Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 293
Filtrar
1.
Cancer Biomark ; 2022 Oct 28.
Artigo em Inglês | MEDLINE | ID: mdl-36373307

RESUMO

BACKGROUND: Nicotine metabolite ratio (NMR) can be used to predict total nicotine clearance. However, it is unknown whether NMR could be used as a marker of lung cancer risk. OBJECTIVE: To evaluate the blood metabolites of nicotine relating to the risk of developing lung cancer and investigate the combined effects of NMR and cigarette per day on the risk of lung cancer. METHODS: Among the 1,054 eligible subjects from the Korean Cancer Prevention Study-II biobank cohort, those with cotinine values below 0 ng/ml were excluded. Slow and fast metabolizer groups were defined using the median value of the NMR, calculated with the control group data, as the cut-point. RESULTS: The multivariable Cox proportional hazard models demonstrated that, the fast metabolizer group had a significantly higher risk of lung cancer than the slow metabolizer group (Adjusted HR: 2.02, 95% CI: 1.32-3.10). Fast metabolizers who smoked more than 15 cigarettes per day had an even higher risk of lung cancer (Adjusted HR: 3.51, 95% CI: 1.96-6.29) than the slow metabolizers who smoked less than 15 cigarettes per day. CONCLUSIONS: In summary, the NMR may be an effective marker for estimating tobacco-related disease risks such as lung cancer.

2.
J Prev Med Public Health ; 55(5): 464-474, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-36229909

RESUMO

OBJECTIVES: We introduced the cohort studies included in the Korea Cohort Consortium (KCC), focusing on large-scale cohort studies established in Korea with a prolonged follow-up period. Moreover, we also provided projections of the follow-up and estimates of the sample size that would be necessary for big-data analyses based on pooling established cohort studies, including population-based genomic studies. METHODS: We mainly focused on the characteristics of individual cohort studies from the KCC. We developed "PROFAN", a Shiny application for projecting the follow-up period to achieve a certain number of cases when pooling established cohort studies. As examples, we projected the follow-up periods for 5000 cases of gastric cancer, 2500 cases of prostate and breast cancer, and 500 cases of non-Hodgkin lymphoma. The sample sizes for sequencing-based analyses based on a 1:1 case-control study were also calculated. RESULTS: The KCC consisted of 8 individual cohort studies, of which 3 were community-based and 5 were health screening-based cohorts. The population-based cohort studies were mainly organized by Korean government agencies and research institutes. The projected follow-up period was at least 10 years to achieve 5000 cases based on a cohort of 0.5 million participants. The mean of the minimum to maximum sample sizes for performing sequencing analyses was 5917-72 102. CONCLUSIONS: We propose an approach to establish a large-scale consortium based on the standardization and harmonization of existing cohort studies to obtain adequate statistical power with a sufficient sample size to analyze high-risk groups or rare cancer subtypes.


Assuntos
Neoplasias da Mama , Neoplasias Gástricas , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/genética , Estudos de Casos e Controles , Estudos de Coortes , Humanos , Masculino , República da Coreia/epidemiologia
3.
Epidemiol Health ; : e2022075, 2022 Sep 13.
Artigo em Inglês | MEDLINE | ID: mdl-36108669

RESUMO

Objectives: To investigate the factors affecting cancer survivors and develop a Korean mortality prediction model for cancer survivors. Our study identified lifestyle and mortality risk factors and attempted to determine if health-promoting lifestyles affect mortality. Methods: Among the 1,637,287 participants, 200,834 cancer survivors who were alive after cancer diagnosis were analyzed in the Korean Cancer Prevention Study (KCPS) cohort. Discrimination and calibration for predicting the 10-year mortality risk were evaluated. The prediction model was derived using the Cox model coefficients, mean risk factor values, and mean mortality from the cancer survivors in KCPS cohort. Results: During the 21.6-year follow-up, the all-cause mortality rates of cancer survivors were 57.2% and 39.4% in men and women, respectively. Men, older age, current smoking, and history of diabetes were high-risk factors for mortality. In contrast, exercise habits and a family history of cancer showed a reduced risk. The prediction model discriminations in the validation dataset for both KCPS all-cause mortality (KAR) and KCPS cancer mortality (KCR) were C-statistics, 0.69 and 0.68, respectively. Based on the constructed prediction models, when we modified exercise status and smoking status, which are modifiable factors, the risk of mortality of cancer survivors decreased linearly (30% to 9%). Moreover, there was an equally linear reduction in the risk of cancer-related mortality, decreasing from 24% to 3%. Conclusion: A mortality prediction model for cancer survivors was developed and may be helpful in supporting a healthy life. Lifestyle modifications in cancer survivors may affect the risk of mortality in the future.

