• Journal of Preventive Medicine and Public Health
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• v.32 no.4
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• pp.513-525
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• 1999

Objectives : High-normal blood pressure' is a factor influencing decision to initiate targeted intensive intervention strategy in westernized populations. JNC-VI offered the vigorous lifestyle modification for persons with 'high-normal blood pressure', who could be early detected. As a hypertension seems to be the result of multiple genetic factors operating in concert with associated environmental factors, it will be necessary to identify the high-normal blood pressure as a risk factor of hypertension for applying primary prevention strategy in Korean people. Methods : Although cohort study design might be adequate to recruit incidence cases, to keep time sequence of events, and to prevent information bias, nested case-control study was chosen for avoiding measurement errors because hypertension is a benign disease. Source population was the 'Seoul Cohort' participants and follow-up was done by using Korea Medical Insurance Corporation's database on the utilization of health services from 1 Jan93 to 30Jun97. Incidence cases were ascertained through the chart review, telephone contacts, and direct blood pressure measurements. Controls included the pairing of 4 individuals to each case on the basis of age. Results : As 75% of 247 incident cases had high-normal blood pressure, the crude odds ratio for hypertension was 2.04 (95% CI 1.47-2.83). Another statistically significant risk factors of hypertension were body mass index, dietary fiber, alcohol consumption, weekly activity and history of quitting smoking. The multivariate odds ratio of high-normal blood pressure adjusted for all risk factors was 1.84 (95% CI 1.31-2.56). Among high-normal blood pressure group, body mass index, weekly ethanol amounts, weekly physical activity, and dietary fiber except history of quitting smoking were still risk factors of hypertension. Conclusion : 'High-normal blood pressure' is a risk factor for hypertension in Korean middle-aged men, which represents that the vigorous lifestyle modification for persons with 'high-normal blood pressure' is need.

• Childhood Kidney Diseases
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• v.27 no.1
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• pp.19-25
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• 2023

Proteinuria is an important risk factor for renal and cardiovascular disease. It is associated with a risk for glomerulonephritis, chronic kidney disease, and end-stage renal disease. Therefore, if persistent proteinuria is detected, kidney biopsy is considered to diagnose and treat the underlying disease. Recently, variants in the cubilin (CUBN) gene, which is associated with albuminuria, have been reported. This gene encodes cubilin, a membrane glycoprotein receptor expressed in the renal proximal tubules. Cubilin is a component of the megalin and cubilin-amnionless complex that mediates albumin reabsorption into the proximal tubules through endocytosis. A defect in cubilin leads to a reduction in albumin reuptake, resulting in albumin-dominant proteinuria. Although numerous controversies exist, several reports suggest that cubilin defects lead to proteinuria with a high portion of albuminuria but may not impair renal filtration function. If albuminuria due to reduced cubilin function is confirmed as a benign condition, we can consider using genetic studies to detect CUBN mutations in patients with proteinuria and they may not require any treatment or kidney biopsy. Here, we review recent papers on CUBN mutations and discuss the prognosis and management of individuals with this mutation.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.7
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• pp.2839-2843
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• 2015

Background: MDR1, one of the most important drug-transporter genes, encodes P- glycoprotein (P-gp)-a transporter involved in protecting against xenobiotics and multi-drug resistance. The significance of the genetic background in childhood acute lymphoblastic leukemia (ALL) is not well understood. Materials and Methods: To evaluate whether C3435T and C1236T MDR1 polymorphisms are associated with the occurrence and outcome of ALL, 208 children with ALL (median age 5.0 yr) and 101 healthy Thai children were studied by polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP) assay. Results: C3435T and C1236T MDR1 polymorphism are significantly associated with the high-risk group (OR= 2.6, 95%CI =1.164-5.808; P=0.028 and OR= 2.231, 95%CI =1.068-4.659; p=0.047, respectively), indicating that both may be candidates for molecular markers in the high-risk group of ALL.

