RESUMO
BACKGROUND: The polygenic risk score (PRS) is used to predict the risk of developing common complex diseases or cancers using genetic markers. Although PRS is used in clinical practice to predict breast cancer risk, it is more accurate for Europeans than for non-Europeans because of the sample size of training genome-wide association studies (GWAS). To address this disparity, we constructed a PRS model for predicting the risk of renal cell carcinoma (RCC) in the Korean population. RESULTS: Using GWAS analysis, we identified 43 Korean-specific variants and calculated the PRS. Subsequent to plotting receiver operating characteristic (ROC) curves, we selected the 31 best-performing variants to construct an optimal PRS model. The resultant PRS model with 31 variants demonstrated a prediction rate of 77.4%. The pathway analysis indicated that the identified non-coding variants are involved in regulating the expression of genes related to cancer initiation and progression. Notably, favorable lifestyle habits, such as avoiding tobacco and alcohol, mitigated the risk of RCC across PRS strata expressing genetic risk. CONCLUSION: A Korean-specific PRS model was established to predict the risk of RCC in the underrepresented Korean population. Our findings suggest that lifestyle-associated factors influencing RCC risk are associated with acquired risk factors indirectly through epigenetic modification, even among individuals in the higher PRS category.
Assuntos
Carcinoma de Células Renais , Neoplasias Renais , Humanos , Carcinoma de Células Renais/genética , Estratificação de Risco Genético , Estudo de Associação Genômica Ampla , Estilo de Vida , Neoplasias Renais/genética , República da Coreia/epidemiologiaRESUMO
BACKGROUND AND AIMS: The triglyceride-to-high density lipoprotein cholesterol (TG/HDL) ratio is associated with insulin resistance related diseases, including metabolic syndrome (MetS). However, specific TG/HDL values that can predict MetS have not been well identified. In this study, we analyzed both cross-sectional and longitudinal data from two national Korean datasets to obtain TG/HDL cut-off values that can identify MetS and predict its occurrence. METHODS AND RESULTS: To distinguish the presence and occurrence of MetS, the cut-off values were determined using the maximum F-score calculated through a logistic regression analysis. To predict new-onset MetS within 10 years, Cox proportional hazard models were used to consider the time of occurrence. The TG/HDL cut-off values of 3.97, 3.24, and 3.24 were optimal for identifying current MetS and predicting new-onset MetS within 10 years and five years, respectively, in Korean men. In Korean women, the optimal values for each task were 3.18, 2.38, and 2.26, respectively. CONCLUSIONS: We suggest the TG/HDL ratio as a potential candidate predictor for MetS. Therefore, we anticipate that future studies will apply individual lipid levels as well as their combinatory values to establish models that predict the prevalence and occurrence of MetS, diabetes, and cardiovascular disease.
Assuntos
Síndrome Metabólica , Pessoa de Meia-Idade , Masculino , Humanos , Feminino , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/epidemiologia , Síndrome Metabólica/complicações , Triglicerídeos , HDL-Colesterol , Estudos Transversais , República da Coreia/epidemiologiaRESUMO
Magnesium may have a significant impact on the development of cancer. However, the relationship between magnesium intake and the risk of colorectal cancer (CRC) is unclear. Therefore, we evaluated the association between magnesium intake and the risk of CRC, and we investigated how the insulin receptor (INSR) rs1799817 variant impacts this relationship. Data from 1,420 CRC patients and 2,840 controls from the Korean National Cancer Centre were analysed. A higher intake of magnesium was associated with a reduced risk of CRC in the total population (odds ratio (OR) = 0.65, 95% confidence interval (CI) = 0.52-0.81). We found that G + carriers of INSR rs1799817 with higher magnesium intake had a significantly lower risk of CRC (p for interaction = 0.003). Our findings indicated that high magnesium intake could be associated with a decreased risk of CRC, and this association could be modified by the INSR rs1799817 variant.
