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PURPOSE: The prevalence of diabetes is increasing worldwide. The associations between the lipid profile and glycated hemoglobin (HbA1c), fasting glucose, and diabetes remain unclear, so we aimed to perform a cohort study and a two-sample Mendelian randomization (MR) study to investigate the causality between blood lipid profile and HbA1c, fasting glucose, and diabetes. METHODS: A total of 25,171 participants from the Taiwan Biobank were enrolled. We applied a cohort study and an MR study to assess the association between blood lipid profile and HbA1c, fasting glucose, and diabetes. The summary statistics were obtained from the Asian Genetic Epidemiology Network (AGEN), and the estimates between the instrumental variables (IVs) and outcomes were calculated using the inverse-variance weighted (IVW) method. A series of sensitivity analyses were performed. RESULTS: In the cohort study, high-density lipoprotein cholesterol (HDL-C) was negatively associated with HbA1c, fasting glucose, and diabetes, while the causal associations between HDL-C and HbA1c (ßIVW = - 0.098, p = 0.003) and diabetes (ßIVW = - 0.594, p < 0.001) were also observed. Furthermore, there was no pleiotropy effect in this study using the MR-Egger intercept test and MR-PRESSO global test. CONCLUSIONS: Our results support the hypothesis that a genetically determined increase in HDL-C is causally related to a reduction in HbA1c and a lower risk of diabetes.
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Diabetes Mellitus , Análisis de la Aleatorización Mendeliana , Humanos , Hemoglobina Glucada , Estudios de Cohortes , Ayuno , HDL-Colesterol , Glucosa , Lípidos , Estudio de Asociación del Genoma Completo , Polimorfismo de Nucleótido SimpleAsunto(s)
Carcinoma in Situ , Carcinoma de Células Escamosas , Neoplasias de la Vulva , Humanos , FemeninoRESUMEN
BACKGROUND: Postoperative pancreatic fistulae (POPF) are a major contributing factor to pancreatoduodenectomy-associated morbidity. Established risk calculators mostly rely on subjective or intraoperative assessments. We hypothesized that various objective preoperatively determined computed tomography (CT) measurements could predict POPF as well as validated models and allow for more informed operative consent in high-risk patients. METHODS: Patients undergoing elective pancreatoduodenectomies between January 2013 and April 2018 were identified in a prospective database. Comparative statistical analyses and multivariable logistic regression models were generated to predict POPF development. Model performance was tested with receiver operating characteristics (ROC) curves. Pancreatic neck attenuation (Hounsfield units) was measured in triplicate by pancreatic protocol CT (venous phase, coronal plane) anterior to the portal vein. A pancreatic density index (PDI) was created to adjust for differences in contrast timing by dividing the mean of these measurements by the portal vein attenuation. Total areas of subcutaneous fat and skeletal muscle were calculated at the L3 vertebral level on axial CT. Pancreatic duct (PD) diameter was determined by CT. RESULTS: In the study period 220 patients had elective pancreatoduodenectomies with 35 (16%) developing a POPF of any grade. Multivariable regression analysis revealed that demographics (age, sex, and race) were not associated with POPF, yet patients resected for pancreatic adenocarcinoma or chronic pancreatitis were less likely to develop a POPF (10 vs. 24%; p = 0.004). ROC curves were created using various combinations of gland texture, body mass index, skeletal muscle index, sarcopenia, PDI, PD diameter, and subcutaneous fat area indexed for height (SFI). A model replacing gland texture with SFI and PDI (AUC 0.844) had similar predictive performance as the established model (p = 0.169). CONCLUSION: A combination of preoperative objective CT measurements can adequately predict POPF and is comparable to established models relying on subjective intraoperative variables. Validation in a larger dataset would allow for better preoperative stratification of high-risk patients and improve informed consent among this patient population.
