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Purpose: We assessed the risk of gout in the Taiwan Biobank population by applying various machine learning algorithms. The study aimed to identify crucial risk factors and evaluate the performance of different models in gout prediction. Patients and Methods: This study analyzed data from 88,210 individuals in the Taiwan Biobank, identifying 19,338 cases of gout and 68,872 controls. After data cleaning and propensity score matching for gender and age, the final analytical sample comprised 38,676 individuals (19,338 gout cases and 19,338 controls). Five machine learning models were used: Bayesian Network (BN), Random Forest (RF), Gradient Boosting (GB), Logistic Regression (LR), and Neural Network (NN). The predictive performance was evaluated using a split dataset (80% training set and 20% test set). Results: Variable importance analysis was performed to identify key variables, with uric acid and gender emerging as the most influential risk factors. Descriptive data highlighted significant differences between the control group and gout patients, with a higher prevalence of gout in men (51.36% vs 48.64%). Both the RF and GB demonstrated high performance across multiple metrics, with RF consistently achieving a high area under the curve (AUC) of 0.986 to 0.987, alongside excellent sensitivity (0.945– 0.947) and specificity (0.998– 0.999). GB also performed robustly, with AUC values around 0.987– 0.988 and maintaining high sensitivity (0.944– 0.950) and specificity (0.995– 0.999) across different model variations. The F1 scores for both models (GB and RF) indicate strong predictive capabilities, with values around 0.971– 0.972. Conclusion: The RF and GB demonstrated exceptional accuracy in predicting gout status, particularly when incorporating genetic data alongside clinical factors. These findings underscore the potential for integrating machine learning models with genetic information to enhance gout prediction accuracy in clinical practice. [ABSTRACT FROM AUTHOR]

Background: Parkinson's disease (PD) is a complex neurodegenerative disease with an elusive etiology that involves the interaction between genetic, behavioral, and environmental factors. Recently, epigenetic modifications, particularly DNA methylation, have been recognized to play an important role in the onset of PD. Glycoprotein non-metastatic melanoma protein B (GPNMB), a type I transmembrane protein crucial for immune cell activation and maturation, has emerged as a potential biomarker for the risk of PD. This research aims to investigate the influence of exercise and gender on the regulation of methylation levels of GPNMB cg17274742 in individuals. Methods: We analyze data from 2,474 participants in the Taiwan Biobank, collected from 2008 and 2016. Methylation levels at the GPNMB cg17274742 CpG site were measured using Illumina Infinium MethylationEPIC beads. After excluding individuals with incomplete data or missing information on possible risk factors, our final analysis included 1,442 participants. We used multiple linear regression models to assess the association between sex and exercise with adjusted levels of GPNMB cg17274742 for age, BMI, smoking, drinking, coffee consumption, serum uric acid levels, and hypertension. Results: Our results demonstrated that exercise significantly influenced the methylation levels of GPNMB cg17274742 in males (β = -0.00242; p = 0.0026), but not in females (β = -0.00002362; p = 0.9785). Furthermore, male participants who exercised showed significantly lower levels of methylation compared to the reference groups of the female and non-exercising reference groups (β = -0.00357; p = 0.0079). The effect of the interaction between gender and exercise on the methylation of GPNMB cg17274742 was statistically significant (p = 0.0078). Conclusion: This study suggests that gender and exercise can modulate GPNMB cg17274742, with hypomethylation observed in exercise men. More research is needed to understand the underlying mechanisms and implications of these epigenetic changes in the context of risk and prevention strategies. [ABSTRACT FROM AUTHOR]

In various cross-sectional and longitudinal studies, exercise has been associated with cardiometabolic outcomes, including high-density lipoprotein (HDL) cholesterol. Exercise-induced changes in HDL cholesterol seem to be affected by genetic polymorphisms. In this study, we examined whether variant APOE rs7412 is involved in the association between HDL cholesterol and exercise. From adults assessed in Taiwan Biobank (TWB) between 2008 and 2019, we analyzed data from 57,638 normolipidemic subjects. To examine the association between exercise, APOE rs7412, and HDL cholesterol, a multiple linear regression model was used. A higher HDL was associated with both aerobic exercise (regression coefficient [mg/dL] beta- (β), 1.112; 95% confidence interval (CI); 0.903-1.322) and resistance exercise (β, 2.530; 95% CI, 2.093-2.966). In comparison with the APOE rs7412-CC genotype, the β was 2.589 (95% CI, 2.329-2.848) among those with the CT + TT genotype. Compared to adults who had the CC genotype and did not exercise (the CC/no exercise group), the β-coefficient determined for the different genotype and exercise groups was 1.135 (95% CI, 0.911-1.359) for the CC genotype and aerobic exercise group, 2.753 (95% CI, 2.283-3.322) for the CC genotype and resistance exercise group, 2.705 (95% CI, 2.390-3.020) for the CT + TT genotype and no exercise group, 3.682 (95% CI, 3.218-4.146) for the CT + TT genotype and aerobic exercise group, and 3.855 (95% CI, 2.727-4.982) for the CT + TT genotype and resistance exercise group, respectively. This study demonstrates that self-reported aerobic and resistance exercise both raised HDL levels, yet resistance exercise was associated with a greater increase, particularly among Taiwanese subjects carrying the APOE rs7412-CT+TT genotype. [ABSTRACT FROM AUTHOR]

