• Genomics & Informatics
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• v.8 no.3
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• pp.101-102
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• 2010

During the last decade, large community cohorts have been established by the Korea National Institutes of Health (KNIH), and enormous epidemiological and clinical data have been accumulated. Using these information and samples in the cohorts, KNIH set out to do a large-scale genome-wide association study (GWAS) in 2007, and the Korea Association REsource (KARE) consortium was launched to analyze the data to identify the underlying genetic risk factors of diseases and diverse health indexes, such as blood pressure, obesity, bone density, and blood biochemical traits. The consortium consisted of 6 research divisions, formed by 25 principal investigators in 19 organizations, including 18 universities, 2 institutes, and 1 company. Each division focused on one of the following subjects: the identification of genetic factors, the statistical analysis of gene-gene interactions, the genetic epidemiology of gene-environment interactions, copy number variation, the bioinformatics related to a GWAS, and a GWAS of nutrigenomics. In this special issue, the study results of the KARE consortium are provided as 9 articles. We hope that this special issue might encourage the genomics community to share data and scientists, including clinicians, to analyze the valuable Korean data of KARE.

• Genomics & Informatics
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• v.12 no.4
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• pp.216-224
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• 2014

Gastritis is a common but a serious disease with a potential risk of developing carcinoma. Helicobacter pylori infection is reported as the most common cause of gastritis, but other genetic and genomic factors exist, especially single-nucleotide polymorphisms (SNPs). Association studies between SNPs and gastritis disease are important, but results on epistatic interactions from multiple SNPs are rarely found in previous genome-wide association (GWA) studies. In this study, we performed computational GWA case-control studies for gastritis in Korea Associated Resource (KARE) data. By transforming the resulting SNP epistasis network into a gene-gene epistasis network, we also identified potential gene-gene interaction factors that affect the susceptibility to gastritis.

• Broadcasting and Media Magazine
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• v.27 no.1
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• pp.38-48
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• 2022

해마다 정신 질환의 발병률은 높아지지만, 이를 위한 진단과 치료의 한계는 현재까지도 해결되지 않고 있다. 디지털 치료제(DTx)는 이러한 한계를 극복할 수 있는 새로운 해결법으로 화두되고 있다. 본 연구는 객관적인 ADHD 진단을 위한 Hippo T&C의 디지털 치료 솔루션인 AttnKare-D를 제안한다. AttnKare-D는 정신 질환의 진단 및 통계 편람(DSM-5)에 따라 통제된 환경에서 데이터를 정량화함으로써 진단을 객관화한다. 또한, ADHD의 세부적 증상에 대한 상세한 보고서를 만듦으로써, 넓은 분류보다는 특정한 증상들에 집중하여 치료를 개인화한다. 적절한 샘플 사이즈에 낮은 오류율을 보이므로 임상 환경에서 AttnKare-D는 긍정적인 가능성을 보여준다.

• Genomics & Informatics
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• v.12 no.3
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• pp.114-120
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• 2014

Bone mineral density (BMD) is one of the quantitative traits that are genetically inherited and affected by various factors. Over the past years, genome-wide association studies (GWASs) have searched for many genetic loci that influence BMD. A recent meta-analysis of 17 GWASs for BMD of the femoral neck and lumbar spine is the largest GWAS for BMD to date and offers 64 single-nucleotide polymorphisms (SNPs) in 56 associated loci. We investigated these BMD loci in a Korean population called Korea Association REsource (KARE) to identify their validity in an independent study. The KARE population contains genotypes from 8,842 individuals, and their BMD levels were measured at the distal radius (BMD-RT) and midshaft tibia (BMD-TT). Thirteen genomic loci among 56 loci were significantly associated with BMD variations, and 3 loci were involved in known biological pathways related to BMD. In order to find putative functional variants, nearby SNPs in relation to linkage equilibrium were annotated, and their possible functional effects were predicted. These findings reveal that tens of variants, not a single factor, may contribute to the genetic architecture of BMD; have an important role regardless of ethnic group; and may highlight the importance of a replication study in GWASs to validate genuine loci for BMD variation.

• BMB Reports
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• v.45 no.1
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• pp.47-50
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• 2012

The International HapMap Project and the Human Genome Diversity Project (HGDP) provide plentiful resources on human genome information to the public. However, this kind of information is limited because of the small sample size in both databases. A Genome-Wide Association Study has been conducted with 8,842 Korean subjects as a part of the Korea Association Resource (KARE) project. In an effort to build a publicly available browsing system for genome data resulted from large scale KARE GWAS, we developed the KARE browser. This browser provides users with a large amount of single nucleotide polymorphisms (SNPs) information comprising 1.5 million SNPs from population-based cohorts of 8,842 samples. KAREBrowser was based on the generic genome browser (GBrowse), a web-based application tool developed for users to navigate and visualize the genomic features and annotations in an interactive manner. All SNP information and related functions are available at the web site http://ksnp.cdc. go.kr/karebrowser/.

