• 한국동물학회:학술대회논문집
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• 한국동물학회 2003년도 한국생물과학협회 학술발표대회
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• pp.207.3-207
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• 2003

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• 한국유전체학회:학술대회논문집
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• 한국유전체학회 2006년도 The 15th Korean Genome Organization Conference KOGO 2006 Annual Meeting
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• pp.37-37
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• 2006

• 한국식생활문화학회지
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• 제35권3호
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• pp.311-322
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• 2020

Recently, there is growing interest in studying the dietary patterns that affect the risk of circulatory system diseases (CSDs). We investigated the relationship between CSDs and dietary patterns through a follow-up study in Korea (2001-2016). The participants of this study were obtained from the Korean Genome and Epidemiology Study (KoGES). This study was a large community-based cohort study (the Ansan-Ansung areas) conducted to assess the effects of various factors, especially diet, on the onset of chronic diseases among the Korean population aged 40-69 yrs. Baseline data were collected from 2001 to 2002, and follow-up studies were performed every 2 yrs, with over 7 follow-up studies performed (2015-2016). Three dietary patterns were identified using factor analysis: "vegetable and seafood (men)/soup and stew (women)" pattern, "sweet foods and breads-rice cake" pattern, and "multigrain rice and cooked white rice" pattern. None of the dietary patterns were significantly associated with the risk of CSDs in either men or women. Our follow-up study is meaningful as it investigated whether the dietary patterns of individuals according to sex affects the development of CSDs.

• Genomics & Informatics
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• 제11권3호
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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.

• BMB Reports
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• 제38권1호
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• pp.77-81
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• 2005

The monocyte chemotactic protein-3 (MCP3), on chromosome 17q11.2-q12, is a secreted chemokine, which attracts macrophages during inflammation and metastasis. In an effort to discover additional polymorphism(s) in genes whose variant(s) have been implicated in asthma, we scrutinized the genetic polymorphisms in MCP3 to evaluate it as a potential candidate gene for asthma host genetic study. By direct DNA sequencing in twenty-four individuals, we identified four sequence variants within the 3 kb full genome including 1,000bp promoter region of MCP3; one in promoter region (-420T>C), three in intron (+136C>G, +563C>T, +984G>A) respectively. The frequencies of those four SNPs were 0.020 (-420T>C), 0.038 (+136C>G), 0.080 (+563C>T), 0.035 (+984G>A), respectively, in Korean population (n = 598). Haplotypes, their frequencies and linkage disequilibrium coefficients (|D'|) between SNP pairs were estimated. The associations with the risk of asthma, skin-test reactivity and total serum IgE levels were analyzed. Using statistical analyses for association of MCP3 polymorphisms with asthma development and asthma-related phenotypes, no significant signals were detected. In conclusion, we identified four genetic polymorphisms in the important MCP3 gene, but no significant associations of MCP3 variants with asthma phenotypes were detected. MCP3 variation/haplotype information identified in this study will provide valuable information for future association studies of other allergic diseases.

• Journal of Preventive Medicine and Public Health
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• 제42권6호
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• pp.356-359
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• 2009

In the more than 100 genome wide association studies (GWAS) conducted in the past 5 years, more than 250 genetic loci contributing to more than 40 common diseases and traits have been identified. Whilst many genes have been linked to a trait, both their individual and combined effects are small and unable to explain earlier estimates of heritability. Given the rapid changes in disease incidence that cannot be accounted for by changes in diagnostic practises, there is need to have well characterized exposure information in addition to genomic data for the study of gene-environment interactions. The case-control and cohort study designs are most suited for studying associations between risk factors and occurrence of an outcome. However, the case control study design is subject to several biases and hence the preferred choice of the prospective cohort study design in investigating geneenvironment interactions. A major limitation of utilising the prospective cohort study design is the long duration of follow-up of participants to accumulate adequate outcome data. The GWAS paradigm is a timely reminder for traditional epidemiologists who often perform one- or few-at-a-time hypothesis-testing studies with the main hallmarks of GWAS being the agnostic approach and the massive dataset derived through large-scale international collaborations.