4.
BMJ Open ; 12(7): e051865, 2022 07 18.
Artigo em Inglês | MEDLINE | ID: mdl-35851018

RESUMO

OBJECTIVE: While multiuse patterns of e-cigarettes (EC) or heated tobacco products (HTP) with conventional cigarettes (CC) have been reported, smoking cessation of multiusers is not well known. We aimed to analyse overall quit in triple users of CC, EC and HTP among healthy adults. METHODS: A questionnaire was conducted on 89 360 adults who visited the Korea Medical Institute health check-ups in Seoul, Korea, from May 2018 to September 2019. Among 38 812 ever smokers, 9252 were ever triple users of CC, EC and HTP. Frequency and related factors of overall quit were analysed in the cross-sectional study. RESULTS: The average age was 38.8±9.0 years, and 8458 (91.4%) were men. There were 5329 (57.6%) current triple users, 3547 (38.3%) single or dual product quitters and 376 (4.1%) overall quitters. Among the former triple users, the most common tobacco product use pattern was 'dual quit of EC and HTP (eg, current CC use)' both in men (21.3%) and women (26.3%). Age 60s or older (OR 8.5, 95% CI 5.2 to 13.8), women (OR 1.7, 95% CI 1.1 to 2.5), no hyperlipidaemia and married status were significantly related to overall quit. CONCLUSION: The most common pathway for 'ever triple users' of the three tobacco products was 'current triple users', and the second was 'CC users'. Single or dual product quitters could continue to smoke by EC or HTP instead of quit. Further research on overall quit will be needed to develop effective regulations.


Assuntos
Sistemas Eletrônicos de Liberação de Nicotina , Produtos do Tabaco , Tabagismo , Adulto , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , República da Coreia/epidemiologia
5.
Int J Colorectal Dis ; 37(8): 1827-1834, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35831458

RESUMO

PURPOSE: Immortal time bias (ITB) continues to distort many observational studies on metformin use and cancer risk. Our objective was to employ three statistical methods proven to avoid ITB and compare their results to that of a naïve time-fixed analysis in order to provide further evidence of metformin's association, or none thereof, with colorectal cancer (CRC) incidence. METHODS: A total of 41,533 Korean subjects with newly diagnosed type-2 diabetes in 2005-2015 were selected from a prospectively maintained cohort (median follow-up of 6.3 years). Time-to-CRC incidence was regressed upon metformin use (yes/no, average prescription days/year) using time-dependent Cox, landmark, nested case-control, and time-fixed Cox analyses. Other CRC risk factors were included to adjust for possible confounding. RESULTS: Neither metformin ever-use nor average metformin prescription days/year was associated with incident CRC hazard in time-dependent Cox, landmark, and nested case-control analyses with HR (95% CI) of 0.88 (0.68-1.13), 0.86 (0.65-1.12), and 1.10 (0.86-1.40) for metformin ever-use, and 0.97 (0.90-1.04), 0.95 (0.88-1.04), and 1.02 (0.95-1.10) for average metformin prescription days/year, respectively. In contrast, time-fixed Cox regression showed a falsely exaggerated protective effect of metformin on CRC incidence. CONCLUSION: The association between metformin use and subsequent CRC incidence was statistically nonsignificant after accounting for time-related biases such as ITB. Previous studies that avoided these biases and meta-analyses of RCTs on metformin and cancer incidence were in agreement with our results. A definitive, large-scale RCT is needed to clarify this topic, and future observational studies should be explicit in avoiding ITB and other time-related biases.