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Procedimientos Quirúrgicos Electivos/efectos adversos , Fístula Pancreática/epidemiología , Pancreaticoduodenectomía/efectos adversos , Complicaciones Posoperatorias/epidemiología , Tomografía Computarizada por Rayos X/estadística & datos numéricos , Adenocarcinoma/cirugía , Adolescente , Adulto , Anciano , Antropometría/métodos , Procedimientos Quirúrgicos Electivos/métodos , Estudios de Factibilidad , Femenino , Humanos , Consentimiento Informado , Modelos Logísticos , Masculino , Persona de Mediana Edad , Músculo Esquelético/diagnóstico por imagen , Conductos Pancreáticos/diagnóstico por imagen , Fístula Pancreática/etiología , Neoplasias Pancreáticas/cirugía , Pancreatitis Crónica/cirugía , Complicaciones Posoperatorias/etiología , Valor Predictivo de las Pruebas , Cuidados Preoperatorios/métodos , Cuidados Preoperatorios/estadística & datos numéricos , Estudios Prospectivos , Curva ROC , Estudios Retrospectivos , Medición de Riesgo/métodos , Medición de Riesgo/estadística & datos numéricos , Factores de Riesgo , Sarcopenia/diagnóstico , Sarcopenia/epidemiología , Grasa Subcutánea/diagnóstico por imagen , Adulto JovenRESUMEN
AIM: This study evaluated two methods, namely high performance liquid chromatography with fluorescence detection (HPLC-FLD) and Vibrio harveyi BB170 bioassay, for autoinducer-2 (AI-2) quantification in marine samples. Using both methods, the study also investigated the stability of AI-2 in varying pH, temperature and media, as well as quantified the amount of AI-2 signals in marine samples. METHODS AND RESULTS: HPLC-FLD method showed a higher level of reproducibility and precision compared to V. harveyi BB170 bioassay. Alkaline pH (>8) and high temperature (>37°C) increased the instability of AI-2. The AI-2 concentrations in seawater were low, c. 3·2-27·6 pmol l-1 , whereas 8-week-old marine biofilm grew on an 18·8 cm2 substratum accumulated c. 0·207 nmol of AI-2. CONCLUSION: Both methods have pros and cons for AI-2 quantification in marine samples. Regardless, both methods reported a ubiquitous presence of AI-2 in both planktonic and biomass fractions of seawater, as well as in marine biofilm. SIGNIFICANCE AND IMPACT OF THE STUDY: In this study, AI-2 signals were for the first time enumerated in marine samples to reveal the ubiquitous presence of AI-2 in this environment. The findings suggest a possible role of AI-2 in biofilm formation in marine environment, and the contribution of AI-2 in biofilm-associated problems such as biofouling and biocorrosion.
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Bioensayo/métodos , Homoserina/análogos & derivados , Lactonas/análisis , Agua de Mar/análisis , Biopelículas , Cromatografía Líquida de Alta Presión , Microbiología Ambiental , Homoserina/análisis , Plancton , Reproducibilidad de los Resultados , Agua de Mar/microbiología , Espectrometría de Fluorescencia , Vibrio/metabolismoRESUMEN
Microarray technology is a powerful tool for human genetic research and other biomedical applications. Numerous improvements to the standard K-means algorithm have been carried out to complete the image segmentation step. However, most of the previous studies classify the image into two clusters. In this paper, we propose a novel K-means algorithm, which first classifies the image into three clusters, and then one of the three clusters is divided as the background region and the other two clusters, as the foreground region. The proposed method was evaluated on six different data sets. The analyses of accuracy, efficiency, expression values, special gene spots, and noise images demonstrate the effectiveness of our method in improving the segmentation quality.
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Algoritmos , Procesamiento de Imagen Asistido por Computador , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Análisis por Conglomerados , Bases de Datos Genéticas , Regulación de la Expresión Génica , HumanosRESUMEN
BACKGROUND: Gout is a common form of inflammatory arthritis that is triggered by the crystallization of monosodium urate (MSU). We investigated the potential proteins that relate to the pathogenesis or the spontaneous resolution of acute gouty arthritis. METHOD: We screened for differentially expressed proteins in the plasma of patients with acute gouty arthritis using two-dimensional gel electrophoresis (2-DE) and mass spectrometry (MS) identification. We confirmed these findings in a population study of 209 subjects, and further determined the protein profile of the synovial fluid (SF) from 24 gouty patients during acute attack by liquid chromatography coupled with tandem MS (LC/MS/MS). RESULTS: The highly expressed apolipoprotein A-I (apoA-I) was identified in the plasma of acute gouty patients compared with healthy controls. Moreover, we detected high levels of SF apoA-I in 83.3% of acute gouty patients during attack. From the population study, apoA-I was increasingly associated with normouricaemia, hyperuricaemia, and acute gouty arthritis (ptrend < 0.001), and plasma uric acid (UA) and apoA-I were positively correlated (p = 0.0156). We used a human liver cell model and found that UA enhanced the hepatic apoA-I mRNA expression level (ptrend < 0.01) and apoA-I secretion level (ptrend = 0.002) in a dose-dependent manner. An elevated MSU concentration caused the endogenous apoA-I to deplete gradually. CONCLUSIONS: Based on the role of apoA-I in anti-inflammation, our observational data in acute gout support the hypothesis that apoA-I expression can be induced under the condition of a high concentration of UA and its elevated level may be implicated in the spontaneous resolution of acute gouty arthritis.
