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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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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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A Case of Donor Cell Leukemia after Allogenic Peripheral Blood Stem Cell Transplantation for Acute Promyelocytic Leukemia with PML-RARA

Shin WY, Bang HI, Kim J, Kim KH, Won JH, Park R

Donor cell leukemia (DCL), a rare but fatal complication arising from allogenic stem cell transplantation, is a complex disease associated with multiple pathophysiological processes. Specific diagnosis of DCL distinct from...
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Epigenetic Changes in Asthma: Role of DNA CpG Methylation

Bae DJ, Jun JA, Chang HS, Park JS, Park CS

For the past three decades, more than a thousand of genetic studies have been performed to find out the genetic variants responsible for the risk of asthma. Until now, all...
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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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Analysis of unmapped regions associated with long deletions in Korean whole genome sequences based on short read data

Lee Y, Park K, Koh I

While studies aimed at detecting and analyzing indels or single nucleotide polymorphisms within human genomic sequences have been actively conducted, studies on detecting long insertions/deletions are not easy to orchestrate....
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C-Reactive Protein Gene Variants in Depressive Symptoms & Antidepressants Efficacy

Li X, Sun N, Yang C, Liu Z, Li X, Zhang K

OBJECTIVE: Although the pathogenesis of depression remains unclear, C-reactive protein (CRP) levels are commonly elevated in depressed patients. Thus, CRP single-nucleotide polymorphisms (SNPs) that influence CRP levels may be associated...
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Comparison of Effective DNA Extraction method for Molecular biological study of Mycobacterium leprae

Kim YJ, Park JH, Kim JP

BACKGROUND: Leprosy is an important health problem in many geographical areas yet. It is caused through a cough or contact with fluid from the nose of a person infected by...
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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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Complementary Participation of Genetics and Epigenetics in Development of NSAID-exacerbated Respiratory Disease

Lee JU, Park JS, Chang HS, Park CS

Nonsteroidal anti-inflammatory drug (NSAID)-exacerbated respiratory disease (NERD) has attracted a great deal of attention because of its association with severe asthma. However, it remains widely underdiagnosed in asthmatics as well...
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NR3C1 Polymorphisms for Genetic Susceptibility to Schizophrenia

Park JS, Lee SM, Kim JW, Kang WS

OBJECTIVES: Psychological stress has been known to increase the risk of schizophrenia. Because stress responses are mainly mediated by cortisol, the action of the glucocorticoid receptors (Nuclear Receptor Subfamily 3...
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Analysis of vitamin D-binding protein (VDBP) gene polymorphisms in Korean women with and without endometriosis

Cho MC, Kim JH, Jung MH, Cho IA, Jo HC, Shin JK, Lee SA, Choi WJ, Lee JH

OBJECTIVE: Vitamin D-binding protein (VDBP) mediates various biological processes in humans. The goal of this study was to investigate whether VDBP gene polymorphisms could predispose Korean women to endometriosis. METHODS: We...
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Effects of Obesity and Family History of Diabetes on the Association of CETP rs6499861 with HDL-C Level in Korean Populations

Sull JW, Kim S, Jee SH

OBJECTIVES: The aim of this study was to examine the associations of cholesterol ester transfer protein (CETP) rs6499861 and rs12708980 with high-density lipoprotein cholesterol (HDL-C) considering obesity and family history...
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Genes Involved in Neurodevelopment, Neuroplasticity and Major Depression: No Association for CACNA1C, CHRNA7 and MAPK1

Calabrò M, Mandelli L, Crisafulli C, Lee SJ, Jun TY, Wang SM, Patkar AA, Masand PS, Han C, Pae CU, Serretti A

OBJECTIVE: Genetics factors are likely to play a role in the risk, clinical presentation and treatment outcome in major depressive disorder (MDD). In this study, we investigated the role of...
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Associations of Genetic Variations in Mismatch Repair Genes MSH3 and PMS1 with Acute Adverse Events and Survival in Patients with Rectal Cancer Receiving Postoperative Chemoradiotherapy

Yang J, Huang Y, Feng Y, Li H, Feng T, Chen J, Yin L, Wang W, Wang S, Liu Y, Song Y, Li Y, Jin J, Tan W, Lin D

PURPOSE: Mismatch repair (MMR) deficiency plays a critical role in rectal cancer. This study aimed to explore the associations between genetic variations in seven MMR genes and adverse events (AEs)...
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Association of IL-1 gene polymorphisms with chronic rhinosinusitis with and without nasal polyp

Mohamad S, Hamid SS, Azlina A, Md Shukri

BACKGROUND: Chronic rhinosinusitis (CRS) is one of the most common and complex chronic inflammatory disease of sinonasal mucosa. Even though the pathogenesis of CRS is multifactorial and still unclear, the...
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Congenital Analbuminemia in a Korean Male Diagnosed with Single Nucleotide Polymorphism in the ALB Gene: The First Case Reported in Korea

Kim Y, Yang YS, Park SS, Kim MJ, Shin CM, Choi SH

Congenital analbuminemia (CAA) is an autosomal recessive disease characterized by extremely low serum levels of albumin. CAA is caused by various homozygous or heterozygous mutations of the ALB gene. Patients...
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Associations for BCO2, PCSK9, and TR1B1 Polymorphism and Lifestyle Factors with Ischemic Stroke: A Nested Case-Control Study

Zhao TY, Li Z, Lei S, Huang L, Yang L

PURPOSE: To investigate associations for polymorphisms in β-carotene 9′,10′-oxygenase (BCO2, rs10431036 and rs11214109), proprotein convertase subtilisin kexin type 9 (PCSK9, rs11583680), and tribbles pseudokinase 1 (TRIB1, rs17321515 and rs2954029), as...
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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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