Assuntos
Neoplasias Colorretais , Diabetes Mellitus Tipo 2 , Metformina , Viés , Neoplasias Colorretais/complicações , Neoplasias Colorretais/epidemiologia , Diabetes Mellitus Tipo 2/complicações , Diabetes Mellitus Tipo 2/tratamento farmacológico , Diabetes Mellitus Tipo 2/epidemiologia , Humanos , Hipoglicemiantes/efeitos adversos , Incidência , Metformina/uso terapêutico , Fatores de Risco
6.
Metabolomics ; 18(8): 62, 2022 07 28.
Artigo em Inglês | MEDLINE | ID: mdl-35900644

RESUMO

INTRODUCTION: Monitoring metabolic biomarkers could be utilized as an effective tool for the early detection of gastric cancer (GC) risk. OBJECTIVE: We aimed to discover predictive serum biomarkers for GC and investigate biomarker-related metabolism. METHODS: Subjects were randomly selected from the Korean Cancer Prevention Study-II cohort and matched by age and sex. We analyzed baseline serum samples of 160 subjects (discovery set; control and GC occurrence group, 80 each) via nontargeted screening. Identified putative biomarkers were validated in baseline serum samples of 140 subjects (validation set; control and GC occurrence group, 70 each) using targeted metabolites analysis. RESULTS: The final analysis was conducted on the discovery set (control, n = 52 vs. GC occurrence, n = 50) and the validation set (control, n = 43 vs. GC occurrence, n = 44) applying exclusion conditions. Eighteen putative metabolite sets differed between two groups found on nontargeted metabolic screening. We focused on fatty acid-related energy metabolism. In targeted analysis, levels of decanoyl-L-carnitine (p = 0.019), L-carnitine (p = 0.033), and citric acid (p = 0.025) were significantly lower in the GC occurrence group, even after adjusting for age, sex, and smoking status. Additionally, L-carnitine and citric acid were confirmed to have an independently significant relationship to GC development. Notably, alkaline phosphatase showed a significant correlation with these two biomarkers. CONCLUSION: Changes in serum L-carnitine and citric acid levels that may result from alterations of fatty-acid-related energy metabolism are expected to be valuable biomarkers for the early diagnosis of GC risk.


Assuntos
Neoplasias Gástricas , Fosfatase Alcalina , Biomarcadores , Carnitina , Ácido Cítrico , Humanos , Metabolômica , República da Coreia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/metabolismo
7.
Endocrinol Metab (Seoul) ; 37(3): 466-474, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35798550

RESUMO

BACKGRUOUND: Diabetes is a leading cause of death that is responsible for 1.6 million annual deaths worldwide. However, the life expectancy and age at death of people with diabetes have been a matter of debate. METHODS: The National Health Insurance Service claims database, merged with death records from the National Statistical Information Service in Korea from 2006 to 2018, was analyzed. RESULTS: In total, 1,432,567 deaths were collected. The overall age at death increased by 0.44 and 0.26 year/year in the diabetes and control populations, respectively. The disparity in the mean age at death between the diabetes and control populations narrowed from 5.2 years in 2006 to 3.0 years in 2018 (p<0.001). In a subgroup analysis according to the presence of comorbid diseases, the number and proportion of deaths remained steady in the group with diabetes only, but steadily increased in the groups with diabetes combined with dyslipidemia and/or hypertension. Compared to the control population, the increase in the mean death age was higher in the population with diabetes. This trend was more prominent in the groups with dyslipidemia and/or hypertension than in the diabetes only group. Deaths from vascular disease and diabetes decreased, whereas deaths from cancer and pneumonia increased. The decline in the proportion of deaths from vascular disease was greater in the diabetes groups with hypertension and/or dyslipidemia than in the control population. CONCLUSION: The age at death in the population with diabetes increased more steeply and reached a comparable level to those without diabetes.