Assuntos
Neoplasias Colorretais , Magnésio , Receptor de Insulina , Humanos , Neoplasias Colorretais/genética , Receptor de Insulina/genética , Masculino , Estudos de Casos e Controles , Feminino , Pessoa de Meia-Idade , República da Coreia , Magnésio/administração & dosagem , Idoso , Fatores de Risco , Polimorfismo de Nucleotídeo Único , Antígenos CD/genética , Povo Asiático/genética , Predisposição Genética para Doença , Adulto , Razão de ChancesRESUMO
BACKGROUND: With the availability of health insurance claim data, pharmacovigilance for various drugs has been suggested; however, it is necessary to establish an appropriate analysis method. To detect unintended drug effects and to generate new hypotheses, we conducted a hypothesis-free study to systematically examine the relationship between all prescription nonanticancer drugs and the mortality of colorectal cancer patients. METHODS: We used the Korean National Health Insurance Service-National Sample Cohort database. A total of 2,618 colorectal cancer patients diagnosed between 2004 and 2015 were divided into drug discovery and drug validation sets (1:1) through random sampling. Drugs were classified using the Anatomical Therapeutic Chemical (ATC) classification system: 76 drugs classified as ATC level 2 and 332 drugs classified as ATC level 4 were included in the analysis. We used a Cox proportional hazard model adjusted for sex, age, colorectal cancer treatment, and comorbidities. The relationship between all prescription nonanticancer drugs and the mortality of colorectal cancer patients was analyzed, controlling for multiple comparisons with the false discovery rate. RESULTS: We found that one ATC level-2 drug (drugs that act on the nervous system, including parasympathomimetics, addictive disorder drugs, and antivertigo drugs) showed a protective effect related to colorectal cancer prognosis. At the ATC level 4 classification, 4 drugs were significant: two had a protective effect (anticholinesterases and opioid anesthetics), and the other two had a detrimental effect (magnesium compounds and Pregnen [4] derivatives). CONCLUSIONS: In this hypothesis-free study, we identified four drugs linked to colorectal cancer prognosis. The MWAS method can be useful in real-world data analysis.
Assuntos
Neoplasias Colorretais , Medicamentos sob Prescrição , Humanos , Estudos de Coortes , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/epidemiologia , República da CoreiaRESUMO
Stroke is the second leading cause of death in the world. Approximately 80% of strokes are ischemic in origin. Many risk factors have been linked to stroke, including an increased level of plasminogen activator inhibitor-1 (PAI-1). PAI-1 levels increase and remain elevated in blood during the acute phase of ischemic stroke, which can impair fibrinolytic activity, leading to coronary artery disease and arterial thrombotic disorders. Here, we present a case-control study of 574 stroke patients and 425 controls seen for routine health examination or treatment for nonspecific dizziness, nonorganic headache, or anxiety for positive family history of stroke at the Bundang Medical Center in South Korea. Polymorphisms in PAI-1 were identified by polymerase chain reaction/restriction fragment length polymorphism analysis using genomic DNA. Specifically, three variations (-675 4G>5G, 10692T>C, and 12068G>A) were linked to a higher overall prevalence of stroke as well as a higher prevalence of certain stroke subtypes. Haplotype analyses also revealed combinations of these variations (-844G>A, -675 4G>5G, 43G>A, 9785A>G, 10692T>C, 11053T>G, and 12068G>A) that were significantly associated with a higher prevalence of ischemic stroke. To the best of our knowledge, this is the first strong evidence that polymorphic sites in PAI-1 promoter and 3'-UTR regions are associated with higher ischemic stroke risk. Furthermore, the PAI-1 genotypes and haplotypes identified here have potential as clinical biomarkers of ischemic stroke and could improve the prognosis and future management of stroke patients.
