• Genomics & Informatics
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• v.9 no.3
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• pp.121-126
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• 2011

Osteoarthritis (OA) is the most common degenerative joint disorder in the elderly population. To identify OA-associated genetic variants and candidate genes, we conducted a genome-wide association study (GWAS). A total 3,793 samples (476 cases: wrist + knee and 3317 controls) from a community-based epidemiological study were genotyped using the Affymetrix SNP 5.0. An intronic SNP (rs4789934) in the TIMP2 (tissue inhibitor of metalloproteinase-2) showed the most significance with OA (odd ratio [OR] = 2.06, 95% confidence interval [CI] = 1.52-2.81, p = $4.01{\times}10^{-6}$). Furthermore, a poly-morphism (rs1352677) in the NKAIN2 ($Na^+/K^+$ transporting ATPase interacting 2) was suggestively associated with OA (OR = 1.43, CI = 1.22-1.66, p = $7.01{\times}10^{-6}$). The present study provides new insights into the identification of genetic predisposing factors for OA.

• Genomics & Informatics
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• v.9 no.2
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• pp.52-58
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• 2011

Osteoporotic fracture (OF), along with bone mineral density (BMD), is an important diagnostic parameter and a clinical predictive risk factor in the assessment of osteoporosis in the elderly population. However, a genome-wide association study (GWAS) on OF has not yet been clarified sufficiently. To identify OF-associated genetic variants and candidate genes, we conducted a GWAS in a population-based cohort (Korean Association Resource [KARE], n=1,427 [case: 288 and control: 1139]) and performed a de novo replication study in hospital-based individuals (Asan and Catholic Medical Center [ACMC], n=1,082 [case: 272 and control: 810]). In a combined meta-analysis, a newly identified genetic locus in an intergenic region at 10p11.2 (near genes FZD8 and ANKRD30A ) showed the most significant association (odd ratio [OR] = 2.00, 95% confidence interval [CI] = 1.47~2.74, p=$1.27{\times}10^{-6}$) in the same direction. We provide the first evidence for a common genetic variant influencing OF and genetic information for further investigation in bone metabolism.

• Health Policy and Management
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• v.7 no.2
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• pp.19-45
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• 1997

This study was performed to evaluate the appropriateness of resource allocation based on the ranking of health center function. Through the Delphi processes, health center functions were ranked in order of importance as follows; planning and research, followed by health education, health promotion, management of chronic diseases, health screening tests, welfare activities, mental health services, medical personnel management, medical services, prevention of communicable diseases, maternal and infant health services, housekeeping, management of oral hygiene, nutrition services, surveillance for community health services, family planning, and administration of the health center. In relation to the above priorities, the allocation of manpower was not appropriate. Even though the expert groups emphasized on functions such as planning and research, health education, and health promotion, they inputted more personnel for administration of a health center, maternal and infant health services, and medical services which were evaluated with lower importance. The budget allocation showed the same trends as the above. Although the functions such as planning and research, health education, and health promotion, and management of chronic diseases were evaluated highly, the budget was allocated accordingo to the the results of the former fiscal year rather than on the importance of function. However the budget for nutrition services, surveillance for the community health services, family planning, and administration of a health center was allocated according to priority. Based upon the above findings, community health center should be given the opportunity to make their own ranking of health center function and to allocate their resources including personnel and budget in order to improve the responsibilities and roles of the community health center.

• Genomics & Informatics
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• v.17 no.4
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• pp.48.1-48.6
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• 2019

Over the last decade, genome-wide association studies (GWASs) have provided an unprecedented amount of genetic variations that are associated with various phenotypes. However, previous GWAS were mostly conducted in European populations, and these biased results for non-Europeans may result in a significant reduction in risk prediction for non-Europeans. An issue with the early GWAS was the winner's curse problem, which led to misleading results when constructing the polygenic risk scores (PRS). Therefore, more non-European population-based studies are needed to validate reported variants and improve genetic risk assessment across diverse populations. In this study, we validated 422 variants independently associated with glycemic indexes, liver enzymes, and type 2 diabetes in 125,872 samples from a Korean population, and further validated the results by assessing publicly available summary statistics from European GWAS (n = 898,130). Among the 422 independently associated variants, 284, 320, and 361 variants were replicated in Koreans, Europeans, and either one of the two populations. In addition, the effect sizes for Koreans and Europeans were moderately correlated (r = 0.33-0.68). However, 61 variants were not replicated in both Koreans and Europeans. Our findings provide valuable information on effect sizes and statistical significance, which is essential to improve the assessment of disease risk using PRS analysis.