Assuntos
Diabetes Mellitus , Hipertensão , Causas de Morte , Pré-Escolar , Diabetes Mellitus/epidemiologia , Saúde Global , Humanos , Serviços de Informação , Programas Nacionais de Saúde
8.
Environ Res ; 214(Pt 2): 113805, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35810816

RESUMO

The incidence of thyroid cancer (TC) has increased considerably in the last few decades. Environmental factors, including plasticizers, are recognized as potential risks leading to thyroid cancer in humans. In this study, we used a transcriptome-metabolome-wide association study to find the unidentified carcinogenic mechanism of di-2-ethylhexyl phthalate (DEHP) in thyroid and biomarkers for non-invasive diagnosis. Rats were treated with different doses of DEHP (0, 0.3, 3, 30, 150 mg DEHP/kg bw/day) for 13 weeks. Then, the thyroids were processed for Ki67 staining and RNA-seq. Also, 17-h urine samples were collected for high-resolution metabolomics analysis. After a high dose of DEHP exposure, the terminal body weights and the thyroid and parathyroid glands weights were not altered. However, the liver weights and numbers of Ki67-positive cells were increased. Further, multivariate statistical analysis revealed that metabolic shifts were considerably altered above 30 mg DEHP/kg bw/day. In RNA-seq analysis, some cancer-related genes were altered, including 18 upregulated and 9 downregulated transcripts. These cancer transcripts and whole metabolome data were integrated to uncover thyroid cancer-related metabolic pathways, which revealed that cancer-related transcripts had a network structure linked to eicosanoids such as leukotriene D4 and prostaglandin. In brief, our study demonstrated that DEHP can induce thyroid hyperplasia through the eicosanoid-associated pathway, providing further insight into the mechanism of DEHP-associated thyroid cancer.


Assuntos
Dietilexilftalato , Neoplasias da Glândula Tireoide , Animais , Dietilexilftalato/toxicidade , Eicosanoides , Humanos , Antígeno Ki-67 , Metaboloma , Plastificantes , Ratos , Transcriptoma
9.
J Prev Med Public Health ; 55(3): 226-233, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35677996

RESUMO

OBJECTIVES: The aim of this study was to evaluate the subjective level of health-related quality of life of Korean healthcare workers using various quality-of-life instruments. METHODS: This study included 992 participants, who were doctors and nurses. A survey was conducted between November 28 and December 4, 2019. Data from 954 participants divided into 3 groups (physicians, residents, and nurses) were analyzed. Four measurement tools (29 questions) were used in the survey to evaluate subjective health status and well-being. RESULTS: In the Mayo Well-being Index, burnout during work (88.5%) and emotional difficulties caused by work (84.0%) were frequently cited by the respondents. Regarding questions on burnout and emotional difficulties, residents and nurses had the highest scores (91.0 and 89.6%, respectively). Emotional problems, such as anxiety, depression, and irritability, accounted for a high percentage (73.1%) of the total, while 82.2% of respondents reported that their work schedules interfered with their leisure and family time. There was no significant difference among the groups in subjective health status. However, 10.1% of the residents experienced very low quality of life, which was a higher proportion than that of physicians (2.7%) and nurses (5.2%). CONCLUSIONS: The level of well-being that Korean medical workers experienced in relation to work was lower than the results of the United States healthcare workers surveyed using the same tool. This study was unique in that it conducted a subjective quality-of-life survey on Korean healthcare workers.


Assuntos
Autoavaliação Diagnóstica , Pessoal de Saúde , Qualidade de Vida , Esgotamento Profissional/epidemiologia , Pessoal de Saúde/psicologia , Humanos , República da Coreia/epidemiologia , Inquéritos e Questionários
10.
Int J Cancer ; 151(10): 1726-1736, 2022 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-35765848

