RESUMO
Background: This study aimed to develop an autoimmune thyroid disease (AITD) risk prediction model for patients with vitiligo based on readily available characteristics. Methods: A retrospective analysis was conducted on the clinical characteristics, demographics, skin lesions, and laboratory test results of patients with vitiligo. To develop a model to predict the risk of AITD, the Least Absolute Shrinkage and Selection Operator (LASSO) method was used to optimize feature selection, and logistic regression analysis was used to select further features. The C-index, Hosmer-Lemeshow test, and decision curve analysis were used to evaluate the calibration, discrimination ability and clinical utility of the model. Internally, the model was verified using bootstrapping; externally, two independent cohorts were used to confirm model accuracy. Results: Sex, vitiligo type, family history of AITD, family history of other autoimmune disease, thyroid nodules or tumors, negative emotions, skin involvement exceeding 5% of body surface area, and positive immune serology (IgA, IgG, IgM, C3, and C4) were predictors of AITD in the prediction nomogram. The model showed good calibration and discrimination (C-index: 0.746; 95% confidence interval: 0.701-0.792). The accuracy of this predictive model was 74.6%.In both internal validation (a C-index of 1000 times) and external validation, the C-index outperformed (0.732, 0.869, and 0.777). The decision curve showed that the AITD nomogram had a good guiding role in clinical practice. Conclusion: The novel AITD nomogram effectively evaluated the risk of AITD in patients with vitiligo.
Assuntos
Doença de Hashimoto , Vitiligo , Humanos , Vitiligo/diagnóstico , Vitiligo/epidemiologia , Nomogramas , Estudos Retrospectivos , Fatores de RiscoRESUMO
The aim of this meta-analysis was to evaluate the association between cyclin G-associated kinase (GAK) rs1564282 C/T polymorphism and Parkinson's disease (PD) susceptibility. GAK modifies α-synuclein expression levels and affects susceptibility to PD. Genetic variation in GAK may influence the risk of occurrence and progression of PD. Many studies have evaluated the association between GAK rs1564282 C/T polymorphism and the risk of PD. However, published data are still controversial. Nine case-control studies with a total of 8159 PD patients and 12,747 controls were included in the meta-analysis. The summary odds ratio with 95% confidence interval was calculated to estimate this association. Both the minor allele frequencies and the genotype distributions of rs1564282 within GAK were different between the two groups when all studies were pooled. Subgroup analysis by ethnicity showed GAK rs1564282 C/T polymorphism was significantly associated with increased risk in both Asian and Caucasian populations. This meta-analysis suggests that GAK rs1564282 C/T polymorphism is associated with increased susceptibility to PD.
Assuntos
Peptídeos e Proteínas de Sinalização Intracelular/genética , Doença de Parkinson/epidemiologia , Doença de Parkinson/genética , Proteínas Serina-Treonina Quinases/genética , Estudos de Casos e Controles , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Humanos , Polimorfismo Genético/genética , RiscoRESUMO
Fibroblast growth factor 20 (FGF20) is a neurotrophic factor which enhances the survival of rat midbrain dopamine neurons. Genetic variation in FGF20 may influence the risk of occurrence and development in Parkinson's diseases (PD). Many studies have evaluated the association between FGF20 rs1721100 C/G polymorphism and the risk of sporadic PD; however, published data are still controversial. The aim of the present meta-analysis was to evaluate the association of FGF20 rs1721100 C/G polymorphism with susceptibility of PD. The summary odds ratio (OR) with its 95 % confidence interval (CI) was calculated to estimate the association. Five case-control studies with a total of 3,463 sporadic PD cases and 4,606 controls were finally included into this meta-analysis. Neither the basic allele frequencies nor the genotypic distributions of rs1721100 C/G within FGF20 were different between two groups when all studies were pooled into the meta-analysis. Subgroup analysis by ethnicity showed FGF20 rs1721100 C/G polymorphism was significantly associated with increased risk in the heterozygote comparison model (CG versus GG: OR = 0.83, 95 % CI, 0.72-0.95, P = 0.009) in Asians but not in Caucasians. Overall, this meta-analysis suggests that FGF20 rs1721100 C/G polymorphism is associated with sporadic PD in Asians.
Assuntos
Fatores de Crescimento de Fibroblastos/genética , Predisposição Genética para Doença , Doença de Parkinson/genética , Polimorfismo de Nucleotídeo Único , Povo Asiático/genética , Humanos , Viés de Publicação , População Branca/genéticaRESUMO
In shotgun proteomics, protein identification by tandem mass spectrometry relies on bioinformatics tools. Despite recent improvements in identification algorithms, a significant number of high quality spectra remain unidentified for various reasons. Here we present ScanRanker, an open-source tool that evaluates the quality of tandem mass spectra via sequence tagging with reliable performance in data from different instruments. The superior performance of ScanRanker enables it not only to find unassigned high quality spectra that evade identification through database search but also to select spectra for de novo sequencing and cross-linking analysis. In addition, we demonstrate that the distribution of ScanRanker scores predicts the richness of identifiable spectra among multiple LC-MS/MS runs in an experiment, and ScanRanker scores assist the process of peptide assignment validation to increase confident spectrum identifications. The source code and executable versions of ScanRanker are available from http://fenchurch.mc.vanderbilt.edu.