scholarly journals Polymorphisms of the genes ABCG2, SLC22A12 and XDH and their relation with hyperuricemia and hypercholesterolemia in Mexican young adults

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 217
Author(s):  
Juan Manuel Vargas-Morales ◽  
Martha Guevara-Cruz ◽  
Celia Aradillas-García ◽  
Lilia G. Noriega ◽  
Armando Tovar ◽  
...  

Background: Hyperuricemia is a pathological condition associated with risk factors of cardiovascular disease. In this study, three genetic polymorphisms were genotyped as predisposing factors of hyperuricemia. Methods: A total of 860 Mexicans between 18 and 25 years of age were genotyped for the ABCG2 (rs2231142), SLC22A12 (rs476037), and XDH (rs1042039) polymorphisms, as predisposing factors of hyperuricemia. Biochemical parameters were measured by spectrophotometry, while genetic polymorphisms were analyzed by real-time PCR. An analysis of the risk of hyperuricemia in relation to the variables studied was carried out using a logistic regression. Results: Male sex, being overweight or obese, having hypercholesterolemia or having hypertriglyceridemia were factors associated with hyperuricemia (p ≤ 0.05). The ABCG2 polymorphism was associated with hyperuricemia (OR = 2.43, 95% CI: 1.41-4.17, p = 0.001) and hypercholesterolemia (OR = 4.89, 95% CI: 1.54-15.48, p = 0.003), employing a dominant model, but only in male participants. Conclusions: The ABCG2 (rs2231142) polymorphism increases the risk of hyperuricemia and hypercholesterolemia in young Mexican males.

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 217
Author(s):  
Juan Manuel Vargas-Morales ◽  
Martha Guevara-Cruz ◽  
Celia Aradillas-García ◽  
Lilia G. Noriega ◽  
Armando Tovar ◽  
...  

Background: Hyperuricemia is a pathological condition associated with risk factors of cardiovascular disease. In this study, three genetic polymorphisms were genotyped as predisposing factors of hyperuricemia. Methods: A total of 860 Mexicans (129 cases and 731 controls) between 18 and 25 years of age were genotyped for the ABCG2 (Q191K), SLC22A12 (517G>A), and XDH (518T>C) polymorphisms, as predisposing factors of hyperuricemia. Biochemical parameters were measured by spectrophotometry, while genetic polymorphisms were analyzed by real-time PCR. An analysis of the risk of hyperuricemia in relation to the variables studied was carried out using a logistic regression. Results: Male sex, being overweight or obese, having hypercholesterolemia or having hypertriglyceridemia were factors associated with hyperuricemia ( p ≤ 0.05). The ABCG2 polymorphism was associated with hyperuricemia (OR = 2.43, 95% CI: 1.41-4.17, p = 0.001) and hypercholesterolemia (OR = 4.89, 95% CI: 1.54-15.48, p = 0.003), employing a dominant model, but only in male participants. Conclusions: The ABCG2 (Q191K) polymorphism increases the risk of hyperuricemia and hypercholesterolemia in young Mexican males.


2021 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
T Heseltine ◽  
SW Murray ◽  
RL Jones ◽  
M Fisher ◽  
B Ruzsics