RESUMO

Several polygenic risk scores (PRSs) have been developed to predict the risk of colorectal cancer (CRC) in European descendants. We used genome-wide association study (GWAS) data from 22 702 cases and 212 486 controls of Asian ancestry to develop PRSs and validated them in two case-control studies (1454 Korean and 1736 Chinese). Eleven PRSs were derived using three approaches: GWAS-identified CRC risk SNPs, CRC risk variants identified through fine-mapping of known risk loci and genome-wide risk prediction algorithms. Logistic regression was used to estimate odds ratios (ORs) and area under the curve (AUC). PRS115-EAS , a PRS with 115 GWAS-reported risk variants derived from East-Asian data, validated significantly better than PRS115-EUR derived from European descendants. In the Korea validation set, OR per SD increase of PRS115-EAS was 1.63 (95% CI = 1.46-1.82; AUC = 0.63), compared with OR of 1.44 (95% CI = 1.29-1.60, AUC = 0.60) for PRS115-EUR . PRS115-EAS/EUR derived using meta-analysis results of both populations slightly improved the AUC to 0.64. Similar but weaker associations were found in the China validation set. Individuals among the highest 5% of PRS115-EAS/EUR have a 2.52-fold elevated CRC risk compared with the medium (41-60th) risk group and have a 12% to 20% risk of developing CRC by age 85. PRSs constructed using results from fine-mapping and genome-wide algorithms did not perform as well as PRS115-EAS and PRS115-EAS/EUR in risk prediction, possibly due to a small sample size. Our results indicate that CRC PRSs are promising in predicting CRC risk in East Asians and highlights the importance of using population-specific data to build CRC risk prediction models.


Assuntos
Neoplasias Colorretais , Estudo de Associação Genômica Ampla , Idoso de 80 Anos ou mais , Asiáticos/genética , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Predisposição Genética para Doença , Humanos , Polimorfismo de Nucleotídeo Único , Fatores de Risco
11.
Cancer Epidemiol Biomarkers Prev ; 31(6): 1216-1226, 2022 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-35266989

RESUMO

BACKGROUND: The etiology of colorectal cancer is not fully understood. METHODS: Using genetic variants and metabolomics data including 217 metabolites from the Framingham Heart Study (n = 1,357), we built genetic prediction models for circulating metabolites. Models with prediction R2 > 0.01 (Nmetabolite = 58) were applied to predict levels of metabolites in two large consortia with a combined sample size of approximately 46,300 cases and 59,200 controls of European and approximately 21,700 cases and 47,400 controls of East Asian (EA) descent. Genetically predicted levels of metabolites were evaluated for their associations with colorectal cancer risk in logistic regressions within each racial group, after which the results were combined by meta-analysis. RESULTS: Of the 58 metabolites tested, 24 metabolites were significantly associated with colorectal cancer risk [Benjamini-Hochberg FDR (BH-FDR) < 0.05] in the European population (ORs ranged from 0.91 to 1.06; P values ranged from 0.02 to 6.4 × 10-8). Twenty one of the 24 associations were replicated in the EA population (ORs ranged from 0.26 to 1.69, BH-FDR < 0.05). In addition, the genetically predicted levels of C16:0 cholesteryl ester was significantly associated with colorectal cancer risk in the EA population only (OREA: 1.94, 95% CI, 1.60-2.36, P = 2.6 × 10-11; OREUR: 1.01, 95% CI, 0.99-1.04, P = 0.3). Nineteen of the 25 metabolites were glycerophospholipids and triacylglycerols (TAG). Eighteen associations exhibited significant heterogeneity between the two racial groups (PEUR-EA-Het < 0.005), which were more strongly associated in the EA population. This integrative study suggested a potential role of lipids, especially certain glycerophospholipids and TAGs, in the etiology of colorectal cancer. CONCLUSIONS: This study identified potential novel risk biomarkers for colorectal cancer by integrating genetics and circulating metabolomics data. IMPACT: The identified metabolites could be developed into new tools for risk assessment of colorectal cancer in both European and EA populations.


Assuntos
Neoplasias Colorretais , Asiáticos , Estudos de Casos e Controles , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/metabolismo , Glicerofosfolipídeos , Humanos , Lipídeos , Metabolômica/métodos
12.
Epidemiol Health ; 44: e2022009, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34990528

