• Title/Summary/Keyword: genetic epidemiology

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Investigation of Genetic Evidence for Sasang Constitution Types in South Korea

  • Lee, Mi-Kyeong;Jang, Eun-Su;Sohn, Ho-Young;Park, Jeong-Yeon;Koh, Byung-Hee;Sung, Joo-Hon;Kim, Jong-Il;Kim, Jong-Yeol;Seo, Jeong-Sun
    • Genomics & Informatics
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    • v.7 no.2
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    • pp.107-110
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    • 2009
  • In Sasang constitutional medicine, both disease susceptibility and drug response are considered to be related to the characteristics of an individual's physiology and psychology: a theory which is central to traditional Korean medicine. Based on such observable characteristics, Sasang constitutional medicine classifies people into four constitutional types. Genetic studies of Sasang constitution would help reveal the inheritance patterns and models of the typological traits and, moreover, help with traditional medical diagnosis and treatment. To investigate the heritable aspect of Sasang constitution, we collected various pedigrees from South Korea. The study population has 101 pedigrees composed of 593 individuals. The determination of the Sasang constitution type of each individual was performed by doctors who diagnose the Sasang constitutional type of individuals as part of their professional practice. We calculated estimates of familial correlation and heritability. Parent-Offspring pairs showed the strongest familial correlation of Sasang constitutional type, with the correlation values of 0.21 and 0.28, followed by sibling pairs with the value ranging between 0.14 and 0.25. From the heritability analysis conducted with the Variance-Component method, the heritability of TE (Tae-Eum) type, SY (So-Yang) type, and SE (So-Eum) type were 55%, 41%, and 47%, respectively. This pattern of heritability was consistent with different set of analyses, which suggest the robustness of our result. Our result clearly shows that the Sasang constitution type is heritable, and further genetic analysis based on our result will shed light on the biological mechanism of Sasang constitution.

Sero-epidemiology and genetic characterization of swine influenza virus (돼지 인플루엔자 바이러스의 혈청학적 역학조사 및 유전학적 분석)

  • Lyoo, Young-soo;Kim, Lomi
    • Korean Journal of Veterinary Research
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    • v.38 no.1
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    • pp.53-63
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    • 1998
  • Total of 1085 swine sera (1996-1997) from nation-wide were tested for the presence of antibodies to influenza A virus. Fifty nine percent of the tested sera showed seropositive by HI test. Positive sera consisted of 24--- of H3, 15--- of H1, and 20--- of the sample had both antibodies, respectively. Sera collected from various region represented 7~27--- seropositivity to H1N1, 15~25--- to H3N2, respectively. Swine influenza field isolate from nasal swab was characterized antigenically and genetically to elucidate its relatedness with other known strains of influenza A virus. The study was focused on the HA gene which is related to pathogenecity and antigenic variability of the influenza virus. By RT-PCR using influenza A/H1N1 specific primers, influenza virus H1N1 specific DNA fragment was amplified from A/Swine/Iowa/15/30(H1N1), US field isolate but not in H3N2 strain. PCR products were sequenced by dideoxy chain termination method to determine nucleotide homology with other strains of influenza A virus. The US field isolate and A/Swine/Indiana/1726/88 strain had 97--- of nucleotide homology and 98--- of amino acid homology. Based on the results obtained from this experiment, the field isolate was genetically related to A/Swine/Indiana/1726/88 and had higher homology with A/Swine/Indiana/1726/88 than with classical swine influenza virus, A/Swine/Iowa/15/30. The field isolate had no amino acid changes at the antigenic site compare to that of the A/Swine/Indiana/1726/88. The proteolytic enzyme cleavage site between HA1 and HA2 had no alteration and the amino acid arginine was intact. There is no evidence has been found that the field isolate has genetic shift or genetic drift which might altered antigenic determinant.