Abstract Funding Acknowledgements Type of funding sources: None. onbehalf Liverpool Multiparametric Imaging Collaboration Background Coronary artery calcium (CAC) score is a well-established technique for stratifying an individual’s cardiovascular disease (CVD) risk. Several well-established registries have incorporated CAC scoring into CVD risk prediction models to enhance accuracy. Hepatosteatosis (HS) has been shown to be an independent predictor of CVD events and can be measured on non-contrast computed tomography (CT). We sought to undertake a contemporary, comprehensive assessment of the influence of HS on CAC score alongside traditional CVD risk factors. In patients with HS it may be beneficial to offer routine CAC screening to evaluate CVD risk to enhance opportunities for earlier primary prevention strategies. Methods We performed a retrospective, observational analysis at a high-volume cardiac CT centre analysing consecutive CT coronary angiography (CTCA) studies. All patients referred for investigation of chest pain over a 28-month period (June 2014 to November 2016) were included. Patients with established CVD were excluded. The cardiac findings were reported by a cardiologist and retrospectively analysed by two independent radiologists for the presence of HS. Those with CAC of zero and those with CAC greater than zero were compared for demographic and cardiac risks. A multivariate analysis comparing the risk factors was performed to adjust for the presence of established risk factors. A binomial logistic regression model was developed to assess the association between the presence of HS and increasing strata of CAC. Results In total there were 1499 patients referred for CTCA without prior evidence of CVD. The assessment of HS was completed in 1195 (79.7%) and CAC score was performed in 1103 (92.3%). There were 466 with CVD and 637 without CVD. The prevalence of HS was significantly higher in those with CVD versus those without CVD on CTCA (51.3% versus 39.9%, p = 0.007). Male sex (50.7% versus 36.1% p= <0.001), age (59.4 ± 13.7 versus 48.1 ± 13.6, p= <0.001) and diabetes (12.4% versus 6.9%, p = 0.04) were also significantly higher in the CAC group compared to the CAC score of zero. HS was associated with increasing strata of CAC score compared with CAC of zero (CAC score 1-100 OR1.47, p = 0.01, CAC score 101-400 OR:1.68, p = 0.02, CAC score >400 OR 1.42, p = 0.14). This association became non-significant in the highest strata of CAC score. Conclusion We found a significant association between the increasing age, male sex, diabetes and HS with the presence of CAC. HS was also associated with a more severe phenotype of CVD based on the multinomial logistic regression model. Although the association reduced for the highest strata of CAC (CAC score >400) this likely reflects the overall low numbers of patients within this group and is likely a type II error. Based on these findings it may be appropriate to offer routine CVD risk stratification techniques in all those diagnosed with HS.


Hand ◽  
2021 ◽  
pp. 155894472110068
Author(s):  
Joanne Y. Zhang ◽  
Aneesh V. Samineni ◽  
David C. Sing ◽  
Alyssa Rothman ◽  
Andrew B. Stein

Background: The purpose of this study was to evaluate rates of distal radioulnar joint (DRUJ) fixation based on location of the radial shaft fracture and risk factors associated with postoperative complications following radial shaft open reduction internal fixation (ORIF). Methods: Adult patients who underwent isolated radial shaft ORIF from 2014 to 2018 were identified from American College of Surgeons National Surgical Quality Improvement Program database and stratified by fracture location and by the presence or absence of DRUJ fixation. Preoperative patient characteristics and postoperative complications were compared to determine risk factors associated with DRUJ fixation. Results: We identified 1517 patients who underwent isolated radial shaft ORIF, of which 396 (26.1%) underwent DRUJ fixation. Preoperative patient characteristics and postoperative complications were similar between cohorts. Distal radioulnar joint fixation was performed in 50 (30.7%) of 163 distal radial shaft fractures, 191 (21.8%) of 875 midshaft fractures, and 3 (13.0%) of 23 proximal shaft fractures ( P = .025). Risk factors for patients readmitted include male sex (odds ratio [OR] = 12.76, P = .009) and older age (OR = 4.99, P = .035). Risk factors for patients with any postoperative complication include dependent functional status (OR = 6.78, P = .02), older age (50-69 vs <50) (OR = 2.73, P = .05), and American Society of Anesthesiologists (ASA) ≥3 (OR = 2.45, P = .047). Conclusions: The rate of DRUJ fixation in radial shaft ORIF exceeded previously reported rates of concomitant DRUJ injury, especially among distal radial shaft fractures. More distally located radial shaft fractures are significantly associated with higher rates of DRUJ fixation. Male sex is a risk factor for readmission, whereas dependent functional status, older age, and ASA ≥3 are risk factors for postoperative complications.


2021 ◽  
Vol 36 (3) ◽  
pp. 299-309 ◽  
Author(s):  
Joshua Elliott ◽  
Barbara Bodinier ◽  
Matthew Whitaker ◽  
Cyrille Delpierre ◽  
Roel Vermeulen ◽  
...  

