• Genomics & Informatics
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• 제6권1호
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• pp.14-17
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• 2008

GENDISCAN study (Gene Discovery for Complex traits in Asian population of Northeast area) was designed to incorporate methodologies which enhance the power to identify genetic variations underlying complex disorders. Use of population isolates as the target population is a unique feather of this study. However, population isolates may have hidden inbreeding structures which can affect the validity of the study. To understand how this issue may affect results of GENDISCAN, we estimated inbreeding coefficients in two study populations in Mongolia. We analyzed the status of Hardy-Weinberg Equilibrium (HWE), polymorphism information contents (PIC), heterozygosity, allelic diversity, and inbreeding coefficients, using 317 and 1,044 STR (short tandem repeat) markers in Orkhontuul and Dashbalbar populations. HWE assumptions were generally met in most markers (88.6% and 94.2% respectively), and single marker PIC ranged between 0.2 and 0.9. Inbreeding coefficients were estimated to be 0.0023 and 0.0021, which are small enough to assure that conventional genetic analysis would work without any specific modification. We concluded that the population isolates used in GENDISCAN study would not present significant inflation of type I errors from inbreeding effects in its gene discovery analysis.

• Asian Pacific Journal of Cancer Prevention
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• 제16권4호
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• pp.1591-1597
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• 2015

Background: Korea has experienced rapid economic development in a very short period of time. A mixture of traditional and modern risk factors coexists and the rapid change in non-genetic factors interacts with genetic constituents. With consideration of these unique aspects of Korean society, a large-scale genomic cohort study-the Health Examinees (HEXA) Study-has been conducted to investigate epidemiologic characteristics, genomic features, and gene-environment interactions of major chronic diseases including cancer in the Korean population. Materials and Methods: Following a standardized study protocol, the subjects were prospectively recruited from 38 health examination centers and training hospitals throughout the country. An interview-based questionnaire survey was conducted to collect information on socio-demographic characteristics, medical history, medication usage, family history, lifestyle factors, diet, physical activity, and reproductive factors for women. Various biological specimens (i.e., plasma, serum, buffy coat, blood cells, genomic DNA, and urine) were collected for biorepository according to the standardized protocol. Skilled medical staff also performed physical examinations. Results: Between 2004 and 2013, a total of 167,169 subjects aged 40-69 years were recruited for the HEXA study. Participants are being followed up utilizing active and passive methods. The first wave of active follow-up began in 2012 and it will be continued until 2015. The principal purpose of passive follow-up is based on data linkages with the National Death Certificate, the National Cancer Registry, and the National Health Insurance Claim data. Conclusions: The HEXA study will render an opportunity to investigate biomarkers of early health index and the chronological changes associated with chronic diseases.

• Journal of Preventive Medicine and Public Health
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• 제40권2호
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• pp.95-101
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• 2007

Focusing on complex diseases of public health significance, strategic issues regarding the on-going Korean Genome Cohort were reviewed: target size and diseases, measurements, study design issues, and follow-up strategy of the cohort. Considering the epidemiologic characteristics of Korean population as well as strengths and drawbacks of current research environment, we tried to tailor the experience of other existing cohorts into proposals for this Korean study. Currently 100,000 individuals have been participating the new Genome Cohort in Korea. Target size of de novo collection is recommended to be set as between 300,000 to 500,000. This target size would allow acceptable power to detect genetic and environmental factors of moderate effect size and possible interactions between them. Family units and/or special subgroups are recommended to parallel main body of adult individuals to increase the overall efficiency of the study. Given that response rate to the conventional re-contact method may not be satisfactory, successful follow-up is the main key to the achievement of the Korean Genome Cohort. Access to the central database such as National Health Insurance data can provide enormous potential for near-complete case detection. Efforts to build consensus amongst scientists from broad fields and stakeholders are crucial to unleash the centralized database as well as to refine the commitment of this national project.

• 대한의생명과학회지
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• 제24권4호
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• pp.334-340
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• 2018

The cytoplasmic elicitor, nucleotide-binding domain and leucine-rich repeat containing domain receptors (NLRs) is well established molecules in its role in inflammatory response. Among 22 NLR receptors, NOD2 is one of the intensively studied genes of elucidating for the inflammatory bowel disease and Crohn's disease as well. Recent research have accumulated that common genetic mutations in Parkinson's disease (PD) are increasingly related to the susceptibility to Crohn's disease. In this study, with the Korean Genome and Epidemiology Study, we aimed to perform the association between NOD2 polymorphisms and blood cell counts [WBC (white blood cell) count, RBC (red blood cell) count, platelet count], which linked supposedly to cytoplasmic inflammatory responses with clinical specialty. Linear regression analyses were performed, controlling for residential area, sex, and age as covariates. As a results, 12 SNPs from NOD2 gene were significantly associated with WBC counts (Bonferroni correction P-value criteria < 0.05/23=0.00218). In this study, we could ensure an association with NOD2 gene and WBC counts. This is the first report to have relationship between SNPs of NOD2 gene and WBC counts.