• Genomics & Informatics
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• v.14 no.4
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• pp.216-221
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• 2016

Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause acute pain, hospitalization, immobilization, and slow recovery in patients and are associated with increased mortality. A variety of genetic studies have suggested associations of genetic variants with the risk of OF. Genome-wide association studies have reported various single-nucleotide polymorphisms and copy number variations (CNVs) in European and Asian populations. To identify CNV regions associated with OF risk, we conducted a genome-wide CNV study in a Korean population. We performed logistic regression analyses in 1,537 Korean subjects (299 OF cases and 1,238 healthy controls) and identified a total of 8 CNV regions significantly associated with OF (p < 0.05). Then, one CNV region located on chromosome 20q13.12 was selected for experimental validation. The selected CNV region was experimentally validated by quantitative polymerase chain reaction. The CNV region of chromosome 20q13.12 is positioned upstream of a family of long non-coding RNAs, LINC01260. Our findings could provide new information on the genetic factors associated with the risk of OF.

• Genomics & Informatics
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• v.9 no.3
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• pp.127-133
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• 2011

The Epstein-Barr virus-transformed lymphoblastoid cell line (LCL) is one of the major genomic resources for human genetics and immunological studies. Use of LCLs is currently extended to pharmacogenetic studies to investigate variations in human gene expression as well as drug responses between individuals. We evaluated four common internal controls for gene expression analysis of selected hematopoietic transcriptional regulatory genes between B cells and LCLs. In this study, the expression pattern analyses showed that TBP (TATA box-binding protein) is a suitable internal control for normalization, whereas GAPDH (glyceraldehyde-3-phosphate dehydrogenase) is not a good internal control for gene expression analyses of hematopoiesis-related genes between B cells and LCLs at different subculture passages. Using the TBP normalizer, we found significant gene expression changes in selected hematopoietic transcriptional regulatory genes (downregulation of RUNX1, RUNX3, CBFB, TLE1, and NOTCH2 ; upregulation of MSC and PLAGL2) between B cells and LCLs at different passage numbers. These results suggest that these hematopoietic transcriptional regulatory genes are potential cellular targets of EBV infection, contributing to EBV-mediated B-cell transformation and LCL immortalization.

• Health Policy and Management
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• v.15 no.3
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• pp.17-39
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• 2005

Social solidarity, equity in financing, and efficiency in administration have been core issues in the development of Korean health insurance reformation since 1988. This study is to investigate the trend of administrative cost in Korean National Health Insurance from various aspects. For the analysis of administrative cost, the expenditures of each insurance society and the National Health Insurance Corporation are divided into 4 items of (1) insurance benefit, (2) administrative cost, (3) an agency provision accounts, (4) other expenses, and then they are reorganized. The analyses based on 5 types of the health insurance administrative cost showed that efficiency in administration has been improved generally. We, however, should consider qualitative aspects such as customer's satisfaction with health insurance administration, prompt service, control of unjust expenditure (unjust claims), and provision of medical service including health consultation in assessing efficiency of administration. And, in order to connect the administrative costs of health insurance with efficiency, we need to give a fundamentally new definition, which can contain elaborateness of expenditure in details including the structure and evaluation method of administrative costs. It may be necessary to develop new indicators or analyzing methods hereafter.

• Journal of Preventive Medicine and Public Health
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• v.31 no.4 s.63
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• pp.857-874
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• 1998