RESUMO

OBJECTIVES: The purpose of this study was (1) to examine whether the addition of resting heart rate (RHR) to the existing undiagnosed diabetes mellitus (UnDM) prediction model would improve predictability, and (2) to develop and validate UnDM prediction models by using only easily assessable variables such as gender, RHR, age, and waist circumference (WC). METHODS: Korea National Health and Nutrition Examination Survey (KNHANES) 2010, 2012, 2014, 2016 data were used to develop the model (model building set, n=19,675), while the data from 2011, 2013, 2015, 2017 were used to validate the model (validation set, n=19,917). UnDM was defined as a fasting glucose level ≥126 mg/dL or glycated hemoglobin ≥6.5%; however, doctors have not diagnosed it. Statistical package for the social sciences logistic regression analysis was used to determine the predictors of UnDM. RESULTS: RHR, age, and WC were associated with UnDM. When RHR was added to the existing model, sensitivity was reduced (86 vs. 73%), specificity was increased (49 vs. 65%), and a higher Youden index (35 vs. 38) was expressed. When only gender, RHR, age, and WC were used in the model, a sensitivity, specificity, and Youden index of 70%, 67%, and 37, respectively, were observed. CONCLUSIONS: Adding RHR to the existing UnDM prediction model improved specificity and the Youden index. Furthermore, when the prediction model only used gender, RHR, age, and WC, the outcomes were not inferior to those of the existing prediction model.


Assuntos
Diabetes Mellitus , Adulto , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/epidemiologia , Frequência Cardíaca , Humanos , Inquéritos Nutricionais , República da Coreia/epidemiologia , Fatores de Risco , Circunferência da Cintura
13.
BMC Infect Dis ; 22(1): 47, 2022 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-35022007

RESUMO

BACKGROUND: COVID-19, caused by SARS-CoV-2 has become the most threatening issue to all populations around the world. It is, directly and indirectly, affecting all of us and thus, is an emerging topic dealt in global health. To avoid the infection, various studies have been done and are still ongoing. COVID-19 cases are reported all over the globe, and among the millions of cases, genetic similarity may be seen. The genetical common features seen within confirmed cases may help outline the tendency of infection and degree severity of the disease. Here, we reviewed multiple papers on SNPs related to SARS-CoV-2 infection and analyzed their results. METHODS: The PubMed databases were searched for papers discussing SNPs associated with SARS-CoV-2 infection and severity. Clinical studies with human patients and statistically showing the relevance of the SNP with virus infection were included. Quality Assessment of all papers was done with Newcastle Ottawa Scale. RESULTS: In the analysis, 21 full-text literature out of 2956 screened titles and abstracts, including 63,496 cases, were included. All were human-based clinical studies, some based on certain regions gathered patient data and some based on big databases obtained online. ACE2, TMPRSS2, and IFITM3 are the genes mentioned most frequently that are related to SARS-CoV-2 infection. 20 out of 21 studies mentioned one or more of those genes. The relevant genes according to SNPs were also analyzed. rs12252-C, rs143936283, rs2285666, rs41303171, and rs35803318 are the SNPs that were mentioned at least twice in two different studies. CONCLUSIONS: We found that ACE2, TMPRSS2, and IFITM3 are the major genes that are involved in SARS-CoV-2 infection. The mentioned SNPs were all related to one or more of the above-mentioned genes. There were discussions on certain SNPs that increased the infection and severity to certain groups more than the others. However, as there is limited follow-up and data due to a shortage of time history of the disease, studies may be limited.


Assuntos
COVID-19 , Saúde da População , Enzima de Conversão de Angiotensina 2/genética , Humanos , Proteínas de Membrana/genética , Polimorfismo de Nucleotídeo Único , Proteínas de Ligação a RNA , SARS-CoV-2 , Serina Endopeptidases/genética
14.
Biomedicines ; 9(9)2021 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-34572357

RESUMO

Renal hypouricemia is a rare genetic disorder. Hypouricemia can present as renal stones or exercise-induced acute renal failure, but most cases are asymptomatic. Our previous study showed that two recessive variants of SLC22A12 (p.Trp258*, pArg90His) were identified in 90% of the hypouricemia patients from two independent cohorts: the Korean genome and epidemiology study (KoGES) and the Korean Cancer Prevention Study (KCPS-II). In this work, we investigate the genetic causes of hypouricemia in the rest of the 10% of unsolved cases. We found a novel non-synonymous mutation of SLC2A9 (voltage-sensitive uric acid transporter) in the whole-exome sequencing (WES) results. Molecular dynamics prediction suggests that the novel mutation p.Met126Val in SLCA9b (p.Met155Val in SLC2A9a) hinders uric acid transport through a defect of the outward open geometry. Molecular analysis using Xenopus oocytes confirmed that the p.Met126Val mutation significantly reduced uric acid transport but does not affect the SLC2A9 protein expression level. Our results will shed light on a better understanding of SLC2A9-mediated uric acid transport and the development of a uric acid-lowering agent.