Assuntos
AVC Isquêmico , Acidente Vascular Cerebral , Humanos , Estudos de Casos e Controles , População do Leste Asiático/genética , Predisposição Genética para Doença , Genótipo , AVC Isquêmico/genética , Inibidor 1 de Ativador de Plasminogênio/genéticaRESUMO
BACKGROUND: The effects of diet on the interaction between microbes and host health have been widely studied. However, its effects on the gut microbiota of patients with colorectal cancer (CRC) have not been elucidated. This study aimed to investigate the association between diet and the overall diversity and different taxa levels of the gut microbiota in CRC patients via the nutrition-wide association approach. METHODS: This hospital-based study utilized data of 115 CRC patients who underwent CRC surgery in Department of Surgery, Seoul National University Hospital. Spearman correlation analyses were conducted for 216 dietary features and three alpha-diversity indices, Firmicutes/Bacteroidetes ratio, and relative abundance of 439 gut microbial taxonomy. To identify main enterotypes of the gut microbiota, we performed the principal coordinate analysis based on the ß-diversity index. Finally, we performed linear regression to examine the association between dietary intake and main microbiome features, and linear discriminant analysis effect size (LEfSe) to identify bacterial taxa phylogenetically enriched in the low and high diet consumption groups. RESULTS: Several bacteria were enriched in patients with higher consumption of mature pumpkin/pumpkin juice (ρ, 0.31 to 0.41) but lower intake of eggs (ρ, -0.32 to -0.26). We observed negative correlations between Bacteroides fragilis abundance and intake of pork (belly), beef soup with vegetables, animal fat, and fatty acids (ρ, -0.34 to -0.27); an inverse correlation was also observed between Clostridium symbiosum abundance and intake of some fatty acids, amines, and amino acids (ρ, -0.30 to -0.24). Furthermore, high intake of seaweed was associated with a 6% (95% CI, 2% to 11%) and 7% (95% CI, 2% to 11%) lower abundance of Rikenellaceae and Alistipes, respectively, whereas overall beverage consumption was associated with an 10% (95% CI, 2% to 18%) higher abundance of Bacteroidetes, Bacteroidia, and Bacteroidales, compared to that in the low intake group. LEfSe analysis identified phylogenetically enriched taxa associated with the intake of sugars and sweets, legumes, mushrooms, eggs, oils and fats, plant fat, carbohydrates, and monounsaturated fatty acids. CONCLUSIONS: Our data elucidates the diet-microbe interactions in CRC patients. Additional research is needed to understand the significance of these results in CRC prognosis.
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Neoplasias Colorretais , Microbioma Gastrointestinal , Animais , Bactérias , Bovinos , Dieta , Ácidos Graxos/metabolismo , Fezes/microbiologia , HumanosRESUMO
BACKGROUND: Previous genomewide association studies (GWASs), single nucleotide polymorphisms (SNPs) on cyclin-dependent kinase inhibitor 2 A (CDKN2A), cyclin-dependent kinase inhibitor 2B (CDKN2B), and cyclin-dependent kinase inhibitor 2B antisense RNA1 (CDKN2B-AS1) were reported as risk loci for glioma, a subgroup of the brain tumor. To further characterize this association with the risk of brain tumors in a Korean population, we performed a fine-mapping association study of CDKN2A, CDKN2B, and CDKN2B-AS1. METHODS AND RESULTS: A total of 17 SNPs were selected and genotyped in 1,439 subjects which were comprised of 959 patients (pituitary adenoma 335; glioma 324; meningioma 300) and 480 population controls (PCs). We discovered that a 3'untranslated region (3'UTR) variant, rs181031884 of CDKN2B (Asian-specific variant), had significant association with the risk of pituitary adenoma (PA) (Odds ratio = 0.58, P = 0.00003). Also, rs181031884 appeared as an independent causal variant among the significant variants in CDKN2A and CDKN2B, and showed dose-dependent effects on PA. CONCLUSIONS: Although further studies are needed to verify the impact of this variant on PA susceptibility, our results may help to understand CDKN2B polymorphism and the risk of PA.
Assuntos
Glioma , Neoplasias Hipofisárias , RNA Longo não Codificante , Humanos , Inibidor de Quinase Dependente de Ciclina p15/genética , Regiões 3' não Traduzidas/genética , Inibidor p16 de Quinase Dependente de Ciclina/genética , Neoplasias Hipofisárias/genética , Polimorfismo de Nucleotídeo Único/genética , RNA Longo não Codificante/genética , Predisposição Genética para DoençaRESUMO
OBJECTIVES: This study aimed to investigate the anatomy of mandibular premolars from two perspectives-the canal configuration and radicular grooves-using cone-beam computed tomography (CBCT) in a large Korean population. MATERIALS AND METHODS: CBCT images of mandibles acquired from March 2018 to December 2019 for dental treatment were randomly selected. In each image, the root canal of premolars was classified into 8 types according to the canal merging or diverging pattern and the number of apical foramens. The presence and the location of radicular grooves were also assessed. Statistical analysis was performed. RESULTS: A total of 1463 first and 1448 s premolars from 732 patients (390 males, 342 females, mean age of 36.1 years) were evaluated. A single canal with one foramen predominated in both first (85.7%) and second (99.5%) premolars, while complete or partial multi-canals accounted for 14.3% and 0.5% of first and second premolars, respectively. The prevalence of radicular grooves was significantly higher in first premolars (13.2%) than in second premolars (0.5%) and in males (4.3%, n = 119) than in females (2.5%, n = 73). CONCLUSIONS: Although most premolars were complete single canals, the first premolars showed a relatively higher number of complex canals compared to the second premolar. In addition, radicular grooves in mandibular premolars were significantly more common in male patients. CLINICAL RELEVANCE: When planning the endodontic treatment of mandibular premolars, clinicians should be aware of their morphologic complexity, especially in the first premolar of male patients.