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Application of Structural Equation Models to Genome-wide Association Analysis

  • Kim, Ji-Young;Namkung, Jung-Hyun;Lee, Seung-Mook;Park, Tae-Sung
    • Genomics & Informatics
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    • v.8 no.3
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    • pp.150-158
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    • 2010
  • Genome-wise association studies (GWASs) have become popular approaches to identify genetic variants associated with human biological traits. In this study, we applied Structural Equation Models (SEMs) in order to model complex relationships between genetic networks and traits as risk factors. SEMs allow us to achieve a better understanding of biological mechanisms through identifying greater numbers of genes and pathways that are associated with a set of traits and the relationship among them. For efficient SEM analysis for GWASs, we developed a procedure, comprised of four stages. In the first stage, we conducted single-SNP analysis using regression models, where age, sex, and recruited area were included as adjusting covariates. In the second stage, Fisher's combination test was conducted for each gene to detect significant genes using p-values obtained from the single-SNP analysis. In the third stage, Fisher's exact test was adopted to determine which biological pathways were enriched with significant SNPs. Finally, based on a pathway that was associated with the four traits in common, a SEM was fit to model a causal relationship among the genetic factors and traits. We applied our SEM model to GWAS data with four central obesity related traits: suprailiac and subscapular measures for upper body fat, BMI, and hypertension. Study subjects were collected from two Korean cohort regions. After quality control, 327,872 SNPs for 8842 individuals were included in the analysis. After comparing two SEMs, we concluded that suprailiac and subscapular measures may indirectly affect hypertension susceptibility by influencing BMI. In conclusion, our analysis demonstrates that SEMs provide a better understanding of biological mechanisms by identifying greater numbers of genes and pathways.

Prevalence and Genetic Characteristics of Japanese Encephalitis Virus among Mosquitoes and Pigs in Hunan Province, China from 2019 to 2021

  • Tang, Qiwu;Deng, Zaofu;Tan, Shengguo;Song, Guo;Zhang, Hai;Ge, Lingrui
    • Journal of Microbiology and Biotechnology
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    • v.32 no.9
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    • pp.1120-1125
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    • 2022
  • Japanese encephalitis virus (JEV), the causative agent of Japanese encephalitis (JE), is an importantly zoonotic, vector-borne virus widely prevalent in Asia. Although JE has been well controlled in China, its prevalence remains a huge threat to the pig industry as well as human health. Herein, we report on our molecular and serological investigations of JEV among pigs from different regions in Hunan Province of China from 2019 to 2021. Collectively, 19.27% (583/3026, 95% Confidential Interval (CI) 17.86-20.68) of sampled pigs were positive for JEV IgG antibody as revealed by indirect enzyme-linked immunosorbent assay, and the seroprevalence of JEV among pigs was significantly associated with the development stage and breeding scale (p < 0.01). Meanwhile, 10.99% (42/382, 95% CI 7.86-14.13) of tissue samples of pigs with suspected clinical symptoms of JE and 23.44% (15/64, 95% CI 13.06-33.82) of mosquito batches were JEV-positive via reverse polymerase chain reaction. In addition, the complete E gene sequences of 14 JEV strains identified in this study were amplified and sequenced. Phylogenetic analysis showed that all 14 JEV strains belonged to genotype I-b and displayed a distinct genetic relationship to the present JEV vaccine strain (SA14-14-2). In conclusion, our results revealed not only the severe prevalence of JEV in Hunan Province, but also that JEV I-b might be the predominant genotype in Hunan Province, suggesting therefore that effective measures for JE control are urgently needed.

A combination of red and processed meat intake and polygenic risk score influences the incidence of hyperuricemia in middle-aged Korean adults