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Apolipoproteína A-I/metabolismo , Artritis Gotosa/metabolismo , Ácido Úrico/metabolismo , Enfermedad Aguda , Adulto , Anciano , Apolipoproteína A-I/análisis , Apolipoproteína A-I/genética , Cristalización , Electroforesis en Gel Bidimensional , Humanos , Masculino , Persona de Mediana Edad , Líquido Sinovial/química , Ácido Úrico/sangreAsunto(s)
Bebidas/efectos adversos , Presión Sanguínea , Índice de Masa Corporal , Sacarosa en la Dieta/efectos adversos , Fructosa/efectos adversos , Síndrome Metabólico/sangre , Edulcorantes/efectos adversos , Ácido Úrico/sangre , Adolescente , Antropometría , Niño , Conducta de Ingestión de Líquido , Ingestión de Energía , Femenino , Humanos , Masculino , Síndrome Metabólico/epidemiología , Síndrome Metabólico/prevención & control , Encuestas Nutricionales , Factores de Riesgo , Encuestas y Cuestionarios , Taiwán , Zea maysRESUMEN
High-sensitivity C-reactive protein (hs-CRP) concentrations and obesity are proposed to have a significant relationship with impairment of lung function, but little has been reported to date on the association between CRP gene and lung function. We studied the association of three tagSNPs (tag single nucleotide polymorphisms) of CRP gene and their interactions with central obesity on lung function. A total of 384 asthmatic adults and 384 controls who were 1:1 matched by sex and age were recruited for this study. Three tagSNPs polymorphisms for CRP rs1417938, rs1800947 and rs1205 were selected from HapMap data and genotyping by using TaqMan allelic discrimination assay. A questionnaire interview, body composition and pulmonary function tests were performed. CRP single nucleotide polymorphisms (SNPs) did not increase the risk of asthma, but CRP rs1205 CC genotype significantly decreased the predictive value of forced vital capacity (FVC) in the asthma group (adjusted mean change = -7.54%, 95% CI = -13.82 to -1.25%). Waist-to-hip ratio, not body mass index, also decreased the predictive value of FVC in asthmatics. The subjects with central obesity who carried CRP SNPs have a significant reduction effect in lung function. The current results suggest that central obesity may play a major role in lung function, and these effects were modified significantly by the polymorphisms for CRP gene.
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Asma/epidemiología , Asma/genética , Proteína C-Reactiva/metabolismo , Obesidad Abdominal/epidemiología , Obesidad Abdominal/genética , Adulto , Anciano , Asma/diagnóstico , Asma/fisiopatología , Proteína C-Reactiva/genética , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Obesidad Abdominal/diagnóstico , Obesidad Abdominal/fisiopatología , Polimorfismo Genético , Pruebas de Función Respiratoria , Taiwán , Relación Cintura-CaderaRESUMEN
BACKGROUND: Several studies have suggested that the association between obesity and asthma may be stronger in females than in males, but the reason is still unclear. OBJECTIVE: The aim of this study was to investigate whether differences in high-sensitivity C-reactive protein (hs-CRP) levels explain why obesity is associated with asthma in females but not in males. METHODS: This study prospectively enrolled 754 subjects ≥ 18 years old from hospital-based asthma patients and population-based controls. We measured adiposity factors [body mass index (BMI), waist circumference and waist-hip ratio], hs-CRP and total IgE levels. RESULTS: After adjusting for potential confounding factors, we found a significant association between BMI and asthma in females with a significant interaction of gender and BMI on asthma (χ(2) =10.2, P=0.004). If hs-CRP was added to the logistic model, the interaction was attenuated but still significant (χ(2) =7.02, P=0.03). After adjusting for BMI, we did not find that circulating hs-CRP concentrations were significantly associated with asthma in males and females. CONCLUSION: We found that BMI was associated with asthma in females, but our results do not support the suggestion that hs-CRP levels contribute significantly to the link between obesity and asthma with respect to gender disparity.