Assuntos
Cavidade Pulpar , Raiz Dentária , Adulto , Dente Pré-Molar/anatomia & histologia , Dente Pré-Molar/diagnóstico por imagem , Tomografia Computadorizada de Feixe Cônico/métodos , Cavidade Pulpar/anatomia & histologia , Cavidade Pulpar/diagnóstico por imagem , Feminino , Humanos , Masculino , Mandíbula/anatomia & histologia , Mandíbula/diagnóstico por imagem , República da Coreia , Raiz Dentária/anatomia & histologia , Raiz Dentária/diagnóstico por imagemRESUMO
OBJECTIVES: This study aimed to comprehensively characterise genetic variants of amelogenesis imperfecta in a single Korean family through whole-exome sequencing and bioinformatics analysis. MATERIAL AND METHODS: Thirty-one individuals of a Korean family, 9 of whom were affected and 22 unaffected by amelogenesis imperfecta, were enrolled. Whole-exome sequencing was performed on 12 saliva samples, including samples from 8 affected and 4 unaffected individuals. The possible candidate genes associated with the disease were screened by segregation analysis and variant filtering. In silico mutation impact analysis was then performed on the filtered variants based on sequence conservation and protein structure. RESULTS: Whole-exome sequencing data revealed an X-linked dominant, heterozygous genomic missense mutation in the mitochondrial gene holocytochrome c synthase (HCCS). We also found that HCCS is potentially related to the role of mitochondria in amelogenesis. The HCCS variant was expected to be deleterious in both evolution-based and large population-based analyses. Further, the variant was predicted to have a negative effect on catalytic function of HCCS by in silico analysis of protein structure. In addition, HCCS had significant association with amelogenesis in literature mining analysis. CONCLUSIONS: These findings suggest new evidence for the relationship between amelogenesis and mitochondria function, which could be implicated in the pathogenesis of amelogenesis imperfecta. CLINICAL RELEVANCE: The discovery of HCCS mutations and a deeper understanding of the pathogenesis of amelogenesis imperfecta could lead to finding solutions for the fundamental treatment of this disease. Furthermore, it enables dental practitioners to establish predictable prosthetic treatment plans at an early stage by early detection of amelogenesis imperfecta through personalised medicine.
Assuntos
Amelogênese Imperfeita , Amelogênese Imperfeita/genética , Odontólogos , Humanos , Liases , Mutação , Papel Profissional , República da CoreiaRESUMO
No studies have investigated the associations between established plant-based diet indices and the metabolic syndrome (MetS). We evaluated the associations between an overall plant-based diet index (PDI), healthy PDI (hPDI), unhealthy PDI (uPDI) and the MetS in a nationally representative sample using data from 14 450 Korean adults (≥19 years) in the Korea National Health and Nutrition Examination Survey 2012-2016. Dietary intakes were assessed by a semi-quantitative FFQ. In the PDI, all plant foods received positive scores. In the hPDI, only healthy plant foods received positive scores. In the uPDI, only unhealthy plant foods received positive scores. All indices reverse scored animal food intake. Multivariable logistic regression models were used to examine the associations between three PDI and the MetS by sex, adjusting for potential risk factors. A total of 23·3 % of Korean adults had the MetS. In the overall study population, individuals in the highest quintile of uPDI had greater odds (OR 1·54, 95 % CI 1·28, 1·86, Ptrend < 0·001) of the MetS than those in the lowest quintile. Higher uPDI score was associated with higher odds of hypertriacylglycerolaemia in men and abdominal obesity, high fasting glucose and hypertriacylglycerolaemia in women. No significant associations were observed between PDI, hPDI and the MetS. Greater adherence to unhealthy plant-based diets was associated with greater odds of the MetS and its components suggesting the importance of the quality of plant-based diet in South Korean adults. Sex differences may be considered when recommending plant-based diets for the prevention and management of metabolic diseases.