• Journal of Dairy Science and Biotechnology
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• 제38권4호
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• pp.169-188
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• 2020

Salmonella spp. is the most common cause of gastrointestinal food poisoning worldwide, and human salmonellosis is mostly caused by the consumption of contaminated food. Therefore, the development of rapid detection methods for Salmoenlla spp. and rapid identification of the source of infection by subtyping are important for the surveillance and monitoring of food-borne salmonellosis. Therefore, this review introduces (1) History and nomenclature of Salmoenlla spp., (2) Epidemiology of Salmoenlla spp., (3) Detection methods for Salmoenlla spp. - conventional culture method, genetic detection method, molecular detection methods, and aptamer, and (4) Subtyping methods for Salmoenlla spp. - pulsed-field gel electrophoresis and repetitive sequence-based polymerase chain reaction (PCR).

• 대한의생명과학회지
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• 제28권4호
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• pp.284-289
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• 2022

Hypertension is associated with cardiovascular disease. The environmental and genetic factors can cause the development of hypertension. In this study, the relationship between hypertension and family history of hypertension in Koreans was analyzed in consideration of serum fasting blood glucose levels and age. The study subjects were 2,484 subjects who had a medical examination at a university hospital. The main statistical analysis method was multiple logistic regression analysis. Hypertension prevalence was 16.4% of all subjects, and subjects with a family history of hypertension were 23.5%. The risk of hypertension was 2.36 times higher in subjects with a family history of hypertension than subjects without a family history of hypertension. In addition, in the subjects with fasting blood glucose levels more than 120 mg/dL, the risk of hypertension was 4.44 times higher in subjects with a family history of hypertension compared with subjects without a family history of hypertension. The relationship between family history and hypertension was slightly higher in the older group than in the younger group. To assess the association between hypertension and family history, further cohort study is necessary in the future.

• Asian Pacific Journal of Cancer Prevention
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• 제15권24호
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• pp.10675-10681
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• 2015

Background: The ataxia telangiectasia mutated (ATM) protein and p53 play key roles in sensing and repairing radiation-induced DNA double strand breaks (DSBs). Accumulating epidemiological evidence indicates that functional genetic variants in ATM and TP53 genes may have an impact on the risk of radiotherapy-induced side effects. Here we performed a meta-analysis to investigate the potential interaction between ATM Asp1853Asn and TP53 polymorphisms and risk of radiotherapy-induced adverse effects quantitatively. Materials and Methods: Relevant articles were retrieved from PubMed, ISI Web of Science and the China National Knowledge Infrastructure (CNKI) databases. Eligible studies were selected according to specific inclusion and exclusion criteria. Odds ratios (ORs) and 95% confidence intervals (CIs) were pooled to estimate the association between ATM Asp1853Asn and TP53 Arg72Pro polymorphisms and risk of radiotherapy adverse effects. All analyses were performed using the Stata software. Results: A total of twenty articles were included in the present analysis. In the overall analysis, no significant associations between ATM Asp1853Asn and TP53 Arg72Pro polymorphisms and the risk of radiotherapy adverse effects were found. We conducted subgroup analysis stratified by type of cancer, region and time of appearance of side effects subsequently. No significant association between ATM Asp1853Asn and risk of radiotherapy adverse effects was found in any subgroup analysis. For TP53 Arg72Pro, variant C allele was associated with decreased radiotherapy adverse effects risk among Asian cancer patients in the stratified analysis by region (OR=0.71, 95%CI: 0.54-0.93, p=0.012). No significant results were found in the subgroup analysis of tumor type and time of appearance of side effects. Conclusions: The TP53 Arg72Pro C allele might be a protective factor of radiotherapy-induced adverse effects among cancer patients from Asia. Further studies that take into consideration treatment-related factors and patient lifestyle including environmental exposures are warranted.