  • Suyeon Lee;Dayeon Shin
    • Nutrition Research and Practice
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    • v.18 no.5
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    • pp.721-745
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    • 2024
  • BACKGROUND/OBJECTIVES: The high consumption of purine-rich meat is associated with hyperuricemia. However, there is limited evidence linking the consumption of red and processed meat to the genetic risk of hyperuricemia. We investigated the relationship between various combinations of red and processed meat consumption and the polygenic risk scores (PRSs) and the incidence of hyperuricemia in middle-aged Koreans. SUBJECTS/METHODS: We analyzed the data from 44,053 participants aged ≥40 years sourced from the Health Examinees (HEXA) cohort of the Korean Genome and Epidemiology Study (KoGES). Information regarding red and processed meat intake was obtained using a semiquantitative food frequency questionnaire (SQ-FFQ). We identified 69 independent single-nucleotide polymorphisms (SNPs) at uric acid-related loci using genome-wide association studies (GWASs) and clumping analyses. The individual PRS, which is the weighted sum of the effect size of each allele at the SNP, was calculated. We used multivariable Cox proportional hazards models adjusted for covariates to determine the relationship between red and processed meat intake and the PRS in the incidence of hyperuricemia. RESULTS: During an average follow-up period of 5 years, 2,556 patients with hyperuricemia were identified. For both men and women, the group with the highest red and processed meat intake and the highest PRS was positively associated with the development of hyperuricemia when compared with the group with the lowest red and processed meat intake and the lowest PRS (hazard ratio [HR], 2.72; 95% confidence interval [CI], 2.10-3.53; P < 0.0001; HR, 3.28; 95% CI, 2.45-4.40; P < 0.0001). CONCLUSION: Individuals at a high genetic risk for uric acid levels should moderate their consumption of red and processed meat to prevent hyperuricemia.

Application of Random Forests to Association Studies Using Mitochondrial Single Nucleotide Polymorphisms

  • Kim, Yoon-Hee;Kim, Ho
    • Genomics & Informatics
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    • v.5 no.4
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    • pp.168-173
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    • 2007
  • In previous nuclear genomic association studies, Random Forests (RF), one of several up-to-date machine learning methods, has been used successfully to generate evidence of association of genetic polymorphisms with diseases or other phenotypes. Compared with traditional statistical analytic methods, such as chi-square tests or logistic regression models, the RF method has advantages in handling large numbers of predictor variables and examining gene-gene interactions without a specific model. Here, we applied the RF method to find the association between mitochondrial single nucleotide polymorphisms (mtSNPs) and diabetes risk. The results from a chi-square test validated the usage of RF for association studies using mtDNA. Indexes of important variables such as the Gini index and mean decrease in accuracy index performed well compared with chi-square tests in favor of finding mtSNPs associated with a real disease example, type 2 diabetes.

n-3 지방산과 건강

  • Lee, Su-Hwan
    • Proceedings of the Korean Society of Food Hygiene and Safety Conference
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    • 1992.07a
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    • pp.1-5
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    • 1992
  • There is increasing awareness of the devastating socio-economic cost of cardiovascular disease. As a result there have been a lot of extensive researches both on basic mechanisms involved and on the areas of epidemiology and clinical trials. Now, it is being generally accepted that dietary n-3 fatty acids abundant in marine products, may reduce the incidence of cardiovascular disease. Fish oil, with its complement of n-3 fatty acids, has been shown to have diverse and sometimes potent actions on cells of the blood and vasculature, which may explain some of its positive effects on vascular disease. However, the appropriate intake of n-3 fatty acids has not been established. This may vary with desired effects, the duration of ingestion, the type of seafood or fish oil and amount of other fatty acids, especially nf fatty acid being consumed in the diet, Although the beneficial effects have been extensively studied, little is known about potential adverse effects with excessive intake of n-3 fatty acids. Thus, it is needed to study on the possible unfavorable effects including genetic effects.

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n-3 Fatty Acids (EPA, DHA) and Health (n-3 지방산과 건강)

  • 이수환
    • Journal of Food Hygiene and Safety
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    • v.7 no.2
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    • pp.101-105
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    • 1992
  • There is increasing awareness of the devastating socio-economic cost of cardiovascular disease. As a result there have been a lot of extensive researches both on basic mechanisms involved and on the areas of epidemiology and clinical trials. Now it is being generally accepted that dietary n-3 fatty acids abundant in marine products, may reduce the incidence of cadiovascular disease. Fish oil . with its complement of n-3 fatty acids, has been shown the have diverse and sometimes potent actions on cells of the blood and vasculature, which may explain some of its positive effects on vascular disease. However, the appropriate intake of n-3 fatty acids has not been established. This may vary with desired effects, the duration of ingestion, the type of seafood or fish oil and amount of other fatty acids, especially n-6 fatty acid being consumed in the diet. Although the beneficial effects have been extensively studied, little is known about potential adverse effects with excessive intake of n-3 fatty acids. Thus, it is needed to study on the possible unfavorable effects including genetic effects.