Assuntos
Dieta Saudável/estatística & dados numéricos , Dieta Vegetariana/estatística & dados numéricos , Síndrome Metabólica/epidemiologia , Adulto , Açúcares da Dieta/administração & dosagem , Grão Comestível , Feminino , Manipulação de Alimentos , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos Nutricionais , Obesidade Abdominal/epidemiologia , República da Coreia/epidemiologia , Fatores Socioeconômicos , Cloreto de Sódio na Dieta/administração & dosagemRESUMO
WHAT IS KNOWN AND OBJECTIVE: Age and gender have been reported to play a crucial role in modulating the disposition of pharmacological agents, and to influence the activities of cytochrome P450 (CYP) 2D6, a drug-metabolizing enzyme involved in the disposition of clinically used drugs. In the present study, the effects of age and gender on the CYP2D6 activity were evaluated using dextromethorphan as a probe drug in humans. METHODS: Healthy young (20 < age < 30 years, n = 60) and old age (age >60 years, n = 60) subjects were enrolled and were given 15 mg dextromethorphan orally. Blood samples were collected before and 3 h after medication. Dextromethorphan and its metabolite dextrorphan were measured using HPLC-fluorescence, and dextromethorphan metabolic ratio (MR, log [dextromethorphan/dextrorphan]) was used to evaluate the CYP2D6 activity. RESULTS AND DISCUSSION: Mean (±SD) dextromethorphan MR was -2.42 ± 0.46 for the young male group, -2.28 ± 0.56 for the young female group, -2.46 ± 0.55 for the older male group and -2.34 ± 0.65 for the old female group. Based on our findings, the effects of age and gender on CYP2D6 activity were not statistically significant. WHAT IS NEW AND CONCLUSION: The results of the present study indicate that age and gender play a minor role in the modulation of CYP2D6 activity in the Korean population.
Assuntos
Citocromo P-450 CYP2D6/metabolismo , Dextrometorfano/farmacocinética , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Povo Asiático , Dextrometorfano/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , República da Coreia , Fatores Sexuais , Adulto JovemRESUMO
BACKGROUND: Hepatitis B is known to cause several forms of liver diseases including chronic hepatitis B (CHB), and hepatocellular carcinoma. Previous genome-wide association study of CHB risk has demonstrated that rs12614 of complement factor B (CFB) was significantly associated with CHB risk. In this study, fine-mapping study of previously reported GWAS single nucleotide polymorphism (SNP; CFB rs12614) was performed to validate genetic effect of rs12614 on CHB susceptibility and identify possible additional causal variants around rs12614 in a Korean population. This association study was conducted in order to identify genetic effects of CFB single nucleotide polymorphisms (SNPs) and to identify additional independent CHB susceptible causal markers within a Korean population. METHODS: A total of 10 CFB genetic polymorphisms were selected and genotyped in 1716 study subjects comprised of 955 CHB patients and 761 population controls. RESULTS: A non-synonymous variant, rs12614 (Arg32Trp) in exon2 of CFB, had significant associations with risk of CHB (odds ratio = 0.43, P = 5.91 × 10- 10). Additional linkage disequilibrium and conditional analysis confirmed that rs12614 had independent genetic effect on CHB susceptibility with previously identified CHB markers. The genetic risk scores (GRSs) were calculated and the CHB patients had higher GRSs than the population controls. Moreover, OR was found to increase significantly with cumulative GRS. CONCLUSIONS: rs12614 showed significant genetic effect on CHB risk within the Korean population. As such rs12614 may be used as a possible causal genetic variant for CHB susceptibility.