The objective of this study is to collect the opinions on the present condition and the improvement directions of urban health centers from and to make a comparison. Samples were drawn from the various sources of a district in seoul. 53 persons involved in district health's administration(the Members of a District Parliament, the senior officials of a District office, village chief) and 84 health center workers were surveyed with anonymous postal questionaires and 427 district private medical personnels with postal questionaires and 625 users of a health center with direct questionaires, from November 18 to 25, 1996. Additionally, 12,151 households were surveyed with self-reported questionaires including priorities on special district health services of health center, from September 1 to 7, 1996. The major findings were as follows : 1) Although the persons involved in district health administration tend to put lower priority on health service over other community activities, they well acknowledged the importance of health center. But health center workers strongly acknowledged the importance of both health service and heath center. 2) As to the level of human resoureces, equipments and ammenities of Health Center commpared with private medical institute, the persons involved in district health's administration and health center workers responded that health center was higher in following order : 54.9%, 41.6%, 36.5% and 88.0%, 80.7%, 44.1%. 3) Concerning the priorities of health center's improvement, the persons involved in district health's administration replied in the order of reinforcement of proffesional health workers (43.3%), improvement of equipments and ammenities(28.3%), and the health center workers replied in the order of reconstruction of organization(24.1%), public health education and promotion(22.8%), reinforcement of proffesional health workers(21.0%). 4) Both the persons involved in district health's administration and health center workers replied that Ministry Health and Welfare, District office, health center were essential as the most critical organizations in the activation of Health Center's Function. 5) Persons involved in district health's administration and health center workers chose, as the most important health center's Function, medical treatment and prevention of infectious disease, and prevention of acute and chrone disease control and special district health service, respectively. Both Groups replied that fammily planning and parasite control are no longer in need. 6) As the future health service requiring reinforcement, every human resources parties considered health conselling, health line, sex education as the most imortant elements in public health education. Concerning the reinforement of other health services such as medical checkup and visiting nurses, every human resources parties showed more than 80% approval rate, but for oriental medical care service, the private medical personels showed relatively low approval rate(52.9%). Therefore the planning for reinforcement of health center's function requires the reflection of human resources party's opinion and the implication of system which can control and combine the differences in party's opinions.

• Genomics & Informatics
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• v.9 no.3
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• pp.114-120
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• 2011

Chronic inflammation has been implicated as one of the important etiological factors in insulin resistance and type 2 diabetes mellitus (T2DM). To investigate the role of anti-inflammatory cytokines in the development of T2DM, we conducted a case-control study to assess the association between IL4/IL4R polymorphisms and disease risk. We firstly identified single nucleotide poly-morphisms (SNP) at IL4 and IL4RA loci by sequencing the loci in Korean participants. Case-control studies were conducted by genotyping the SNPs in 474 T2DM cases and 470 non-diabetic controls recruited from community-based cohorts. Replication of the associated signals was performed in 1,216 cases and 1,352 controls. We assessed effect of IL4 -IL4RA interaction on T2DM using logistic regression method. The functional relevance of the SNP associated with disease risk was determined using a reporter expression assay. We identified a strong association between the IL4 promoter variant rs2243250 and T2DM risk (OR=0.77; 95% CI, 0.67~0.88; p=$1.65{\times}10^{－4}$ in the meta-analysis). The reporter gene expression assay demonstrated that the presence of rs2243250 might affect the gene expression level with ~1.5-fold allele difference. Our findings contribute to the identification of IL4 as a T2D susceptibility locus, further supporting the role of anti-inflammatory cytokines in T2DM disease development.

• Natural Product Sciences
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• v.28 no.4
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• pp.168-180
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• 2022

Ephedra is a genus of the Ephedraceae family and is found in temperate regions, such as Central Asia and Europe. Among the various ephedra species, Ma Huang (Ephedra herb) is derived from the aerial parts of Ephedra sinica S tapf, Ephedra equisetina Bunge, and Ephedra intermedia Schrenk & C.A. Mey. Ma Huang contains various ephedra alkaloids, including (-)-ephedrine, (+)-pseudoephedrine, (-)-norephedrine, (+)-norpseudoephedrine, (-)-methylephedrine, and (+)-methylpseudoephedrine, which are found naturally as single enantiomers, although they can be prepared as racemates. Although the use of Ma Huang in foods is prohibited in Korea, products containing Ma Huang can be imported, and so it is necessary to develop a suitable analytical technique for the detection of Ma Huang in foods. Herein, we report the development of analytical methods for the detection of ephedra alkaloids in products containing Ma Huang. Following sample purification by solid phase extraction, quantitative analysis was performed using ultra-performance liquid chromatography-triple quadrupole mass spectrometry (UPLC-MS/MS). Additionally, the enantiomers were successfully separated using HPLC-DAD. We successfully analyzed various food samples, where the ephedra alkaloids were qualitatively and quantitatively determined, and the enantiomers were separated. It is expected that these methods may contribute toward preventing the distribution of illegal products containing Ma Huang.