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Asma/sangre , Proteína C-Reactiva/análisis , Obesidad/sangre , Factores de Edad , Asma/complicaciones , Índice de Masa Corporal , Femenino , Humanos , Masculino , Persona de Mediana Edad , Obesidad/complicaciones , Distribución por Sexo , TaiwánRESUMEN
AIM: The development of Type 2 diabetes mellitus (T2DM) has been recognized to be associated with a combination of pancreatic beta-cell dysfunction and insulin resistance. Nuclear factor-kappaB (NF-kappaB) has been recognized as one central mediator in the reaction of inflammation and proapoptotic event in beta-cells. A functional polymorphism at the codon 55 (methionine to valine; A163G) of the small ubiquitin- like modifier-4 (SUMO4) gene may result in higher NF-kappaB activity. This study investigates whether this SUMO4 Met55Val polymorphism also contributes to the development of T2DM. MATERIALS AND METHODS: The study was performed using genomic DNA samples from 574 Type 2 diabetic patients and 323 healthy controls. The SUMO4 Met55Val polymorphism was genotyped using allele-specific real-time PCR. RESULTS: The frequency of the G allele (encoding Val55) was significantly higher in Type 2 diabetic patients and Type 2 diabetic patients with the GG genotype had higher hemoglobin A1c level. Multivariate logistic regression analysis revealed the genotype of GG and GA was an independent risk factor contributing to the development of T2DM. CONCLUSION: This study suggests that in Taiwan the SUMO4 Met 55Val polymorphism is associated with susceptibility to T2DM and Type 2 diabetic patients with GG genotype have worse glycemic control.
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Glucemia/metabolismo , Diabetes Mellitus Tipo 2/genética , Polimorfismo de Nucleótido Simple , Proteínas Modificadoras Pequeñas Relacionadas con Ubiquitina/genética , Adulto , Anciano , Diabetes Mellitus Tipo 2/sangre , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Masculino , Persona de Mediana Edad , FN-kappa B/genética , TaiwánRESUMEN
BACKGROUND: Asthma is a complex disorder, which is known to be affected by interactions between genetic and environmental factors. The human Eotaxin 1 and CCR3 attract eosinophils and Th2-lymphocytes to migrate to the inflammatory foci that could represent a key mechanism in allergy and asthma. OBJECTIVE: We hypothesized that Eotaxin1 gene Ala23Thr and A-384 G, and CCR3 gene T51C polymorphisms are associated with plasma Eotaxin levels and predispose individuals to asthma pathogenesis. METHODS: One hundred seventy-eight hospital-based asthmatic children and 277 community-based controls aged from 5 to 12 years were recruited in southern Taiwan. Whole blood samples and questionnaires were collected. In this study, we addressed genetic effects of Eotaxin 1 and CCR3 genes on asthma, plasma IgE and Eotaxin 1 levels. RESULTS: In comparison with subjects with Ala23Ala genotype, Ala23Thr polymorphism of the Eotaxin 1 gene showed a significant protective effect on asthma (AOR = 0.58, 95% CI = 0.37-0.92). We demonstrated that the mean Eotaxin 1 concentration was significantly higher in subjects with Ala23Ala than in subjects with Thr23Thr (P = 0.005) or Ala23Thr (P = 0.07), which showed a gene-dose dependent relationship. But, we observed that the A-384G polymorphism of Eotaxin 1 gene and T51C polymorphism of CCR3 gene are not associated with asthma. CONCLUSION: This study finding provide a strong evidence that Eotaxin 1 Thr23Thr homozygote has a protective effect on asthma and significantly decreases plasma Eotaxin 1 concentrations in asthmatics in Taiwan.