15.
Parasitol Res ; 120(9): 3297-3306, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34351493

RESUMO

Blastocystis sp. is a common zoonotic intestinal parasite of humans and animals, and has been classified into at least 17 distinct subtypes. Despite its potential impact on public health, the prevalence and subtype distribution of Blastocystis sp. have seldom been the study subject in South Korea. To determine the prevalence and subtype distribution of Blastocystis sp. and to obtain information on risk factors, we performed a cross-sectional study targeting elderly health checkup people, who visited Seoul Western Branch of the Korea Association of Health Promotion (KAHP) in October 2019. Stool samples were collected from 293 participants consisting of 128 males and 165 females with a mean age of 64.7 years (from 50 to 88 years) with a questionnaire on potential risk factors. All the samples were tested by PCR targeting the SSU rRNA gene of Blastocystis sp., and nucleotide sequences of positive samples were used to identify the subtypes. The overall prevalence of Blastocystis sp. was 9.2% (27/293). Among the positive samples, subtype 3 was predominant (59%; 16/27), followed by subtype 1 (41%; 11/27). No other subtypes were detected. In the univariable analysis, the age, sex, presence of digestive symptoms, source of drinking water, and history of drug intake were not significantly associated with Blastocystis sp. infection. Two parameters, including the Enterococcus hirae bacterial infection and the frequency of intake of cooked or boiled vegetables less than twice a week, showed statistical significance. However, the multivariable regression analysis revealed that only the latter parameter was statistically significant. The results suggested that subtypes 3 and 1 are the 2 major genotypes of Blastocystis sp. among elderly people in South Korea, and low frequency of consuming cooked or boiled vegetables is a potential risk factor.


Assuntos
Infecções por Blastocystis , Blastocystis , Idoso , Idoso de 80 Anos ou mais , Blastocystis/genética , Infecções por Blastocystis/epidemiologia , Estudos Transversais , Fezes , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Filogenia , Prevalência , República da Coreia/epidemiologia , Fatores de Risco , Inquéritos e Questionários
16.
Metabolites ; 11(8)2021 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-34436451

RESUMO

We aimed to investigate whether retinal and retinoic acid (RA), which are newly discovered biomarkers from our previous research, reliably predict type 2 diabetes mellitus (T2DM) development in subjects with impaired fasting glucose (IFG). Among the Korean Cancer Prevention Study (KCPS)-II cohort, subjects were selected and matched by age and sex (IFG-IFG group, n = 100 vs. IFG-DM group, n = 100) for study 1. For real-world validation of two biomarkers (study 2), other participants in the KCPS-II cohort who had IFG at baseline (n = 500) were selected. Targeted LC/MS was used to analyze the baseline serum samples; retinal and RA levels were quantified. In study 1, we revealed that both biomarkers were significantly decreased in the IFG-DM group (retinal, p = 0.017; RA, p < 0.001). The obese subjects in the IFG-DM group showed markedly lower retinal (p = 0.030) and RA (p = 0.003) levels than those in the IFG-IFG group. In study 2, the results for the two metabolites tended to be similar to those of study 1, but no significant difference was observed. Notably, the predictive ability for T2DM was enhanced when the metabolites were added to conventional risk factors for T2DM in both studies (study 1, AUC 0.682 → 0.775; study 2, AUC 0.734 → 0.786). The results suggest that retinal- and RA-related metabolic pathways are altered before the onset of T2DM.

