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The Uric Acid and Gout have No Direct Causality With Osteoarthritis: A Mendelian Randomization Study

Lee YH, Song GG

OBJECTIVE: To examine whether uric acid level or gout is causally associated with the risk of osteoarthritis. METHODS: We performed a two-sample Mendelian randomization (MR) analysis using inverse-variance weighted (IVW), MR-Egger...
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Matrix Metallopeptidase 3 Polymorphisms: Emerging genetic Markers in Human Breast Cancer Metastasis

Suhaimi SA, Chan SC, Rosli R

Matrix metallopeptidase 3 or MMP3, is a zinc-dependent proteolytic enzyme that is involved in various physiological processes via modification of the extracellular matrix. In particular, its over-expression has been associated...
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Genetic Architecture of Circulating Very-Long-Chain (C24:0 and C22:0) Ceramide Concentrations

Cresci S, Zhang R, Yang Q, Duncan MS, Xanthakis , Jiang X, Vasan RS, Schaffer J, Peterson L

OBJECTIVE: Total ceramide concentrations are linked with increased insulin resistance and cardiac dysfunction. However, recent studies have demonstrated that plasma concentrations of specific very-long-chain fatty ceramides (C24:0 and C22:0) are...
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Recapitulation of previously reported associations for type 2 diabetes and metabolic traits in the 126K East Asians

Choi JY, Jang HM, Han S, Hwang MY, Kim BJ, Kim YJ

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...
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Pure additive contribution of genetic variants to a risk prediction model using propensity score matching: application to type 2 diabetes

Park C, Jiang N, Park T

The achievements of genome-wide association studies have suggested ways to predict diseases, such as type 2 diabetes (T2D), using single-nucleotide polymorphisms (SNPs). Most T2D risk prediction models have used SNPs...
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Association of circulating 25-hydroxyvitamin D levels with hypertension and blood pressure values in Korean adults: A Mendelian randomization study on a subset of the Korea National Health and Nutrition Survey 2011–2012 population

Kwak SY, Cho Y, Oh H, Shin MJ

BACKGROUND/OBJECTIVES: Lower circulating 25-hydroxyvitamin D [25(OH)D] levels are associated with a higher risk of hypertension (HTN); however, it remains unclear whether the relationship is causal. We aimed to evaluate the...
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Clinical Variables and Genetic Risk Factors Associated with the Acute Outcome of Ischemic Stroke: A Systematic Review

Torres-Aguila NP, Carrera C, Muiño E, Cullell N, Cárcel-Márquez J, Gallego-Fabrega C, González-Sánchez J, Bustamante A, Delgado P, Ibañez L, Heitsch L, Krupinski , Montaner J, Martí-Fàbregas J, Cruchaga C, Lee JM, Fernandez-Cadenas I, Acute Endophenotypes Group of the International Stroke Genetics Consortium (ISGC)

Stroke is a complex disease and one of the main causes of morbidity and mortality among the adult population. A huge variety of factors is known to influence patient outcome,...
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In silico approach to calculate the transcript capacity

Lee YS, Won KH, Oh JD, Shin D

We sought the novel concept, transcript capacity (TC) and analyzed TC. Our approach to estimate TC was through an in silico method. TC refers to the capacity that a transcript...
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Analysis of differences in human leukocyte antigen between the two Wellcome Trust Case Control Consortium control datasets

Jang CS, Choi W, Cook S, Han B

The Wellcome Trust Case Control Consortium (WTCCC) study was a large genome-wide association study that aimed to identify common variants associated with seven diseases. That study combined two control datasets...
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Genetic aspects of type 1 diabetes

Lee HS, Hwang JS

Type 1 diabetes mellitus (T1DM) is characterized by autoimmune destruction of pancreatic beta-cells in genetically predisposed individuals, eventually resulting in severe insulin deficiency. It is the most common form of...
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Genetically Mediated Lipid Metabolism and Risk of Insulin Resistance: Insights from Mendelian Randomization Studies

Bu SY

Dysregulated lipid metabolism, characterized by higher levels of circulating triglycerides, higher levels of small, low density lipoprotein, and accumulation of intracellular lipids, is linked to insulin resistance and related complications...
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Genome Engineering for Osteoarthritis: From Designer Cells to Disease-Modifying Drugs

Choi YR, Collins KH, Lee JW, Kang HJ, Guilak F

BACKGROUND: Osteoarthritis (OA) is a highly prevalent degenerative joint disease involving joint cartilage and its surrounding tissues. OA is the leading cause of pain and disability worldwide. At present, there...
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Associations among Genetic Variants and Intracranial Aneurysm in a Chinese Population

Li B, Hu C, Liu J, Liao X, Xun J, Xiao M, Yan J

PURPOSE: Genome-wide association studies (GWAS) have revealed that common variants on or near EDNRA, HDAC9, SOX17, RP1, CDKN2B-AS1, and RBBP8 genes are associated with intracranial aneurysm (IA) in European or...
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Genome-Wide Association of Genetic Variation in the PSCA Gene with Gastric Cancer Susceptibility in a Korean Population

Park B, Yang S, Lee J, Woo HD, Choi IJ, Kim YW, Ryu KW, Kim YI, Kim J

PURPOSE: Half of the world's gastric cancer cases and the highest gastric cancer mortality rates are observed in Eastern Asia. Although several genome-wide association studies (GWASs) have revealed susceptibility genes...
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Causal Association between Rheumatoid Arthritis with the Increased Risk of Type 2 Diabetes: A Mendelian Randomization Analysis

Lee YH, Song GG

OBJECTIVE: This study aimed to examine whether rheumatoid arthritis (RA) is causally associated with type 2 diabetes (T2D). METHODS: We performed a two-sample Mendelian randomization (MR) analysis using the inverse-variance weighted...
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Causal Association between Bone Mineral Density and Osteoarthritis: A Mendelian Randomization Study

Song GG, Lee YH

OBJECTIVE: To examine whether bone mineral density (BMD) is causally associated with osteoarthritis (OA). METHODS: We performed a two-sample Mendelian randomization (MR) analysis using the inverse-variance weighting (IVW), weighted median, and...
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Genetic regulation of linear growth

Yue S, Whalen P, Jee YH

Linear growth occurs at the growth plate. Therefore, genetic defects that interfere with the normal function of the growth plate can cause linear growth disorders. Many genetic causes of growth...
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Lessons Learned From GWAS of Asthma

Kim KW, Ober C

Asthma is a common complex disease of the airways. Genome-wide association studies (GWASs) of asthma have identified many risk alleles and loci that have been replicated in worldwide populations. Although...
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Genome-wide association study of degenerative mitral valve disease in Maltese dogs

Lee CM, Song DW, Ro WB, Kang MH, Park HM

Genome-wide association study (GWAS) is a powerful tool for identifying the genetic causes of various diseases. This study was conducted to identify genomic variation in Maltese dog genomes associated with...
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Assessment of the Clinical Heterogeneity of Kawasaki Disease Using Genetic Variants of BLK and FCGR2A

Sim BK, Park H, Kim JJ, Yun SW, Yu JJ, Yoon KL, Lee KY, Kil HR, Kim GB, Han MK, Song MS, Lee HD, Ha KS, Sohn S, Hong YM, Jang GY, Lee JK, on behalf of the Korean Kawasaki Disease Genetics Consortium

BACKGROUND AND OBJECTIVES: Patients with Kawasaki disease (KD) are clinically heterogeneous because its diagnosis is based solely on clinical observation and there are no definitive biomarkers. We dissected the clinical...
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