AbstractMost studies of severe/fatal COVID-19 risk have used routine/hospitalisation data without detailed pre-morbid characterisation. Using the community-based UK Biobank cohort, we investigate risk factors for COVID-19 mortality in comparison with non-COVID-19 mortality. We investigated demographic, social (education, income, housing, employment), lifestyle (smoking, drinking, body mass index), biological (lipids, cystatin C, vitamin D), medical (comorbidities, medications) and environmental (air pollution) data from UK Biobank (N = 473,550) in relation to 459 COVID-19 and 2626 non-COVID-19 deaths to 21 September 2020. We used univariate, multivariable and penalised regression models. Age (OR = 2.76 [2.18–3.49] per S.D. [8.1 years], p = 2.6 × 10–17), male sex (OR = 1.47 [1.26–1.73], p = 1.3 × 10–6) and Black versus White ethnicity (OR = 1.21 [1.12–1.29], p = 3.0 × 10–7) were independently associated with and jointly explanatory of (area under receiver operating characteristic curve, AUC = 0.79) increased risk of COVID-19 mortality. In multivariable regression, alongside demographic covariates, being a healthcare worker, current smoker, having cardiovascular disease, hypertension, diabetes, autoimmune disease, and oral steroid use at enrolment were independently associated with COVID-19 mortality. Penalised regression models selected income, cardiovascular disease, hypertension, diabetes, cystatin C, and oral steroid use as jointly contributing to COVID-19 mortality risk; Black ethnicity, hypertension and oral steroid use contributed to COVID-19 but not non-COVID-19 mortality. Age, male sex and Black ethnicity, as well as comorbidities and oral steroid use at enrolment were associated with increased risk of COVID-19 death. Our results suggest that previously reported associations of COVID-19 mortality with body mass index, low vitamin D, air pollutants, renin–angiotensin–aldosterone system inhibitors may be explained by the aforementioned factors.


Circulation ◽  
2021 ◽  
Vol 143 (Suppl_1) ◽  
Author(s):  
Joshua Elliott ◽  
Barbara Bodinier ◽  
Matthew Whitaker ◽  
Ioanna Tzoulaki ◽  
Paul Elliott ◽  
...  

Introduction: Studies of risk factors for severe/fatal COVID-19 to date may not have identified the optimal set of informative predictors. Hypothesis: Use of penalized regression with stability analysis may identify new, sparse sets of risk factors jointly associated with COVID-19 mortality. Methods: We investigated demographic, social, lifestyle, biological (lipids, cystatin C, vitamin D), medical (comorbidities, medications) and air pollution data from UK Biobank (N=473,574) in relation to linked COVID-19 mortality, and compared with non-COVID-19 mortality. We used penalized regression models (LASSO) with stability analysis (80% selection threshold from 1,000 models with 80% subsampling) to identify a sparse set of variables associated with COVID-19 mortality. Results: Among 43 variables considered by LASSO stability selection, cardiovascular disease, hypertension, diabetes, cystatin C, age, male sex and Black ethnicity were jointly predictive of COVID-19 mortality risk at 80% selection threshold (Figure). Of these, Black ethnicity and hypertension contributed to COVID-19 but not non-COVID-19 mortality. Conclusions: Use of LASSO stability selection identified a sparse set of predictors for COVID-19 mortality including cardiovascular disease, hypertension, diabetes and cystatin C, a marker of renal function that has also been implicated in atherogenesis and inflammation. These results indicate the importance of cardiometabolic comorbidities as predisposing factors for COVID-19 mortality. Hypertension was differentially highly selected for risk of COVID-19 mortality, suggesting the need for continued vigilance with good blood pressure control during the pandemic.


Circulation ◽  
2018 ◽  
Vol 138 (Suppl_1) ◽  
Author(s):  
Punag Divanji ◽  
Gregory Nah ◽  
Ian Harris ◽  
Anu Agarwal ◽  
Nisha I Parikh

Introduction: Characterized by significant left ventricular (LV) dysfunction and clinical heart failure (HF), peripartum cardiomyopathy (PPCM) has an incidence of approximately 1/2200 live births (0.04%). Prior studies estimate that approximately 25% of those with recovered LV function will have recurrent clinical PPCM during subsequent pregnancies, compared to 50% of those without recovered LV function. Specific predictors of recurrent PPCM have not been studied in cohorts with large numbers. Methods: From 2005-2011, we identified 1,872,227 pregnancies by International Classification of Diseases, 9th Revision (ICD-9) codes in the California Healthcare Cost and Utilization Project (HCUP) database, which captures over 95% of the California hospitalized population. Excluding 15,765 women with prior cardiovascular disease (myocardial infarction, coronary artery disease, stroke, HF, valve disease, or congenital heart disease), yielded n=1,856,462 women. Among women without prior cardiovascular disease, we identified index and subsequent pregnancies with PPCM to determine episodes of recurrent PPCM. We considered the following potential predictors of PPCM recurrence in both univariate and age-adjusted logistic regression models: age, race, hypertension, diabetes, smoking, obesity, chronic kidney disease, family history, pre-eclampsia, ectopic pregnancy, income, and insurance status. Results: In HCUP, n=783 women had pregnancies complicated by PPCM (mean age=30.8 years). Among these women, n=133 had a subsequent pregnancy (17%; mean age=28.1 years), with a mean follow-up of 4.34 years (±1.71 years). In this group of 133 subsequent pregnancies, n=14 (10.5%) were complicated by recurrent PPCM, with a mean time-to-event of 2.2 years (±1.89 years). Among the risk factors studied, the only univariate predictor of recurrent PPCM was grand multiparity, defined as ≥ 5 previous deliveries (odds ratio: 22; 95% confidence interval 4.43-118.22). The other predictors we studied were not significantly associated with recurrent PPCM in either univariate or multivariable models. Conclusion: In a large population database in California with 783 cases of PPCM over a 6-year period, 17% of women had a subsequent pregnancy, of which 10.5% had recurrent PPCM. In age-adjusted logistic regression models, grand multiparity was the only statistically significant predictor of recurrent PPCM.