17.
J Dermatol ; 48(11): 1763-1771, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34462957

RESUMO

The association between psoriasis and risk of psychiatric diseases has not been thoroughly evaluated in a large longitudinal cohort of the Asian population. We conducted a nationwide cohort study encompassing more than 1.6 million Koreans with a 12-year follow-up period. Patients were considered to be in the psoriasis cohort if they had an incident diagnostic code for psoriasis and included patients were followed up until they developed any psychiatric disease. In adjusted models, psoriasis patients (n = 10 868) were at an 18% increased risk for depression (hazard ratio [HR], 1.18; 95% confidence interval [CI], 1.09-1.26), 16% for anxiety disorders (HR, 1.16; 95% CI, 1.08-1.26), and 21% for somatoform disorders (HR, 1.21; 95% CI, 1.08-1.34) compared with the referent cohort (n = 1 620 055). Patients with moderate-to-severe psoriasis had a higher risk of developing depression and somatoform disorders than patient with mild disease (depression, HR, 1.28; 95% CI, 1.07-1.54 vs HR, 1.17; 95% CI, 1.07-1.27; somatoform disorders, HR, 1.60; 95% CI, 1.26-2.03 vs HR, 1.13; 95% CI, 1.00-1.28). Our results highlight the burden of psychiatric diseases in patients with psoriasis in Korea and suggest that appropriate medical support for possible mental illness is warranted in Asian psoriatic patients.


Assuntos
Transtornos Mentais , Psoríase , Estudos de Coortes , Humanos , Incidência , Transtornos Mentais/epidemiologia , Modelos de Riscos Proporcionais , Psoríase/epidemiologia , República da Coreia/epidemiologia , Fatores de Risco
19.
Cancers (Basel) ; 13(10)2021 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-34069208

RESUMO

In this study we aim to examine gene-environment interactions (GxEs) between genes involved with estrogen metabolism and environmental factors related to estrogen exposure. GxE analyses were conducted with 1970 Korean breast cancer cases and 2052 controls in the case-control study, the Seoul Breast Cancer Study (SEBCS). A total of 11,555 SNPs from the 137 candidate genes were included in the GxE analyses with eight established environmental factors. A replication test was conducted by using an independent population from the Breast Cancer Association Consortium (BCAC), with 62,485 Europeans and 9047 Asians. The GxE tests were performed by using two-step methods in GxEScan software. Two interactions were found in the SEBCS. The first interaction was shown between rs13035764 of NCOA1 and age at menarche in the GE|2df model (p-2df = 1.2 × 10-3). The age at menarche before 14 years old was associated with the high risk of breast cancer, and the risk was higher when subjects had homozygous minor allele G. The second GxE was shown between rs851998 near ESR1 and height in the GE|2df model (p-2df = 1.1 × 10-4). Height taller than 160 cm was associated with a high risk of breast cancer, and the risk increased when the minor allele was added. The findings were not replicated in the BCAC. These results would suggest specificity in Koreans for breast cancer risk.

20.
Sci Rep ; 11(1): 13066, 2021 06 22.
Artigo em Inglês | MEDLINE | ID: mdl-34158561

RESUMO

This study aimed to investigate the association between domain-specific physical activity (PA) and diabetes in Korean adults. We analyzed 26,653 men and women (aged > 18 years) from the Korea National Health and Nutrition Examination Survey (2014-2018). PA was measured using a validated Global PA Questionnaire. Multivariable logistic regression was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs) after adjustment for various confounders. Transport PA accounted for the majority of total PA (46%, men; 58%, women), followed by leisure-time PA (30%; 22%) and work PA (24%; 20%). In men, ORs (95% CI) of diabetes comparing ≥ 600 metabolic task of equivalent (MET)-min/week vs. no activity were 0.82 (0.71-0.95) for leisure-time PA, 0.85 (0.75-0.96) for transport PA, and 0.88 (0.78-0.99) for leisure-time + transport PA. In women, ORs (95% CI) of diabetes comparing the same groups were 0.73 (0.60-0.89) for leisure-time PA, 0.97 (0.85-1.10) for transport PA, and 0.88 (0.78-1.00) for leisure-time + transport PA. However, work PA showed no association with diabetes. In conclusion, leisure-time PA was inversely associated with diabetes in both men and women, while transport PA was inversely associated only in men. But work PA was not associated with diabetes in Korean adults.


Assuntos
Diabetes Mellitus/epidemiologia , Exercício Físico/fisiologia , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , República da Coreia/epidemiologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...