phosphate (P) levels, has been reported, focus on the association between abnormal bone metabolism and the risk of death in older patients receiving MHD has been limited.MethodsWe retrospectively examined data from the Beijing Hemodialysis Quality Control and Improvement Center for 1410 older patients who underwent hemodialysis from 1 January 2012 to 31 December 2016. Baseline, time-dependent (TD) Cox proportional hazards models and Kaplan-Meier analyses were used to evaluate the association between the markers of mineral and bone disorder (MBD) [calcium (Ca), P, and iPTH] and survival. The Kidney Disease: Improving Global Outcomes (KDIGO) target ranges were included as reference values.ResultsSerum P levels >2.49 mmol/l increased the risk of all-cause death [hazard ratio (HR): 1.46; 95% confidence interval (CI): 1.04-2.07; p = 0.030] and cardiovascular death (HR: 2.01; 95%CI: 1.21-3.34; p = 0.007); iPTH levels >600 pg/ml increased the risk of cardiovascular death (HR: 1.95; 95%CI: 1.20-3.15; p = 0.007). Baseline results and TD Cox analyses were similar. All three MBD parameters were within the respective target ranges at least once during the follow-up period in 399 (28.3%) patients, and these patients had better survival rates than those who achieved two of the three target ranges (715/1410 patients; 50.7%); those who achieved one or no target range (296/1410; 21.0%) had the lowest survival rate (all-cause death: log-rank chi square = 83.96, p < 0.001; cardiovascular death: log-rank chi square = 47.06, p < 0.001).ConclusionOlder patients undergoing MHD who achieved the KDIGO target levels for any two or three MBD parameters had lower risks of all-cause and cardiovascular death.

Dataset Information

Parathyroid Hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism.

Publications

<i>Parathyroid Hormone</i> Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism.

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