• Title/Summary/Keyword: genetic epidemiology

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Molecular characterizations of phosphoprotein of rabies virus circulating in Korea

  • Kim, Ha-Hyun;Yang, Dong-Kun;Jeon, Jeong Kuk;Cho, Soo-Dong;Song, Jae-Young
    • Korean Journal of Veterinary Research
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    • v.52 no.1
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    • pp.9-18
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    • 2012
  • Rabies is a major zoonotic disease that causes approximately 55,000 human deaths worldwide on an annual basis. The nucleocapsid protein and glycoprotein genes of the Korean rabies virus (RABV) have been subjected to molecular and phylogenetic analyses. Although the phosphoprotein (P) has several important functions in viral infection and pathogenicity, the genetic characterizations of the P of Korean RABV isolates have not yet been established. In the present study, we conducted genetic analyses of P genes of 24 RABV isolates circulating in the Republic of Korea (hereafter, Korea) from 2008 to 2011. This study revealed that the P genes of Korean RABVs are genetically similar to those of RABV strains of lyssavirus genotype I including V739 (dogs, Korea), NNV-RAB-H (humans, India), NeiMeng925 (raccoon dogs, China), and RU9.RD (raccoon dogs, Russia). Among Korean isolates, the RABV P genes showed low variability in the variable domains among Korean isolates; they had specific consensus sequences and amino acid substitutions capable of identifying geographic characteristics and retained specific sequences thought to be important for viral function. These results provide important genetic characteristics and epidemiological information pertaining to the P gene of the Korean RABV.

Risk Assessment and Pharmacogenetics in Molecular and Genomic Epidemiology

  • Park, Sue-K.;Choi, Ji-Yeob
    • Journal of Preventive Medicine and Public Health
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    • v.42 no.6
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    • pp.371-376
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    • 2009
  • In this article, we reviewed the literature on risk assessment (RA) models with and without molecular genomic markers and the current utility of the markers in the pharmacogenetic field. Epidemiological risk assessment is applied using statistical models and equations established from current scientific knowledge of risk and disease. Several papers have reported that traditional RA tools have significant limitations in decision-making in management strategies for individuals as predictions of diseases and disease progression are inaccurate. Recently, the model added information on the genetic susceptibility factors that are expected to be most responsible for differences in individual risk. On the continuum of health care, from diagnosis to treatment, pharmacogenetics has been developed based on the accumulated knowledge of human genomic variation involving drug distribution and metabolism and the target of action, which has the potential to facilitate personalized medicine that can avoid therapeutic failure and serious side effects. There are many challenges for the applicability of genomic information in a clinical setting. Current uses of genetic markers for managing drug therapy and issues in the development of a valid biomarker in pharmacogenetics are discussed.

Genetic Diversity of Plasmodium vivax Causing Epidemic Malaria in the Republic of Korea

  • Bahk, Young Yil;Kim, Jeonga;Ahn, Seong Kyu;Na, Byoung-Kuk;Chai, Jong-Yil;Kim, Tong-Soo
    • Parasites, Hosts and Diseases
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    • v.56 no.6
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    • pp.545-552
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    • 2018
  • Plasmodium vivax is more challenging to control and eliminate than P. falciparum due to its more asymptomatic infections with low parasite densities making diagnosis more difficult, in addition to its unique biological characteristics. The potential re-introduction of incidence cases, either through borders or via human migrations, is another major hurdle to sustained control and elimination. The Republic of Korea has experienced re-emergence of vivax malaria in 1993 but is one of the 32 malaria-eliminating countries to-date. Despite achieving successful nationwide control and elimination of vivax malaria, the evolutionary characteristics of vivax malaria isolates in the Republic of Korea have not been fully understood. In this review, we present an overview of the genetic variability of such isolates to increase understanding of the epidemiology, diversity, and dynamics of vivax populations in the Republic of Korea.

Spatial and Temporal Genetic Diversity and Population Structure of Hemileia vastatrix from Peruvian Coffee Plantations