Assuntos
Fator B do Complemento/genética , Éxons , Predisposição Genética para Doença , Hepatite B Crônica/genética , Polimorfismo de Nucleotídeo Único , Adulto , Estudos de Casos e Controles , Fator B do Complemento/deficiência , Fator B do Complemento/imunologia , Expressão Gênica , Hepatite B Crônica/diagnóstico , Hepatite B Crônica/imunologia , Hepatite B Crônica/patologia , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Razão de Chances , República da Coreia , RiscoRESUMO
BACKGROUND: We aimed to predict the incidence of obesity in a Korean population using a genetic risk score (GRS) constructed with obesity-related single nucleotide polymorphisms (SNPs) along with an oxidative stress score (OSS). METHODS: A total of 9460 Korean subjects and 356 974 SNPs were included. The GRS was constructed using three significant obesity-related SNP loci, and the OSS was calculated with three reliable oxidative stress biomarkers. RESULTS: The GRS showed a more significant association with increased obesity (OR = 2.879) than did individual SNPs after adjusting for age and sex. Three oxidative stress biomarkers, including malondialdehyde, oxidized low-density lipoprotein, and 8-epi-prostaglandin F2α , showed significantly high levels in the obese group. The OSS, which was the sum of each oxidative stress biomarker score, showed a markedly high association with the incidence of obesity, with an OR of 3.213. Based on the results of the regression tests and a receiver-operating characteristic (ROC) curve analysis, we found that HOMA-IR, high-sensitivity C-reactive protein (hs-CRP), the GRS, and the OSS were the most relevant factors for the increased risk of obesity and were significantly associated with the incidence of obesity. The area under the ROC curve was improved when the GRS was added to the model (from 74.2% to 75.1%). CONCLUSIONS: We first identified that subjects with an obesity GRS and a high OSS might have a higher risk of obesity. Our findings and weighting approaches were effective in predicting the incidence of obesity; furthermore, the GRS is a relevant factor that significantly predicts the risk of obesity.
Assuntos
Biomarcadores/análise , Predisposição Genética para Doença , Obesidade/epidemiologia , Estresse Oxidativo , Polimorfismo de Nucleotídeo Único , Antropometria , Estudos de Casos e Controles , Feminino , Seguimentos , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Obesidade/genética , Obesidade/patologia , Prognóstico , Curva ROC , República da Coreia/epidemiologia , Fatores de RiscoRESUMO
The InnoTyper 21® Human Identification kit consists of amelogenin and 20 bi-allelic Alus, retrotransposon markers existing abundantly in human genome. The InnoTyper 21® kit produces shorter amplicons (60-125 bp) than conventional short tandem repeat (STR) genotyping kit, then it is effective on the analysis of challengeable forensic samples including insufficient or highly degraded DNAs. Also, as the genotyping with InnoTyper21® kit is compatible with PCR and capillary electrophoresis, it is easy to incorporate into the workflow in forensic laboratories. In the internal validation of InnoTyper21® kit on sensitivity, degradation, and mixture studies for the evaluation in this study, we acquired full profiles on analyzing small concentration DNA (as low as 25 pg) and highly degraded DNA (up to 105 degradation index value). Through the Korean population study, forensic statistical parameters were investigated and a specific variant of T insertion in NBC51 was confirmed in six samples. Comparison of Korean population with five populations or 1000 Genomes Project data show Korean specific substructure. It is expected that the InnoTyper 21® kit will be used into the actual forensic cases, utilizing the population study investigated through this research.
Assuntos
Alelos , Elementos Alu , Povo Asiático/genética , Impressões Digitais de DNA/métodos , Loci Gênicos , Eletroforese Capilar , Feminino , Antropologia Forense/métodos , Humanos , Masculino , Reação em Cadeia da Polimerase , República da Coreia/etnologia , Sensibilidade e EspecificidadeRESUMO
BACKGROUND: The metabolic syndrome (MetS) has shown strong associations with the hypertriglyceridemic waist (HW) phenotype. The best anthropometric indicator of MetS remains controversial. Furthermore, no studies have investigated alternative indices that could replace waist circumference in the HW phenotype. The objectives of this study were to find the best indicator of MetS among anthropometric indices and to examine the predictive power of phenotypes consisting of triglyceride levels with anthropometric indices. METHODS: A total of 12,025 subjects participated in this retrospective cross-sectional study. All subjects were recruited between November 2016 and August 2007 from hospitals in 28 urban and rural regions in South Korea. The data analyzed in this study were obtained from the Korean Health and Genome Epidemiology Study database and the Korea Institute of Oriental Medicine. RESULTS: The proportion of patients with MetS ranged from 9 to 57% according to age and gender groups. Waist circumference (WC) was best indicator of MetS in men of all age groups. However, in women aged 40-49 years, the waist-to-height ratio (WHtR) was the best indicator of MetS. Rib circumference and chest circumference were the strongest indicators in women aged 50-59 years and 70-79 years, respectively. The combination of WC and triglyceride (TG) was the best indicator of MetS in men and women overall. However, interestingly, the best indicator was TG + WHtR in women aged 40-49 years and TG + forehead-to-waist ratio in women aged 70-79 years. CONCLUSIONS: The best indicator of MetS in terms of individual anthropometric indices and the various phenotypes combining a single anthropometric index with TG may differ subtly according to age group in women, but not in men. Our findings provide insight into a simple and inexpensive method that could be used to identify MetS in initial health screening efforts in epidemiology and public health.