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Asma/genética , Asma/inmunología , Quimiocina CCL11/sangre , Quimiocina CCL11/genética , Inmunoglobulina E/sangre , Polimorfismo Genético/genética , Receptores CCR3/genética , Niño , Preescolar , ADN/sangre , ADN/aislamiento & purificación , Eosinófilos/inmunología , Eosinófilos/metabolismo , Femenino , Frecuencia de los Genes/inmunología , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , Polimorfismo Genético/inmunología , Polimorfismo de Longitud del Fragmento de Restricción/genética , Polimorfismo de Longitud del Fragmento de Restricción/inmunología , Polimorfismo de Nucleótido Simple/genética , Polimorfismo de Nucleótido Simple/inmunología , Receptores CCR3/metabolismo , Valores de Referencia , Índice de Severidad de la Enfermedad , Linfocitos T/inmunología , Linfocitos T/metabolismo , TaiwánRESUMEN
OBJECTIVE: Human uncoupling proteins 2 and 3 (UCP2 and UCP3) are two mitochondrial proteins that are involved in the control of metabolism of fatty acid and possibly protect against oxidative damage. The aim of this study was to analyze genetic associations of four polymorphisms of the UCP2 and UCP3 genes with insulin, leptin concentration and obesity in Taiwan aborigines. RESEARCH METHODS: Four polymorphisms were compared in 324 obese (body mass index (BMI) > or =30 kg/m(2)) and overweight (30>BMI > or =25 kg/m(2)) subjects, and 114 normal weight subjects (BMI <25 kg/m(2)) in an aboriginal community of southern Taiwan. Anthropometric characteristics and fasting levels of insulin, leptin, triglycerides and cholesterol were measured. RESULTS: Before and after adjusting for age distribution, only the Val55 allele in exon 4 of the UCP2 gene increased the risk of overweight and obesity (adjusted odds ratio (OR)=2.02, P=0.004) in comparison with Ala55. UCP2 V55V is also associated with higher fasting insulin levels than A55V (P=0.01) and A55A (P=0.04) in the obese/overweight group. Using the COCAPHASE program of the UNPHASED software, haplotype analysis of three single nucleotide polymorphisms (A55V-G866A-C-55T) revealed that A-G-C (73% in obese subjects and 77% in controls) was the most common haplotype and that the haplotype V-A-T (13% in obese subjects and 5% in controls) was significantly increased in obese and overweight subjects (BMI > or =25 kg/m(2)) (OR=2.62, P<0.001). DISCUSSIONS: UCP2 A55V variant might predispose to obesity and Val55 allele to confer population-attributable risk for 9.5% of obese disorders and increase insulin concentrations. The V-A-T haplotype within UCP2-UCP3 gene cluster is also significantly associated with obesity in Paiwan aborigines.
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Canales Iónicos/genética , Proteínas Mitocondriales/genética , Nativos de Hawái y Otras Islas del Pacífico/genética , Obesidad/genética , Anciano , Antropometría , Colesterol/sangre , Ayuno/sangre , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Haplotipos , Humanos , Insulina/sangre , Leptina/sangre , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Obesidad/sangre , Obesidad/etnología , Fenotipo , Polimorfismo de Nucleótido Simple , Taiwán/epidemiología , Triglicéridos/sangre , Proteína Desacopladora 2 , Proteína Desacopladora 3RESUMEN
BACKGROUND: Asthma is a multi-factorial disorder caused by complex interactions between genetic and environmental factors. IFN-gamma and IFN regulatory factor 1 (IRF-1) affect Th1/Th2 cytokine balance, and influence the differentiation of Th2 cells, which influence the development of asthma. OBJECTIVE: This study investigated CA repeats polymorphism of the IFN-gamma gene and GT repeats polymorphism of the IRF-1 gene, which may predispose individuals to asthma pathogenesis. METHODS: In the present study, we used the transmission/disequilibrium test (TDT) to investigate the relationship between asthma and the IFN-gamma and IRF-1 polymorphisms by studying 348 subjects composed of 232 parents and 116 asthmatic children. RESULTS: For global TDT test, IFN-gamma CA repeats and IRF-1 GT repeat polymorphisms showed a significant association with asthma in children (P=0.009 and 0.017, respectively). We demonstrated that 13 CA repeats (138 bp) of IFN-gamma gene and 11 GT repeats (306 bp) of IRF-1 gene are significantly preferentially transmitted to asthmatic children (T/NT=89/61, chi2=8.43, P<0.005 and T/NT=75/49, chi2=8.18, P<0.005, respectively). The offspring will have an increased risk of asthma when their parents transmit IFN-gamma 13 CA repeats (OR=1.83, P=0.009) and IRF1 11 GT repeats (OR=1.88, P=0.007) to them. But we observed that the IFN-gamma and IRF-1 polymorphisms are not associated with IgE concentrations. CONCLUSION: These findings provide strong evidence of which IFN-gamma CA repeat and IRF-1 GT repeat polymorphisms influence the risk of asthma for children in Taiwan.