  • Quispe-Apaza, Cinthia;Mansilla-Samaniego, Roberto;Espejo-Joya, Rosa;Bernacchia, Giovanni;Yabar-Larios, Marisela;Lopez-Bonilla, Cesar
    • The Plant Pathology Journal
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    • v.37 no.3
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    • pp.280-290
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    • 2021
  • Population genetic studies of Hemileia vastatrix have been conducted in order to describe the evolutionary dynamics of the pathogen and the disease epidemiology as consequence of changes in disease management and host distribution occurred in Peru after the 2013 epidemic. These analyses were performed by sequencing the internal transcribed spacers of the nuclear ribosomal DNA (rDNA-ITS) of H. vastatrix collected from two coffee growing areas in 2014 and 2018. H. vastatrix population showed high haplotype diversity (Hd = 0.9373 ± 0.0115) with a low nucleotide diversity (π = 0.00322 ± 0.00018). Likewise, AMOVA indicated that fungus population has behaved as a large population without structuring by geographical origin and sampling years (FST = 0.00180, P = 0.20053 and FST = 0.00241, P = 0.19693, respectively). Additionally, the haplotype network based on intraspecific phylogenetic analysis of H. vastatrix using Peruvian and NCBI sequences revealed that Peruvian ancestral haplotypes, which were maintained in time and space, would correspond to the reported sequences of the races II and XXII. This result suggests that no substantial changes have occurred through time in Peruvian Hemileia vastatrix population.

New Perspectives in Pediatric Nonalcoholic Fatty Liver Disease: Epidemiology, Genetics, Diagnosis, and Natural History

  • Ko, Jae Sung
    • Pediatric Gastroenterology, Hepatology & Nutrition
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    • v.22 no.6
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    • pp.501-510
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    • 2019
  • Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease in children. The global prevalence of pediatric NAFLD from general populations is 7.6%. In obese children, the prevalence is higher in Asia. NAFLD has a strong heritable component based on ethnic difference in the prevalence and clustering within families. Genetic polymorphisms of patatin-like phospholipase domain-containing protein 3 (PNPLA3), transmembrane 6 superfamily member 2, and glucokinase regulatory protein (GCKR) are associated with the risk of NAFLD in children. Variants of PNPLA3 and GCKR are more common in Asians. Alterations of the gut microbiome might contribute to the pathogenesis of NAFLD. High fructose intake increases the risk of NAFLD. Liver fibrosis is a poor prognostic factor for disease progression to cirrhosis. Magnetic resonance spectroscopy and magnetic resonance proton density fat fraction are more accurate for steatosis quantification than ultrasound. Noninvasive imaging methods to assess liver fibrosis, such as transient elastography, shear-wave elastography, and magnetic resonance elastography are useful in predicting advanced fibrosis, but they need further validation. Longitudinal follow-up studies into adulthood are needed to better understand the natural history of pediatric NAFLD.

Recent Trends of Lung Cancer in Korea

  • Lee, Jae Guk;Kim, Ho Cheol;Choi, Chang-Min
    • Tuberculosis and Respiratory Diseases
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    • v.84 no.2
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    • pp.89-95
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    • 2021
  • Lung cancer is one of the leading causes of cancer-related deaths in Korea. Although the smoking rate has decreased over time, the prevalence of lung cancer still remains high. In this study, we reviewed recent trends on the incidence, epidemiology, screening, diagnosis, and treatment of lung cancer in Korea by analyzing data from the national lung cancer registry and recently-published studies. Although approximately 40% of patients with non-small cell lung cancer (NSCLC) were diagnosed as stage IV, the 5-year relative survival rate improved from 11.3% (1993-1995) to 30.2% (2013-2017), possibly due to advances in methods of diagnosis and therapy. In addition, the 2019 implementation of the national lung cancer screening program with low-dose computed tomography may have also contributed to these improvements in survival rates. Recently, molecular diagnosis has become more widely used in the identification of genetic mutations in tissue specimens. Target therapy and immune checkpoint inhibitors have also been successfully used, particularly in cases of advanced NSCLC. In the future, further research on the optimal management of lung cancer remains necessary.

Status of Nosocomial Urinary Tract Infections in the ICU: Molecular Epidemiology of Imipenem Resistant P. aeruginosa (중환자실내 병원성 요로감염 실태와 전파경로: Imipenem Resistant P. aeruginosa[IRPA]의 분자역학적 특성을 중심으로)