2013 ◽  
Vol 2013 ◽  
pp. 1-8 ◽  
Author(s):  
Philip Wilson ◽  
Fiona McQuaige ◽  
Lucy Thompson ◽  
Alex McConnachie

Aims. To investigate factors associated with language delay in a cohort of 30-month-old children and determine if identification of language delay requires active contact with families.Methods. Data were collected at a pilot universal 30-month health contact. Health visitors used a simple two-item language screen. Data were obtained for 315 children; language delay was found in 33. The predictive capacity of 13 variables which could realistically be known before the 30-month contact was analysed.Results. Seven variables were significantly associated with language delay in univariate analysis, but in logistic regression only five of these variables remained significant.Conclusion. The presence of one or more risk factors had a sensitivity of 89% and specificity of 45%, but a positive predictive value of only 15%. The presence of one or more of these risk factors thus can not reliably be used to identify language delayed children, nor is it possible to define an “at risk” population because male gender was the only significant demographic factor and it had an unacceptably low specificity (52.5%). It is not possible to predict which children will have language delay at 30 months. Identification of this important ESSENCE disorder requires direct clinical contact with all families.


2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Rui He ◽  
Guoyou Wang ◽  
Ting Li ◽  
Huarui Shen ◽  
LijuanZhang

Abstract Background Postoperative ischemic stroke is a devastating complication following total hip arthroplasty (THA). The purpose of the current study was to investigate the incidence of postoperative acute ischemic stroke (AIS) in patients ≥70 years old with THA for hip fracture after 90 days and independent risk factors associated with 90-day AIS. Methods A multicenter retrospective study was conducted, patients ≥70 years old with THA for hip fracture under general anesthesia were included from February 2017 to March 2020. Patients with AIS within 90 days after THA were identified as AIS group; patients with no AIS were identified as no AIS group. The baseline characteristics and risk factors were collected, multivariable logistic regression was used to identify independent risk factors of 90-dayAIS. Results: 2517 patients (mean age 76.18 ± 6.01) were eligible for inclusion in the study. 2.50% (63/2517) of patients had 90-day AIS. Compared with no AIS, older age, diabetes, hyperlipidemia, atrial fibrillation (AF) and higher D-dimer value were more likely in patients with AIS (P < 0.05), and anticoagulant use was fewer in patients with AIS. ROC curve analysis showed that the optimal cut point of D-dimer for AIS was D-dimer≥4.12 μg/ml. Multivariate logistic regression analysis showed that D-dimer≥4.12 μg/ml [adjusted odds ratio (aOR), 4.44; confidence interval (CI), 2.50–7.72; P < 0.001], older age (aOR, 1.08; 95%CI, 1.03–1.12; P < 0.001), hyperlipidemia (aOR, 2.28; 95%CI, 1.25–4.16; P = 0.007), atrial fibrillation (aOR, 5.84; 95% CI, 1.08–15.68; P = 0.001), and diabetes (aOR, 2.60; 95% CI, 1.56–4.39; P < 0.001) were associated with increased risk of 90-day AIS after THA. Conclusions In conclusion, we found that the incidence of 90-day AIS in patients≥70 years old with THA for hip fracture was 2.5%. Older age, diabetes, hyperlipidemia, AF and higher D-dimer value were independent risk factors for 90-day AIS in patients≥70 years old with THA for hip fracture.


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