• Asian Pacific Journal of Cancer Prevention
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• 제13권9호
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• pp.4725-4732
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• 2012

Aim: The incidence of stomach cancer in Mizoram is highest in India. We have conducted a population based matched case-control study to identify environmental and genetic risk factors in this geographical area. Methods: A total of 102 histologically confirmed stomach cancer cases and 204 matched healthy population controls were recruited. GSTM1 and GSTT1 genotypes were determined by PCR and H. pylori infections were determined by ELISA. Results: Tobacco-smoking was found to be an important risk factor for high incidence of stomach cancer in Mizoram. Meiziol (local cigarette) smoking was a more important risk factor than other tobacco related habits. Cigarette, tuibur (tobacco smoke infused water) and betel nut consumption synergistically increased the risk of stomach cancer. Polymorphisms of GSTM1 and GSTT1 genes were not found to be directly associated with stomach cancer in Mizoram. However, they appeared to be effect modifiers. Persons habituated with tobacco smoking and/or tuibur habit had increased risk of stomach cancer if they carried the GSTM1 null genotype and GSTT1 non-null genotype. Conclusion: Tobacco smoking, especially meiziol is the important risk factor for stomach cancer in Mizoram. GSTM1 and GSTT1 genes modify the effect of tobacco habits. This study is a first step in understanding the epidemiology of stomach cancer in Mizoram, India.

• Asian Pacific Journal of Cancer Prevention
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• 제14권10호
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• pp.6035-6040
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• 2013

Background: Cancer is a complex disease caused by multiple factors, both genetic and environmental. It is a major health concern worldwide, in the Middle East and in Jordan specifically and the fourth most common killer in the Middle East. Hypothesis: The relative genetic homogeneity of the Circassian and Chechan populations in Jordan results in incidences of cancer that differ from the general Jordanian population, who are mostly Arabs. Materials and Methods: National Cancer Registry data were obtained for the years 1996-2005 The Chechen and Circassian cancer cases were identified and cancer registry data were divided into three populations. Crude rates were calculated based on the number of cancer cases and estimated populations. Results: Breast cancer is the most common cancer type constituting about one third of female cancers in all three populations. Higher crude rates are observed in the Circassian and Chechen populations than in the Arab Jordanian population. The rate ratios (95%CI) in Circassians and Chechens with respect to the Arab Jordanian population are 2.1 (1.48, 2.72) and 1.81 (1.16, 2.85), respectively. Lung cancer is the most common cancer in male Arab Jordanians and Chechens with crude rates of 4.2 and 8.0 per 100,000 respectively. The male to female ratio in these two populations in respective order are 5:1 and 7:1. The lung cancer crude rate in Circassians is 6.5 per 100,000 with a male to female ratio of only 1.6:1. The colorectal cancer crude rates in Arab Jordanians and Chechens are similar at 6.2 and 6.0 per 100,000, respectively, while that in Circassians is twice as high. Conclusions: Considerable ethnic variation exists for cancer incidence rates in Jordan. The included inbred and selected populations offer an ideal situation for investigating genetic factors involved in various cancer types.

• Journal of Microbiology and Biotechnology
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• 제15권3호
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• pp.502-509
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• 2005

Sexual reproduction plays an important role in the biology and epidemiology of oomycete plant pathogens such as the heterothallic species Phytophthora infestans. Recent worldwide dispersal of A2 mating type strains of P. infestans resulted in increased virulence, gene transfer, and genetic variation, creating new challenges for disease management. To develop a genetic assay for mating type identification in P. infestans, we used the Amplified Fragment Length Polymorphism (AFLP) technique. The primer combination E+AT/M+CTA detected a fragment specific to A1 mating type (Mat-A1) of P. infestans. This fragment was cloned and sequenced, and a pair of primers (INF-1, INF-2) were designed and used to differentiate P. infestans Mat-A1 from Mat-A2 strains. The Mat A1-specific fragment was detected using Southern blot analysis of PCR products amplified with primers INF-1 and INF-2 from genomic DNA of 14 P. infestans Mat-A1 strains, but not 13 P. infestans Mat-A2 strains or 8 other isolates representing several Phytophthora spp. Southern blot analysis of genomic DNAs of P. infestans isolates revealed a 1.6 kb restriction enzyme (EcoRI, BamHI, AvaI)-fragment only in Mat-A1 strains. The A1 mating type-specific primers amplified a unique band under stringent annealing temperatures of $63^{\circ}C-64^{\circ}C$, suggesting that this PCR assay could be developed into a useful method for mating type determination of P. infestans in field material.