• Genomics & Informatics
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• v.10 no.2
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• pp.106-109
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• 2012

Pulse rate is known to be related to diverse phenotypes, such as cardiovascular diseases, lifespan, arrhythmia, hypertension, lipids, diabetes, and menopause. We have reported two genomewide significant genetic loci responsible for the variation in pulse rate as a part of the Korea Association Resource (KARE) project, the genomewide association study (GWAS) that was conducted with 352,228 single nucleoride polymorphisms typed in 8,842 subjects in the Korean population. GJA1 was implied as a functionally causal gene for pulse rate from the KARE study, but lacked evidence of replication. To re-evaluate the association of a locus near GJA1 with pulse rate, we looked up this signal in another GWAS conducted in a Health Examinee-shared cohort of 3,703 samples. Not only we were able to confirm two pulse rate loci (1q32.2a near CD46 and 6q22.13c near LOCL644502) identified in the KARE GWAS, we also replicated a locus (6q22.31c) near GJA1 by the lookup in the Health Examinee GWAS. Considering that the GJA1-encoded protein is a major component of cardiac gap junctions, a functional study might be necessary to validate its genuine molecular biological role in the synchronized contraction of the heart.

• Korean Journal of Clinical Laboratory Science
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• v.56 no.1
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• pp.66-72
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• 2024

Lipid metabolic disorders are commonly encountered in clinical practice. Dyslipidemia and its prevalence rate are strongly associated with the morbidity and mortality of cardiovascular disease worldwide. We conducted a genetic analysis to determine the association between genetic polymorphisms of the ABO gene in adults middle-aged (40~69 years) with dyslipidemia in the Korean population. A total of 6,750 subjects from the Korea Association REsource (KARE) were selected for this study. Using the genetic and epidemiologic data of 4,403 dyslipidemia cases and 2,347 normal controls from the KARE, single nucleotide polymorphisms (SNPs) in ABO gene were analyzed for their genetic correlation. Eleven SNPs out of the ABO gene demonstrated a statistically significant association with dyslipidemia. Among them, rs8176707 in ABO gene statistically showed the most significant correlation with dyslipidemia (P-value=0.002, odds ratio=0.82, 95% confidence interval=0.78~0.86). The minor allele of T polymorphism within the ABO intron genetic region was associated with a decreased risk of dyslipidemia. This study uncovered a significant association between genetic polymorphism in the ABO gene and dyslipidemia. This finding suggest that ABO SNPs markers have a genetic correlation with the etiology of dyslipidemia.

• BMB Reports
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• v.44 no.9
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• pp.578-583
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• 2011

Aspartate aminotransferase (AST) and alanine aminotransferase (ALT) are biochemical markers used to test for liver diseases. Copy number variation (CNV) plays an important role in determining complex traits and is an emerging area in the study various diseases. We performed a genome-wide association study with liver function biomarkers AST and ALT in 407 unrelated Koreans. We assayed the genome-wide variations on an Affymetrix Genome-Wide 6.0 array, and CNVs were analyzed using HelixTree. Using single linear regression, 32 and 42 CNVs showed significance for AST and ALT, respectively (P value < 0.05). We compared CNV-based genes between the current study (KARE2; AST-140, ALT-172) and KARE1 (AST-1885, ALT-773) using NetBox. Results showed 9 genes (CIDEB, DFFA, PSMA3, PSMC5, PSMC6, PSMD12, PSMF1, SDC4, and SIAH1) were overlapped for AST, but no overlapped genes were found for ALT. Functional gene annotation analysis shown the proteasome pathway, Wnt signaling pathway, programmed cell death, and protein binding.

• Genomics & Informatics
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• v.20 no.2
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• pp.16.1-16.12
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• 2022

Various methodologies for the genetic analysis of longitudinal data have been proposed and applied to data from large-scale genome-wide association studies (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with traits of interest and to detect SNP-time interactions. We recently proposed a grid-based Bayesian mixed model for longitudinal genetic data and showed that our Bayesian method increased the statistical power compared to the corresponding univariate method and well detected SNP-time interactions. In this paper, we further analyze longitudinal obesity-related traits such as body mass index, hip circumference, waist circumference, and waist-hip ratio from Korea Association Resource data to evaluate the proposed Bayesian method. We first conducted GWAS analyses of cross-sectional traits and combined the results of GWAS analyses through a meta-analysis based on a trajectory model and a random-effects model. We then applied our Bayesian method to a subset of SNPs selected by meta-analysis to further discover SNPs associated with traits of interest and SNP-time interactions. The proposed Bayesian method identified several novel SNPs associated with longitudinal obesity-related traits, and almost 25% of the identified SNPs had significant p-values for SNP-time interactions.

• Journal of the Korean Society of Food Culture
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• v.5 no.1
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• pp.107-111
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• 1990

During the Chosun dynasty there were royal proprieties of tea ritual mainly for the purpose of serving envoys from neighboring countries and offering of a new product to the Deity. There were Buddhist proprieties of tea ritual representing religious ideals of each sect of Buddhism. And Confucian tea rituals were performed in accordance with the book entitled Kare (a family code of decorum) written by Chuja. Besides these there, were Taoist proprieties of the ritual.