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Asma/genética , Factor 1 Regulador del Interferón/genética , Interferón gamma/genética , Polimorfismo Genético/genética , Adulto , Asma/sangre , Niño , Salud de la Familia , Femenino , Frecuencia de los Genes/genética , Predisposición Genética a la Enfermedad/genética , Humanos , Inmunoglobulina E/sangre , Desequilibrio de Ligamiento/genética , Masculino , Fenotipo , TaiwánRESUMEN
Asthma occurs in genetically susceptible individuals in the presence of environmental factors. The interleukin-9 (IL-9) gene, one of the cytokine genes located on chromosome 5q31, plays an important role in the development of asthmatic syndrome by enhancing both T-cell and mast-cell function. This study investigated GT repeat polymorphism of the IL-9 gene and the gene-environment interactions, which may predispose individuals to asthma and atopy pathogenesis. In this study, we used the transmission/disequilibrium test (TDT) to investigate the relationship between asthma and the IL-9 gene by studying 123 parent-offspring trios and 91 siblings. For allele-specific TDT chi-squared test, allele 122 of the IL-9 gene showed significant association with asthmatics with specific IgE against house dust (HD) (P = 0.038). The additions of covariates to TDT to conduct the synergistic effects between the IL-9 gene and environmental factors into account were estimated by conditional logistic regression models. The odds ratio for transmission of allele 122 of the IL-9 gene was 1.23 (P = 0.28) for all asthmatic probands. There was slight increased interaction effect on asthma between transmission of allele 122 of IL-9 gene to offspring and who were exposed to the fur of pets (OR = 3.33, P = 0.047). We also detected elevated odds of transmission of allele 122 to atopic asthmatic probands (OR = 2.08, P = 0.03) and offspring with very high levels of serum IgE (> or = 800 IU mL(-1)). In conclusion, this study has found that the IL-9 gene was slightly associated with asthmatics who have positive specific IgE against Der p (or Der f) and house dust, when information on environmental factors was incorporated as effect modifiers.
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Asma/genética , Asma/inmunología , Exposición a Riesgos Ambientales , Interleucina-9/genética , Adolescente , Adulto , Niño , Femenino , Humanos , Interleucina-9/fisiología , Masculino , TaiwánRESUMEN
BACKGROUND: The aim of the study was to test whether the COMT, CYP1A1 and CYP17 genes influence the risk of developing adenomyosis and endometriosis. METHODS: We conducted two case-control studies, where the cases (n = 198) had either of the two diseases, and controls (n = 312) were disease-free women. For the COMT gene, we selected the G/A nonsynonymous single-nucleotide polymorphism (SNP) that leads to valine-to-methionine (Val/Met) substitution. For the CYP1A1 gene, we used a functional T/C SNP in the 3'-noncoding region, and we genotyped a T/C functional SNP in the 5' region of the CYP17 gene for the present study. Hardy-Weinberg equilibrium was checked in both cases and controls. Logistic regression models were used to evaluate the genetic effect, with adjustment for other covariates. RESULTS: We found that the homozygous COMT genotype that encodes low enzyme activity had an increased risk for adenomyosis with an age-adjusted odds ratio of 3.2 (95% confidence interval 1.3-7.8; P = 0.006). The COMT gene, however, was not associated with endometriosis. Neither the CYP1A1 nor CYP17 genes had any significant association with either of the two diseases. CONCLUSION: The COMT gene significantly influences the risk of adenomyosis but not endometriosis. The present study does not provide evidence to support any of the three genes exerting pleiotropic effects on both diseases.