Background: Glycosylated hemoglobin (HbA1c) reflects the average blood sugar over the past eight to twelve weeks. Several demographic and lifestyle factors are known to affect HbA1c levels. We evaluated the association of HbA1c with aerobic and resistance exercise in non-diabetic Taiwanese adults based on the waist-hip ratio (WHR). Methods: We conducted this study based on TWB data collected from 90,958 individuals between 2008 and 2019. We estimated the Beta (β) coefficient and 95% confidence intervals (CI) for HbA1c using multivariate regression models. Results: Based on the multivariate analysis, lower HbA1c levels were associated with both resistance exercise (β-coefficient = -0.027, 95% CI -0.037 to -0.017) and aerobic exercise (β-coefficient = 0.018, 95% CI, -0.023 to -0.013). Higher HbA1c levels were associated with abnormal WHR compared to normal WHR (β-coefficient = 0.091, 95% CI, 0.086 to 0.096). We detected an interaction between exercise and WHR (p for interaction = 0.0181). To determine the magnitude of the interaction, we performed additional analyses (with the reference group being 'abnormal WHR with no exercise') and observed substantial decreases in HbA1c regardless of the WHR and exercise category. However, the largest reduction occurred in the 'normal WHR and resistance exercise' group (β = -0.121, 95% CI, -0.132 to -0.109). Conclusions: We found that normal resistance exercise, coupled with a normal WHR was significantly associated with lower HbA1c levels among non-diabetic individuals in Taiwan. [ABSTRACT FROM AUTHOR]

Purpose: Stroke is a complex health condition caused by multiple risk factors. We investigated whether the Cytochrome P450 2C9 (CYP2C9) rs4918758 polymorphism and sex were independently and interactively associated with ischemic stroke risk among Taiwan Biobank (TWB) participants. Material and Methods: We analyzed TWB data pertaining to 9197 female and 8625 male individuals. Data collected between 2008 and 2015 were linked to medical records in the National Health Insurance Database (NHIRD). Based on multiple logistic regression analyses, we estimated odds ratios (OR) and 95% confidence intervals (CI) for ischemic stroke. Results: We found that 441 women and 468 men had ischemic stroke. There were no differences in the risk of ischemic stroke between individuals with the TC/CC genotype and those with the TT genotype [OR (95% CI) = 1.04 (0.90– 1.21)]. When compared to women, men had an OR of 1.03 (95% CI = 0.87– 1.22) for ischemic stroke. Based on further analysis, sex was found to interact with polymorphism rs4918758 (p for interaction = 0.0019). After categorizing by sex, men with TC/CC genotype showed significant ORs but not women [OR (95% CI) = 1.32 (1.07– 16.33) vs 0.83 (0.68– 1.00)]. Further stratification by genotype showed that in comparison with their female counterparts, men with the TT and TC/CC genotypes had ORs of 0.59 (95% CI = 0.44– 0.80) and 1.36 (95% CI = 1.10– 1.68), respectively. Conclusion: According to our study, the TT genotype of rs4918758 was associated with a reduced risk of ischemic stroke in Taiwanese men when compared to women, whereas the TC/CC genotype was associated with a greater risk. [ABSTRACT FROM AUTHOR]