• Environmental Engineering Research
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• v.11 no.5
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• pp.277-284
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• 2006

The genetic toxicity of environmental pollutants, namely, nonylphenol (NP), bisphenol A (BPA) and chloropyriphos (CP) was investigated in aquatic sentinel species, freshwater crustacean, Daphnia magna, and larva of aquatic midge, Chironomus tentans, using Comet assay. Physiological effect of such pollutants was also investigated by studying the specimens' rates of reproduction, growth and survival. Acute toxicity results showed that, as expected, Daphnia was more sensitive than Chironomus to chemical exposure. The order of acute toxicity was CP > NP > BPA in D. magna and NP > CP > BPA in C. tentans. BPA may exert a genotoxic effect on D. magna and C. tentans, given that DNA strand breaks increased in both species exposed to this compound, whereas NP- and CP-induced DNA damage occurred only in C. tentans. In vivo genotoxic data obtained in aquatic sentinel species could provide valuable information for freshwater quality monitoring. The experiments with NP-exposed D. magna showed that the pollutant has long-term effects on reproduction, whereas no short-term effect on DNA integrity was found, being an example of a false-negative result from the biomarkers perspective. This result could be interpreted that other mechanism than genetic alteration might be involved in NP-induced reproduction failure in D. magna. False-positive results from the genotoxic biomarker obtained in BPA-exposed D. magna and in NP-exposed C. tentans make it difficult to use DNA integrity as an early warning biomarker. However, as the mere presence of genotoxic compounds, which are potentially carcinogenic, is of high concern to human and ecosystem health, it could also be important to rapidly and effectively detect genotoxic compounds in the aquatic system in ways that do not necessarily accompany a higher level of alteration. Considering the potential of D. magna and C. tentans as bioindicator species, and the importance of genotoxic biomarkers in ecotoxicity monitoring, DNA damage in these species could provide useful information for environmental risk assessment.

• Journal of Veterinary Science
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• v.22 no.5
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• pp.73.1-73.11
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• 2021

Background: Feline calicivirus (FCV) is a common pathogen of felids, and FCV vaccination is regularly practiced. The genetic variability and antigenic diversity of FCV hinder the effective control and prevention of infection by vaccination. Improved knowledge of the epidemiological characteristics of FCV should assist in the development of more effective vaccines. Objectives: This study aims to determine the prevalence of FCV in a population of cats with FCV-suspected clinical signs in Hangzhou and to demonstrate the antigenic and genetic relationships between vaccine status and representative isolated FCV strains. Methods: Cats (n = 516) from Hangzhou were investigated between 2018 and 2020. The association between risk factors and FCV infection was assessed. Phylogenetic analyses based on a capsid coding sequence were performed to identify the genetic relationships between strains. In vitro virus neutralization tests were used to assess antibody levels against isolated FCV strains in client-owned cats. Results: The FCV-positive rate of the examined cats was 43.0%. Risk factors significantly associated with FCV infection were vaccination status and oral symptoms. Phylogenetic analysis revealed a radial phylogeny with no evidence of temporal or countrywide clusters. There was a significant difference in the distribution of serum antibody titers between vaccinated and unvaccinated cats. Conclusions: This study revealed a high prevalence and genetic diversity of FCV in Hangzhou. The results indicate that the efficacy of FCV vaccination is unsatisfactory. More comprehensive and refined vaccination protocols are an urgent and unmet need.

• Clinical Nutrition Research
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• v.12 no.3
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• pp.199-217
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• 2023

People with higher genetic predisposition to obesity are more susceptible to cardiovascular diseases (CVDs) and healthy plant-based foods may be associated with reduced risks of obesity and other metabolic markers. We investigated whether healthy plant-foods-rich dietary patterns might have inverse associations with cardiometabolic risk factors in participants at genetically elevated risk of obesity. For this cross-sectional study, 377 obese and overweight women were chosen from health centers in Tehran, Iran. We calculated a healthy plant-based diet index (h-PDI) in which healthy plant foods received positive scores, and unhealthy plant and animal foods received reversed scores. A genetic risk score (GRS) was developed based on 3 polymorphisms. The interaction between GRS and h-PDI on cardiometabolic traits was analyzed using a generalized linear model (GLM). We found significant interactions between GRS and h-PDI on body mass index (BMI) (p = 0.02), body fat mass (p = 0.04), and waist circumference (p = 0.056). There were significant gene-diet interactions for healthful plant-derived diets and BMI-GRS on high-sensitivity C-reactive protein (p = 0.03), aspartate aminotransferase (p = 0.04), alanine transaminase (p = 0.05), insulin (p = 0.04), and plasminogen activator inhibitor 1 (p = 0.002). Adherence to h-PDI was more strongly related to decreased levels of the aforementioned markers among participants in the second or top tertile of GRS than those with low GRS. These results highlight that following a plant-based dietary pattern considering genetics appears to be a protective factor against the risks of cardiometabolic abnormalities.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.22
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• pp.9859-9863
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• 2014