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DNA fingerprinting of Brucella abortus isolated from bovine brucellosis outbreaks by repetitive element sequence (rep)-PCR

  • Suh, Dong Kyun
    • Korean Journal of Veterinary Research
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    • v.45 no.2
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    • pp.199-205
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    • 2005
  • DNA fingerprint patterns of 8 Brucella reference strains and 15 B. abortus field isolates were characterized by repetitive element sequence-based PCR (rep-PCR) using BOX- and ERIC-primers in this study. AMOS PCR differentiated all Brucella field isolates from B. abortus RB51, a vaccine strain by producing a B. abortus-specific 498 bp band. Rep-PCR using BOX-primer produced 13 to 18 bands with sizes of between 230 and 3,300 bp, and discriminated Brucella strains to the species level except B. canis and B. suis. PCR products amplified with ERIC primers were, however, not appropriate for differentiating the Brucella isolates. DNA fingerprint patterns for all B. abortus field isolates were identical among them and were put on one cluster with B. abortus biovar 1 reference strain in the dendrogram, indicating they were highly clonal. These results suggested that rep-PCR using BOX primer might to be a useful tool for calculating genetic relatedness among the Brucella species and for the study of brucellosis epidemiology.

Intratypic Variants of HPV-16 E6jE7 Oncogene Isolated from Sexually High-Risk Women in Busan. (부산지역 유흥업소 종사여성으로부터 분리된 HPV16형의 발암유전자(E6/E7) 돌연변이 유형 분석)

  • Min, Sang-Kee;Kim, Sung-Soon;Choi, Byeong-Sun;Jang, Dai-Ho;Lee, Mee-Ok;Choi, Seung-Hwa;Kim, Nam-Ho;Park, Yon-Koung;Jeong, Yeong-A;Kim, Seong-Joon;Bin, Jae-Hun;Park, Ho-Kuk
    • Journal of Life Science
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    • v.19 no.6
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    • pp.765-769
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    • 2009
  • Recent studies have reported that the distribution of HPV-16 sequence variation differs geographically, and more specifically that HPV-16 E6/E7 intratypic variants might carry a high risk for development of ICC (invasive cervical cancer) and CIN (cervical intraepithelial neoplasia) in a given population. To investigate the genetic diversities of HPV-16 E6/E7 oncogene by region, we collected nineteen HPV-16 isolates from sexually high-risk women in Busan, and analyzed the HPV-16 E6/E7 coding regions (nt 34 to 880) with HPV-16 E6/E7 specific PCR amplification. At the nucleotide levet eleven variants of the E6 genes and nine variants of the E7 genes were identified as follows: E6 T178G (n=l1), E6 T178A (n=l), E6 T350G (n=3), E6 A442C (n=2), E6 AI04T, E6 All1G, E6 C116T, E6 G145T, E6 T183G, E6 C335T, E6 G522C and E7 A647G (n=12), E7 A645C, E7 A777C, E7 G663A, E7 T732C, E7 T760C, E7 A775T, E7 T789C and E7 T795G, respectively. At the amino acid levet the isolated HPV-16 E6 and E7 genes showed eleven E6 variants: E6 D25E (n=12), E6 L83V (n=4), E6 E113D (n=2), E6 MIL, E6 Q3R, E6 P5S, E6 Q14H, E6 D25N, E6 127R, E6 H78Y, E6 C140S and three E7 variants: N29S (n=12), L28F, T72S. HPV16 E6 L83V, the dominant variant in the Caucasian population, showed relatively low frequencies in our study population. We elucidated that the dominant HPV-16 E6/E7 variants were HPV-16 E6 D25E (63.2%) and HPV-16 E7 N29S (63.2%), which were phylogenetically included in Asian lineage. Further study is needed to evaluate the risk of cervical cancer related HPV-16 E6/E7 intratypic variants in the Korean population.