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Catecol O-Metiltransferasa/genética , Citocromo P-450 CYP1A1/genética , Endometriosis/genética , Polimorfismo Genético , Esteroide 17-alfa-Hidroxilasa/genética , Adulto , Factores de Edad , Índice de Masa Corporal , Endometriosis/patología , Femenino , Genotipo , Humanos , Persona de Mediana Edad , TaiwánRESUMEN
BACKGROUND: The mortality rates of cerebral and cardiovascular diseases are higher for aborigines than non-aborigines in Taiwan. Hypertriglyceridaemia and hypercholestolaemia are risk factors for cardiovascular diseases. OBJECTIVES: To investigate the prevalence of dyslipidaemia and its associated risk factors in aborigine (Atayal, Paiwan and Bunun tribes) and non-aborigine (Fukein and Hakka Chinese) children and adolescents in Taiwan. STUDY DESIGN: This was a cross-sectional study. METHODS: In total, 718 males and 721 females, below 20 years of age, were recruited. Our study defined dyslipidaemia as serum triglyceride and cholesterol levels greater than 200 and 240 mg/dl, respectively. RESULTS: The serum triglyceride level and the prevalence of hypertriglyceridaemia were similar in both aborigines and non-aborigines and both sexes, but the Bunun and Paiwan tribes had the highest prevalence of hypertriglyceridaemia in males (11.8-29.4%) and females (10.9-22.8%) compared with other aboriginal tribes (5.1-10.8% for males and 7.8-9.2% for females). Serum cholesterol concentrations and the prevalence of hypercholesterolaemia were lower in the aborigines than non-aborigines for both sexes (P<0.05), with the Atayal tribe having the lowest prevalence in males (1.1%) and females (2.1%) compared with other aboriginal tribes (2.4-4.5% for males and 5.7-8.0% for females). Using multivariate-adjusted logistic regression modelling, hypertriglyceridaemia was significantly associated with the Bunun tribe (odds ratio (OR)=3.2, 95% confidence intervals (CI) 1.6-6.1), hyperuricaemia (OR=1.8, 95% CI 1.2-2.6), hypercholesterolaemia (OR=3.3, 95% CI 1.7-6.4) and alcohol use (OR=2.8, 95% CI 1.2-6.6). Hypercholesterolaemia, after controlling for age and sex, was significantly associated with the Atayal tribe (OR=0.2, 95% CI 0.1-0.5), hypertriglyceridaemia (OR=3.5, 95% CI 1.8-6.7) and hyperuricaemia (OR=3.2, 95% CI=1.7-6.0). CONCLUSIONS: For the young people of Taiwan, hypertriglyceridaemia is associated with hyperuricaemia, hypercholesterolaemia and alcohol use, and hypercholesterolaemia is associated with hypertriglyceridaemia and hyperuricaemia. Compared with non-aborigines, the young aborigines of some tribes have a higher prevalence of hypertriglyceridaemia and a lower serum cholesterol level.
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Hipercolesterolemia/etnología , Hipertrigliceridemia/etnología , Adolescente , Adulto , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Modelos Logísticos , Masculino , Análisis Multivariante , Prevalencia , Factores de Riesgo , Taiwán/epidemiologíaRESUMEN
BACKGROUND: Asthma is now known to be an inflammatory response caused by the release of inflammatory mediators and cytokines. Tumour necrosis factor (TNF) is a potent cytokine in the inflammation response of the airway, and the polymorphisms of TNF genes have been associated with asthma. OBJECTIVE: This study investigated two variants, TNF-alpha-308*2 and lymphotoxin (LT)-alpha-NcoI*1, which may predispose individuals to asthma and atopy pathogenesis. METHODS: PCR-based assays were performed to determine LT-alpha-NcoI*1 and TNF-alpha-308*2 genotypes among our subjects, with 128 atopic asthmatics and 51 non-atopic asthmatics, 55 atopic controls, and 78 non-atopic controls in this genetic case-control study. RESULTS: The TNF-alpha-308*2 polymorphism increased in subjects with atopic asthma vs. non-atopic controls after adjusting for age distribution (adjusted odds ratios, AOR=2.73, 95% confidence interval, CI=1.16-6.64), but was not associated with non-atopic asthma (AOR=2.40, 95% CI=0.81-7.09). LT-alpha-NcoI*1 did not show an independent association with either atopic asthma or any one phenotype of specific IgE. The synergistic effect between these two genes was conducted, and the interaction between TNF-alpha-308*2 and LT-alpha-NcoI*1 polymorphisms was seen for atopic asthma (OR=2.59, 95% CI=1.10-6.10) when compared with all controls. CONCLUSION: We have concluded that TNF-alpha-308 may be a risk factor for atopic asthma, whereas the LT-alpha-NcoI polymorphism may modify risk to atopic asthma with TNF-alpha-308.