Genetic epidemiological studies have shown that genetic susceptibility to esophageal cancer (EC) is an important cause of its high incidence within families in some areas of China. The purpose of this study was to obtain evidence of a genetic basis of EC in Xin-an and Xin-xiang counties in China. Familial aggregation and complex segregation analyses were performed of 79 EC families in these counties. The heritability of EC was examined using Falconer's method and complex segregation analysis was conducted with the SEGREG program in Statistical Analysis for Genetic Epidemiology (SAGE version 5.3.1). The results showed that the distribution of EC in families did not fit well into a binomial distribution. The heritability of EC among first-degree and second-degree relatives was $67.0{\pm}7.31%$ and $43.1%{\pm}9.80%$, respectively, and the summing up powered heritability was $53.2{\pm}6.74%$. The segregation ratio was 0.045. Complex segregation analysis showed that the genetic model of EC was additive. The current results provide evidence for an inherited propensity to EC in certain high-risk groups in China, and support efforts to identify the genes that confer susceptibility to this disease.

• Environmental Mutagens and Carcinogens
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• v.20 no.1
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• pp.26-33
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• 2000

Genetic polymorphisms of metabolizing enzymes to chemical carcinogens have been recognized as a major important host factors in human cancers. To datermine the frequencies of genotypes of CYP1A1 and GSTM1 metabolizing enzymes in healthy controls and head and neck cancer patients in Korean and to identify the relative high risk genotypes of these metabolizing enzymes to head and neck cancer, we have analyzed 133 head and neck cancer patients and corresponding healthy controls matched in age and sex using polymerase chain reaction-restriction fragment length polymorphism (PCR-RELP). In analysis of CYP1A1, the Val/Val genotype of exon 7 polymorphism and m2/m2 genotype of Msp 1 polymorphism were associated with higher relative risks to head and neck cancers (Odds ratio : 2.34, 95% CI : 0.79-6.96 and 1.27, 95% CI : 0.59-2.73, respectively). In combined genotyping of CYP1A1 and GSTMI enzymes polymorphisms, the patients with Val/Val ad GSTM1(-), and m1/m21 and GSTM1(-) combined genotypes had higher relative risks than the patients with each base genotype of combined genotypes (Odds ratio : 4.57, 95% CI : 0.5-41.25 and 1.65, 95% CI L 0.73-3.77, respectively). These results sugget the combined genotyping of metabolizing enzymes could be useful for predicting individual genetic susceptibility and screening the high risk subpopulation to head and neck cancer in Korea.

• Journal of Genetic Medicine
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• v.14 no.1
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• pp.31-33
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• 2017

Chromosomal loss in trisomy (trisomy rescue) to generate a disomic fetus can cause confined placental mosaicism and/or feto/placental mosaicism. After trisomy rescue event, there is a risk of fetal uniparental disomy (UPD). Noninvasive prenatal test (NIPT) reflects the genomic constitution of the placenta, not of the fetus itself. Feto-placental discrepancy can therefore cause false-positive (trisomy) NIPT results. These discordant NIPT results can serve as important clues to find UPD associated with confined placental mosaicism. We report a case with maternal UPD of chromosome 20, detected by NIPT of 1,000 high-risk pregnancies, carried out for detecting chromosomal abnormalities in Koreans.

• Nuclear Engineering and Technology
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• v.56 no.2
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• pp.644-654
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• 2024

After the Tohoku earthquake and tsunami (Japan, 2011), regulatory efforts to mitigate external hazards have increased both the safety requirements and the total capital cost of nuclear power plants (NPPs). In these circumstances, identifying not only disaster robustness but also cost-effective capacity setting of NPPs has become one of the most important tasks for the nuclear power industry. A few studies have been performed to relocate the seismic capacity of NPPs, yet the effects of multiple hazards have not been accounted for in NPP capacity optimization. The major challenges in extending this problem to the multihazard dimension are (1) the high computational costs for both multihazard risk quantification and system-level optimization and (2) the lack of capital cost databases of NPPs. To resolve these issues, this paper proposes an effective method that identifies the optimal multihazard capacity of NPPs using a multi-objective genetic algorithm and the two-stage direct quantification of fault trees using Monte Carlo simulation method, called the two-stage DQFM. Also, a capacity-based indirect capital cost measure is proposed. Such a proposed method enables NPP to achieve safety and cost-effectiveness against multi-hazard simultaneously within the computationally efficient platform. The proposed multihazard capacity optimization framework is demonstrated and tested with an earthquake-tsunami example.