Type 2 diabetes (T2D) and liver cirrhosis remain significant public health threats in Taiwan. These conditions are reported to be associated with the rs738409 polymorphism of the patatin-like phospholipase domain-containing protein three gene (PNPLA3) in European populations. We assessed the effect of T2D and PNPLA3 rs738409 polymorphism on liver cirrhosis among Taiwan Biobank (TWB) participants. In total, 17,985 participants in TWB had their health records linked to the National Health Insurance Research Database (NHIRD). Participants included those who visited the assessment centers between 2008 and 2015, with an age range between 30 and 70 years of age. We performed logistic regression analysis to investigate the odds ratios (OR) for liver cirrhosis among participants based on the T2D status and rs738409 genotypes. Genotyping was performed using the Axiom Genome-Wide TWB Array Plate. In our analysis, 150 of the 17,619 eligible participants were identified as cirrhosis cases. Based on the univariate analysis, liver cirrhosis was positively associated with T2D (OR, 1.83; 95% CI 1.23–2.70) whereas, the variant rs738409 was not (regardless of the genetic model). The variant and T2D, however, showed significant interactions in the additive, genotype, and dominant models (p values of 0.0302, 0.0395, and 0.0455, respectively). We observed a statistically significant association between T2D and liver cirrhosis and variant rs738409 with an OR of 1.71 (95% CI, 1.03–2.84) for individuals carrying a G allele compared to those with a C allele and 2.92 (95% CI 1.07–7.99) for GG compared to CC individuals. According to our study, Taiwanese adults with T2D and the rs738409 GG genotype are more likely to develop liver cirrhosis. [ABSTRACT FROM AUTHOR]

Purpose: Ischemic stroke accounts for approximately 85% of all strokes. Risk factors include atrial fibrillation, metabolic disorders, and genetic and lifestyle factors. There is limited evidence to support the association between atrial fibrillation and the risk of ischemic stroke based on genetic variants. We assessed the relationship between ischemic stroke and atrial fibrillation among participants in Taiwan Biobank (TWB) based on the rs2860905 variant of the cytochrome P450 Family 2 Subfamily C Member 9 (CYP2C9) gene. Materials and Methods: Using logistic regression analysis, we estimated the odds ratios (OR) and 95% confidence intervals (CI) for ischemic stroke among 17,726 biobank adults recruited from 2008 through 2015. Results: Of the eligible participants (n = 17,726), 906 were identified with ischemic stroke. Atrial fibrillation was positively associated with ischemic stroke (OR=3.70; 95% CI, 2.21– 6.20), whereas the rs2860905 variant was not. The OR for ischemic stroke among those with GA/AA genotype was 1.00 (95% CI, 0.82– 1.22) compared to those with the GG genotype. Based on the genotype-stratified analysis, the OR for ischemic stroke was 4.68 (95% CI, 2.70– 8.09) among individuals with GG genotype who had atrial fibrillation compared to those who did not. Conclusion: These results demonstrate that the GG genotype of the CYP2C9 rs2860905 variant appears to enhance the risk of ischemic stroke among adults in Taiwan. It could be essential to factor this genotype-specific contributor to ischemic stroke into clinical and experimental investigations of the disease in Taiwan. [ABSTRACT FROM AUTHOR]

Purpose: We investigated the interactive effect of rs10506151 polymorphism of the Leucine-rich repeat kinase 2 (LRRK2) gene and type 2 diabetes (T2D) on neurodegenerative disease (ND) risk. Materials and Methods: Data of 17, 927 participants in the Taiwan Biobank (TWB) assessed between 2008 and 2015 were linked to healthcare records in the National Health Insurance Research Database (NHIRD). The odd ratios (ORs) and 95% confidence intervals (CIs) for NDs were determined using logistic regression analysis. Results: There were 145 cases with NDs, and 28.28% (n = 41) of these individuals had T2D. Associations of neurodegenerative disorders with LRRK2 rs10506151 variant and T2D were not significant. The corresponding ORs (95% CI) for NDs were 1.06 (0.75– 1.49) in CA/AA compared to CC individuals and 0.93 (0.63– 1.39) in those with T2D compared to non-diabetic participants. However, we found evidence of a significant interaction between rs10506151 and T2D (p = 0.0073). After stratification by genotypes of rs10506151, the OR for NDs was 0.37 (CI, 0.17– 0.82) in CA/AA individuals with T2D and 1.41 (0.88– 2.27) in their CC counterparts. When CA/AA individuals with T2D represented the reference group, the OR (95% CI) was 1.74 (0.81– 3.73) in CC individuals with no T2D, 2.47 (CI, 1.14– 5.38) in CA/AA individuals with no T2D, and 2.34 (CI, 1.07– 5.11) in CC individuals with T2D. Conclusion: Our data indicated that the risk of NDs was significantly lower among diabetic individuals with combined CA/AA of the LRRK2 rs10506151 variant in Taiwan. [ABSTRACT FROM AUTHOR]