Assuntos
Biomarcadores/sangue , Índice de Massa Corporal , Síndrome Metabólica/diagnóstico , Triglicerídeos/sangue , Circunferência da Cintura , Adulto , Idoso , Estudos Transversais , Feminino , Seguimentos , Humanos , Masculino , Síndrome Metabólica/sangue , Síndrome Metabólica/epidemiologia , Pessoa de Meia-Idade , Fenótipo , Prognóstico , Curva ROC , República da Coreia/epidemiologia , Estudos Retrospectivos , Fatores de RiscoRESUMO
BACKGROUND: To evaluate the prevalence of blepharoptosis among Korean adults and the characteristics of blepharoptosis patients, and to determine an appropriate age threshold for recommending blepharoptosis evaluation. METHODS: The Korean National Health and Nutrition Examination Survey (KNHANES-V) was conducted in 2010-2012. We extracted data on 17,878 Korean adults aged more than and equal to 19 years included in KNHANES-V, and determined blepharoptosis prevalence according to age, to determine the cutoff age for recommending blepharoptosis evaluation. We also determined the possible association between blepharoptosis and obesity parameters, such as body mass index (BMI) and waist circumference (WC). RESULTS: There was astrong association between older age and the prevalence of blepharoptosis. The cutoff age for recommending blepharoptosis evaluation was 63 years for males, 70 years for females, and 66 years for all patients. Patients with a high BMI and large WC had a higher prevalence of blepharoptosis in all age groups except for those aged over 80 years. The association of blepharoptosis with BMI according to age group showed that in the 50-59 and 60-69 years age groups, blepharoptosis prevalence and BMI were higher. However, in the 70-79 and 80-89 years age groups, extremely obese patients (BMI > 30) showed a decreased blepharoptosis prevalence. CONCLUSIONS: Moderate to severe blepharoptosis can result in poor visual function and exacerbate headaches and depression, leading to decreased quality of life. This study proposed an appropriate age threshold for recommending evaluation of patients with blepharoptosis among the general population of Korea.
Assuntos
Blefaroptose/epidemiologia , Índice de Massa Corporal , Inquéritos Nutricionais , Qualidade de Vida , Adulto , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , República da Coreia/epidemiologia , Estudos Retrospectivos , Fatores de RiscoRESUMO
BACKGROUND: China harbors 56 ethnic groups, including Korean, with a population size of approximately 1.92 million at the 2010 census. Most of the Koreans live in Northeastern parts of China, including Jilin (59.64%), Heilongjiang (20.21%), and Liaoning (12.55%) provinces, and the rest are spread to other parts of China. Koreans across China share a common culture, which is similar to Korea. METHODS: We have explored the genetic characteristics of 20 Y-chromosomal short tandem repeat (Y-STR) loci in 252 unrelated Chinese Korean male individuals from Jilin Province, using a Goldeneye 20Y amplification kit. Moreover, phylogenetic analysis was performed between the Korean population and other relevant populations based on the Y-STR haplotypes. RESULTS: We have found 237 different haplotypes among 252 unrelated individuals. The haplotype frequencies ranged from 0.0238 to 0.0040, while gene diversity ranged from 0.9666 (DYS385a/b) to 0.2260 (DYS391). The random match probability was 0.0048, the haplotype diversity was 0.9992 ± 0.0006 and discrimination capacity was 0.9405. Population comparison revealed that Korean populations are lining up together with other Korean populations from East Asia. CONCLUSION: Our results showed that the 20 Y-STR loci in the Yanbian Korean population are valuable for forensic application and human genetics. The Yanbian Koreans have lined up with other Korean population from China and Korea while showing significant differences from other East Asian populations.