  • Yu, Seong-Mi;Jeon, Seong-Sook;Kang, In-Soon;An, Hye-Gyung
    • Journal of Korean Academy of Nursing
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    • v.36 no.7
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    • pp.1204-1214
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    • 2006
  • Purpose: This retrospective study was done to evaluate the status of nosocomial urinary tract infections and to determine the risk factors and transmission route of causal IRPA through molecular epidemiology. Method: Two hundred ninety-nine of 423 patients admitted to the internal medicine and surgery ICU at a university hospital incity B had a positiveurine culture. Twelve of the 299 patients who had a urinary tract infection had IRPA strains. The data was collected from November 1, 2004 to January 31, 2005. The following results were obtained after the data was analyzed using percentile and UPGMA. Result: The rate of nosocomial urinary tract infections in the ICU was 10.8%. Therewere 16.8 cases of infection based on the period of hospitalization. There were 16.9 cases of infection based on the use of a foley catheter. The rate of nosocomial urinary tract infection in the ICU and urinary tract infections related to IRPA were higher in patients with the following characteristics: men, old age, admission through the emergency room, longer than seven days admission, severity of admitting causes, disturbance of consciousness, hydration less than 300cc in 24hours, a long course of antibiotics, a long period of foley catheterization and perineal care. Most of the microorganisms that caused the urinary tract infection were gram negative bacilli, among which P. aeruginosa was found in 70 patients (18.5%) and IRPA in 12 (4.0%). Among the 12 IRPA strains that were tested with PFGE, eight showed a dice coefficient higher than 80%, suggesting a genetic relationship. They were related with the period of hospitalization in the same ICU. These patients all received direct care for a urinary tract infection. Conclusion: Through these results, IRPA can be consideredas a contributing factors to urinary tract infections thus, active preventative measures are needed by the medical staff.

Molecular Epidemiology and Prevalence of Echovirus 30 in Zhejiang Province, China, from 2002 to 2015

  • Chen, Yin;Sun, Yi;Yan, Juying;Miao, Ziping;Xu, Changping;Zhang, Yanjun;Mao, Haiyan;Gong, Liming
    • Journal of Microbiology and Biotechnology
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    • v.27 no.12
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    • pp.2221-2227
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    • 2017
  • Echovirus serotype 30 (ECHO30) has been responsible for several recent worldwide outbreaks of viral meningitis. In Zhejiang Province, China, ECHO30 has been one of the main causes of viral meningitis for years. This study, using phylogenetic analysis of the VP1 gene, was performed to investigate the general molecular epidemiology and genetic patterns of ECHO30 circulating in Zhejiang Province between the years 2002 and 2015. The nucleotide sequences of ECHO30 VP1 showed that they were 64.8% identical with the prototype strain, Bastianni, while the amino acids were 84.9% identical. Phylogenetic analyses showed that ECHO30 in the Zhejiang area has diverged into two genotypes. Genotype I consists of strains isolated since 2002, whereas genotype II includes strains that were mainly isolated during the 2002 to 2004 outbreak. ECHO30 has been endemically circulating in both humans and the environment for a long period of time. Additionally, we evaluated the significance of recombination presented during the years 2005 to 2007 to demonstrate that recombination plays an important role in the prevalence of ECHO30 in the Zhejiang area.

Genome-Wide Association Study of Orthostatic Hypotension and Supine-Standing Blood Pressure Changes in Two Korean Populations

  • Hong, Kyung-Won;Kim, Sung Soo;Kim, Yeonjung
    • Genomics & Informatics
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    • v.11 no.3
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    • pp.129-134
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    • 2013
  • Orthostatic hypotension (OH) is defined by a 20-mm Hg difference of systolic blood pressure (dtSBP) and/or a 10-mm Hg difference of diastolic blood pressure (dtDBP) between supine and standing, and OH is associated with a failure of the cardiovascular reflex to maintain blood pressure on standing from a supine position. To understand the underlying genetic factors for OH traits (OH, dtSBP, and dtDBP), genome-wide association studies (GWASs) using 333,651 single nucleotide polymorphisms (SNPs) were conducted separately for two population-based cohorts, Ansung (n = 3,173) and Ansan (n = 3,255). We identified 8 SNPs (5 SNPs for dtSBP and 3 SNPs for dtDBP) that were repeatedly associated in both the Ansung and Ansan cohorts and had p-values of < $1{\times}10^{-5}$ in the meta-analysis. Unfortunately, the SNPs of the OH case control GWAS did not pass our p-value criteria. Four of 8 SNPs were located in the intergenic region of chromosome 2, and the nearest gene (CTNNA2) was located at 1 Mb of distance. CTNNA2 is a linker between cadherin adhesion receptors and the actin cytoskeleton and is essential for stabilizing dendritic spines in rodent hippocampal neurons. Although there is no report about the function in blood pressure regulation, hippocampal neurons interact primarily with the autonomic nervous system and might be related to OH. The remaining SNPs, rs7098785 of dtSBP trait and rs6892553, rs16887217, and rs4959677 of dtDBP trait were located in the PIK3AP1 intron, ACTBL2-3' flanking, STAR intron, and intergenic region, respectively, but there was no clear functional link to blood pressure regulation.