Purpose: Peripheral vascular disease (PVD) is a life-threatening condition affecting the lower extremities. Common risk factors include type 2 diabetes (T2D), hypertension, dyslipidemia, smoking, and older age. There is a little-documented research on the genetic basis of the disease in Taiwan. We examined the impact of T2D and the blood pressure-associated rs17367504 variant of the Methylenetetrahydrofolate reductase (MTHFR) gene on PVD risk. Materials and Methods: In this population-based association study, we linked data from 8992 participants in Taiwan Biobank (TWB) to their medical records in the National Health Insurance Research Database (NHIRD). Participants were 30 to 70 years old at recruitment and included those assessed between 2008 and 2015. We tested for association of PVD with rs17367504 and T2D using multiple logistic regression models. The rs17367504 variant was assessed using the Axiom-Taiwan Biobank Array Plate (TWB chip: Affymetrix, Inc., Santa Clara, CA, USA). Results: Among cases with T2D (n = 1294), 158 (12.21%) were identified with PVD. T2D was associated with PVD (odds ratio [OR], 1.52; 95% confidence interval [CI], 1.21– 1.91; p< 0.001) whereas rs17367504 variant was not (OR, 0.96; CI, 0.76– 1.21; p = 0.728 in AG/GG compared to AA homozygotes). However, T2D and rs17367504 had an interactive effect on PVD (p for interaction = 0.0076). Results from our stratified analyses displayed OR of 1.75 (CI, 1.35– 2.26; p< 0.001) in AA individuals with DM and 0.94 (CI, 0.56– 1.58; p = 0.811) in AG+GG individuals with T2D. Using the AA genotype and no T2D as the reference group, the respective OR of PVD was 1.77 (CI, 1.38– 2.28; p< 0.001) in AA individuals with T2D; 1.18 (CI, 0.91– 1.55; p = 0.215) in AG+GG individuals with no T2D, and 1.03 (CI, 0.66– 1.60; p = 0.892) in AG+GG individuals with T2D. Conclusion: We found that type 2 diabetes was associated with increased risk of peripheral vascular disease, particularly in AA genotype carriers of the rs17367504 variant in Taiwan. [ABSTRACT FROM AUTHOR]

aimed to investigate the association of age and sex with metabolic syndrome (MS) in Taiwanese adults. Methods: We extracted information of 4307 men and 4783 women aged 30– 70 from the Taiwan Biobank. Results: The interaction between age and sex on MS was significant (p-value = 0.0001). After stratification by sex, men and women aged 50– 70 years (reference: 30≤age< 50 years) had a higher risk of MS. The odds ratio (OR), 95% confidence interval (CI) was 2.316, 1.936– 2.772 in men and 3.101, 2.561– 3.754 in women. After stratification by age, men aged 50– 70 years had a lower risk of MS compared to women (OR, 95% CI = 0.713, 0.598– 0.851). Conclusion: The interaction between age and sex on MS was significant. Sex-wise, both men and women aged 50– 70 years had a higher likelihood of MS. Age-wise, men aged 50– 70 years had a lower risk of MS compared to women. [ABSTRACT FROM AUTHOR]

Purpose: Genetic and environmental factors are related to type 2 diabetes (T2D). Genetic modifiers of T2D have not been widely determined among smoking individuals. In this population-based study, we investigated the interactive association between rs4402960 polymorphism of the insulin-like growth factor 2 mRNA-binding protein 2 (IGF2BP2) gene and smoking with T2D among Taiwanese adults. Materials and Methods: We obtained genetic data collected between 2008 and 2018 for 22,039 participants (aged 30– 70 years) from the Taiwan Biobank (TWB) database. These data were analyzed using the t-test, Chi-square (χ2) test, and multiple logistic regression. Results: The mean ages for participants with and without diabetes were 58.11± 8.75 and 48.58± 11, respectively. Compared with the rs4402960 GG genotype, the odds ratio (OR) for T2D was 1.261 among GT and 1.545 among TT genotype individuals (p< 0.05). Current smokers compared to nonsmokers were associated with a higher risk of T2D (OR=1.266, p=0.0404). There was a significant interaction between the IGF2BP2 rs4402960 variant and smoking on T2D (p = 0.0497). After stratification by rs4402960 genotypes and smoking status, the OR was substantial only in current smokers with GG genotype (OR, 1.663, p = 0.0008). Conclusion: This population-based study indicated that the risk for T2D was stronger among current smoking rs4402960 GG individuals recruited between 2008 and 2019 in Taiwan. [ABSTRACT FROM AUTHOR]