Assuntos
Cromossomos Humanos Y/genética , Etnicidade/genética , Genética Populacional , Povo Asiático/genética , China , Frequência do Gene , Haplótipos , Humanos , Masculino , Filogenia , República da Coreia/etnologiaRESUMO
Sjogren's syndrome (SS), a chronic autoimmune disease, typically causes or involves inflammation in the salivary and lacrimal glands. Although recent genetic association studies have contributed to the discovery of SS susceptible genes, few studies have reported on the Korean population. Here, we did a genetic association study of SS in Korean patients using whole-exome sequencing data of 15 patients and 100 healthy controls. In addition to confirming previously described SS susceptibility loci MSH5 (pâ¯=â¯1.67â¯×â¯10-5) and RELN (pâ¯=â¯4.91â¯×â¯10-6), we also validated PRAMEF13 (pâ¯=â¯2.28â¯×â¯10-5), TARBP1 (pâ¯=â¯1.87â¯×â¯10-5), UGT2B28 (pâ¯=â¯1.33â¯×â¯10-5), TRBV5-6 (pâ¯=â¯2.27â¯×â¯10-5) and NAPB (pâ¯=â¯3.73â¯×â¯10-5) as novel susceptibility loci for SS. Furthermore, we identified UGT2B28, TARBP1 and PRAMEF13 as associated with human immune function. These findings may provide useful insight into to the pathways and pathogenesis contributing to SS susceptibility in the Korean population.
Assuntos
Povo Asiático , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único , Síndrome de Sjogren/epidemiologia , Síndrome de Sjogren/genética , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Proteína Reelina , República da Coreia/epidemiologiaRESUMO
BACKGROUND: Cutaneous carcinosarcoma is a rare biphasic tumor comprising malignant epithelial and heterologous mesenchymal elements. Data on the clinical and histopathologic characteristics of this tumor in Asian populations are not available. The purpose of this study was to investigate the clinicopathologic and immunohistochemical features of cutaneous carcinosarcoma in the Korean population. METHODS: We retrospectively reviewed the records of 11 patients with cutaneous carcinosarcoma who were diagnosed from 2006 to 2016. RESULTS: The mean patient age at diagnosis was 71.5 years (range, 43-96 years) and there was a men predilection. The most common site of cutaneous carcinosarcoma was the head and neck (8/11, 72.7%). Histopathologically, most tumors showed a characteristic morphology consisting of two types of tumor cells, varied differentiated epithelial cells (such as basal or squamous cells) and spindle cells with transition zones between the two components. These two cell types also demonstrated variable immunohistochemical characteristics. CONCLUSION: Although the number of cases in this study was limited, our results provide valuable insight into the clinical and histopathologic characteristics of cutaneous carcinosarcoma in the Korean population.
Assuntos
Carcinossarcoma/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Basocelular/metabolismo , Carcinoma Basocelular/patologia , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patologia , Carcinossarcoma/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Queratinas/metabolismo , Masculino , Pessoa de Meia-Idade , República da Coreia , Estudos Retrospectivos , Proteína Supressora de Tumor p53/metabolismoRESUMO
BACKGROUND: This study aimed at assessing the morphometry of resected femurs in Korean patients during total knee arthroplasty (TKA) and comparing these measurements with current Western-designed femoral component dimensions. METHODS: This single-blind, prospective, randomized, controlled trial involved intraoperative measurements for 271 femoral component implantations from 3 contemporary TKA systems, with 2 systems offering narrow sizing options. The difference between femoral component dimensions and the resected surface of distal femur was measured in millimeters at 5 distinct zones. RESULTS: Overhang of standard femoral component was common in the anterior-medial condyle and anterior-lateral condyle ranging from 50.8% to 99.0% and 21.5% to 88.0%, respectively. With narrow femoral components, the rate of overhang reduced to 21.5%-30.2% and 9.2%-32.1%. Conversely, underhang rates were higher over the anterior flange width, middle medial-lateral and posterior medial-lateral zones. Standard components displayed higher underhang rates at these zones compared to narrow components. The good fit rate for femoral component was low among the 3 systems ranging from 1.0% to 56.0%. System with narrow option sizing increases the underhang rates in males, while improving the component fit among females at similar zones with rate ranging from 5.2% to 52.9%. CONCLUSION: Currently available TKA implant designs may not provide a perfect match for the distal femoral shape of the Korean population. The availability of implants with standard and narrow options can substantially improve the optimal fitting of femoral components in the Korean population.