• Journal of Nutrition and Health
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• 제40권3호
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• pp.259-269
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• 2007

Recently, dietary pattern analysis was emerged as an approach to examine the relationships between diet and risk of chronic diseases. This study was to identify groups with population who report similar dietary pattern in Korean genome epidemiology study (KoGES) and association with several chronic diseases. The cohort participants living in Ansung and Ansan (Gyeonggi province) were totally 10,038. Among those, 6,873 subjects with no missing values in food frequency questionnaire were included in this analysis. After combining 103 food items into 17 food groups, 4 dietary factors were obtained by factor analysis based on their weights. Factor 1 showed high factor loadings in vegetables, mushrooms, meats, fish, beverages, and oriental-cereals. Factor 2 had high factor loadings in vegetables, fruits, fish, and factor 3 had high factor loadings in cereal-oriental, cerial-western and snacks. Factor 4 showed positive high factor loadings in rice and Kimchi and negative factor loadings in mushrooms and milk and dairy products. Using factor scores of four factors, subjects were classified into 3 clusters by K-means clustering. We named those 'Rice and Kimchi eating' group, 'Contented eating' group, and 'Healthy and light eating' group depending on their eating characteristics. 'Rice and Kimchi eating' group showed high prevalence in men, farmers and 60s. 'Contented eating' group and 'Healthy and light eating' group had high prevalence in women, people living in urban area (Ansan Citizen), with high-school education and above, and a monthly income of one million won and more. 'Contented eating' group appeared lower distribution proportion in the sixties and 'Healthy and light eating' group does higher in the fifties. 'Contented eating' versus 'Rice and Kimchi eating', odds ratio for hypertension, diabetes, metabolic syndrome and obesity significantly decreased after adjusting age and sex (OR=0.64, 0.73, and 0.85 respectively, 95% CI). Although our results were from a cross-sectional study, these imply that the dietary patterns were related to diseases.

• Journal of Preventive Medicine and Public Health
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• 제36권3호
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• pp.213-222
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• 2003

Genomic epidemiology is defined as 'an evoking field of inquiring that uses the systematic application of epidemiologic methods are approaches in population-based studies of the impact of human genetic variation on health and disease (Khoury, 1998)'. Most human diseases are caused by the intricate interaction among environmental exposures and genetic susceptibility factors. Susceptibility genes involved in disease pathogenesis are categorized into two groups: high penetrance genes (i.e., BRAC1, RB, etc.) and lour penetranoe genes (i.e., GSTs, Cyps, XRCC1, ets.), and low penetrance susceptibility genes has the higher priority for epidemiological research due to high population attributable risk. In this paper, the summarized results of the association study between single nucleotide polymorphisms (SNPs) and breast cancer in Korea were introduced and the international trends of genomic epidemiology research were reviewed with an emphasis on internee-based case-control and cohort consortium.

• Journal of Preventive Medicine and Public Health
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• 제36권3호
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• pp.209-212
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• 2003

Because of advances of technologies in the field of genmic epidemiology in the recent years, specimen collection, storage and analysis became an essential part of research methodologies. DNA is now being used in epidemiologic studies to evaluate genetic risk factors and specimens other than the fresh whole blood can De used for PCR. Therefore, All nucleated cells, such as buccal swabs and urine specimens, are suitable for DNA analysis. For an unlimited source of genomic DNA, EBV transformation of lymphocytes can be used for immortalization. However, the type of specimen collected in genomic epidemiologic studies will depend on the study where the epidemiologist play a leading role for the design. We also briefly described various finds of analysis for SNP that is an essential part of the genomic epidemiology.

• The Korean Journal of Pain
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• 제33권2호
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• pp.153-165
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• 2020

Background: Well-validated risk prediction models help to identify individuals at high risk of diseases and suggest preventive measures. A recent systematic review reported lack of validated prediction models for low back pain (LBP). We aimed to develop prediction models to estimate the 8-year risk of developing LBP and its recurrence. Methods: A population based prospective cohort study using data from 435,968 participants in the National Health Insurance Service-National Sample Cohort enrolled from 2002 to 2010. We used Cox proportional hazards models. Results: During median follow-up period of 8.4 years, there were 143,396 (32.9%) first onset LBP cases. The prediction model of first onset consisted of age, sex, income grade, alcohol consumption, physical exercise, body mass index (BMI), total cholesterol, blood pressure, and medical history of diseases. The model of 5-year recurrence risk was comprised of age, sex, income grade, BMI, length of prescription, and medical history of diseases. The Harrell's C-statistic was 0.812 (95% confidence interval [CI], 0.804-0.820) and 0.916 (95% CI, 0.907-0.924) in validation cohorts of LBP onset and recurrence models, respectively. Age, disc degeneration, and sex conferred the highest risk points for onset, whereas age, spondylolisthesis, and disc degeneration conferred the highest risk for recurrence. Conclusions: LBP risk prediction models and simplified risk scores have been developed and validated using data from general medical practice. This study also offers an opportunity for external validation and updating of the models by incorporating other risk predictors in other settings, especially in this era of precision medicine.