Asunto(s)
Asma/genética , Hipersensibilidad/genética , Linfotoxina-alfa/genética , Factor de Necrosis Tumoral alfa/genética , Adolescente , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Humanos , Modelos Logísticos , Masculino , Reacción en Cadena de la Polimerasa/métodos , Regiones Promotoras Genéticas , Riesgo , TaiwánRESUMEN
Although family studies have established that asthma has a hereditary basis, little evidence has been presented about the family risk of simple asthma (AS or nonatopic asthma) and asthma with other atopic diseases (AWAD or atopic asthma) after adjusting for potential risk factors. In this study, data were collected on demographic variables and a wide range of known risk factors for asthma. Study participants were asthmatic adolescents and controls, and their relatives. The role of a familial history of asthma and atopic diseases in predicting asthma risk among asthmatic adolescents and their relatives was evaluated in a population-based family study conducted in southern Taiwan. Asthma risk factor data were collected through telephone interviews with students' parents for 207 asthmatic adolescents 11-16 years of age, their 1600 relatives, and 207 nonasthmatic adolescents in the control group and their 1638 relatives. The results show (after adjusting potential confounders) that a family history of asthma is highly associated with asthma in adolescents. Having two or more family members with asthma was associated with a 3.4-fold (95% confidence interval [CI] = 1.0-12.0) increased risk of asthma among adolescents. Logistic regression was used to assess the effects of having an asthmatic relative and the effect of atopic diseases among relatives of cases. Having a family history of asthma and other atopic conditions, such as rhinitis and atopic dermatitis (adjusted odds ratio [AOR] = 3.64, 95% CI = 2.29-5.74 and AOR = 1.94, 95% CI = 1.53-2.46, respectively), was found to be a significant predictor of asthma in children. Along with a history of allergic rhinitis or atopic dermatitis, familial risks of asthma occurring in adolescents with and without other atopic diseases will be analyzed separately. A critical finding was the significant difference in a risk of asthma and atopic diseases among the relatives of asthma cases with atopic diseases and controls. However, for relatives of asthma cases without atopic diseases compared to control probands, AORs were highly significant for family history of asthma, but not for the family history of atopic diseases. These findings suggest that both forms of asthma may be hereditary, but there are differences in their modes of inheritance. Atopic status itself did not predispose a child to AS. A concomitant inheritance of a predisposition to asthma and atopic condition for AWAD cases was suggested.
Asunto(s)
Asma/epidemiología , Asma/genética , Adolescente , Niño , Femenino , Humanos , Masculino , Linaje , Factores de Riesgo , TaiwánRESUMEN
Early studies that found significant linkage between markers on 5q and asthma and IgE have not been reproduced. In an attempt to improve the power of these studies we performed a variance components linkage analysis and transmission-disequilibrium tests (TDT) with haplotypes using markers on 5q, using the Southampton and Perth data sets supplied by GAW. The linkage analysis with covariates revealed a maximum lod of 1.57 in the Perth families. The addition of age and RAST significantly improved the fit of the null models but did not improve the lod scores. The TDT tests showed a marginally significant association with D5S393 and D5S399 and with three markers together (IL9, IL4, D5S393). We conclude that further studies are needed to delineate the environmental contribution to this disease so that the genetic factors can be more easily identified. In addition, haplotype analysis may help to identify specific genetic effects.
Asunto(s)
Asma/genética , Mapeo Cromosómico/estadística & datos numéricos , Cromosomas Humanos Par 5 , Desequilibrio de Ligamiento , Adolescente , Adulto , Análisis de Varianza , Asma/epidemiología , Australia , Niño , Inglaterra , Femenino , Predisposición Genética a la Enfermedad/genética , Haplotipos , Humanos , Masculino , Persona de Mediana EdadRESUMEN
OBJECTIVE: In the present study, we examined the factors affecting Aboriginal children's visits to a medical practitioner and compared them with non-Aboriginal children. METHODS: We selected five Aboriginal communities and four neighbouring non-Aboriginal communities, and conducted a door-to-door survey, covering all children born after 1983. Of an initial sample of 1013 children, 896 (response rate 89.92% for non-Aboriginal children and 85.87% for Aboriginal children) completed the questionnaire for analysis. RESULTS: In all, 896 children of non-mixed lineage with an age range of 0-12 years were collected into the study, including 316 Aborigines and 580 non-Aborigines. A higher percentage of non-Aboriginal children had more national health insurance coverage than Aboriginal children. The ratio of parents using the services of an out of community medical practitioner when their children were sick was higher for Aboriginal parents than for non-Aborigines. Medical injection frequency was higher in Aboriginal children. Linear regression was used to examine the factors affecting the frequency of physician utilization in the preceding month. CONCLUSION: A lower national health insurance coverage rate, and a higher rate of intramuscular injections for Aboriginal children plus difficulties in access to medical resources due to travel time and travel distance are still major problems for the Aborigines.