Publications by authors named "Khor C"

Diffuse large B-cell lymphoma (DLBCL) is an aggressive malignancy and the most common form of non-Hodgkin lymphoma (NHL) that occurs worldwide. To discover risk factors and pathogenesis of DLBCL, we performed the largest GWAS of DLBCL to date in samples of East Asian ancestry, consisting of 2,888 patients with DLBCL and 12,458 controls. The meta-analysis identified three novel loci, rs2233434 on 6p21.

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  • The study investigates how plasma metabolites are linked to the progression of chronic kidney disease in individuals with type 2 diabetes, focusing on kidney function decline measured by eGFR slope.
  • Researchers analyzed data from over 5,000 people, identifying specific elevated levels of lipids and amino acids that influence kidney function, both positively and negatively.
  • The findings suggest that metabolite abnormalities, particularly related to fatty acids, may indicate issues with fat breakdown and are connected to the risk of worsening kidney health in diabetic patients.
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Background And Aim: Endoscopic submucosal dissection (ESD) is considered the best modality for achieving en bloc resection of larger neoplastic mucosal lesions in the upper and lower gastrointestinal (GI) tract. Multiple devices are available for ESD, and refinements continue to be made to develop devices that improve the safety and efficiency of performing ESD. Submucosal injection with viscous fluids like glycerol, which prolong submucosal expansion, could facilitate the procedure.

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Parkinson's disease (PD) is an incurable, progressive and common movement disorder that is increasing in incidence globally because of population aging. We hypothesized that the landscape of rare, protein-altering variants could provide further insights into disease pathogenesis. Here we performed whole-exome sequencing followed by gene-based tests on 4,298 PD cases and 5,512 controls of Asian ancestry.

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  • * A multi-ethnic meta-analysis revealed 22 risk loci linked to NTG, with 17 of these not previously identified, including significant new associations with BMP4 and TBKBP1.
  • * Findings suggest there’s a genetic overlap in risk factors between NTG and HTG, but NTG shows a generally lower risk effect, pointing to the potential for immunomodulatory treatments as neuroprotective options for glaucoma.
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Importance: Primary open-angle glaucoma (POAG) polygenic risk scores (PRSs) continue to be evaluated in primarily European-ancestry populations despite higher prevalence and worse outcomes in African-ancestry populations.

Objective: To evaluate how established POAG PRSs perform in African-ancestry samples from the Genetics in Glaucoma Patients of African Descent (GIGA), Genetics of Glaucoma in Individuals of African Descent (GGLAD), and Million Veteran Program (MVP) datasets and compare these with European-ancestry samples.

Design, Setting, And Participants: This was a multicenter, cross-sectional study of POAG cases and controls from Tanzania, South Africa, Nigeria, Ghana, and the US.

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  • The 2013 Asia-Pacific consensus on managing hilar cholangiocarcinoma was updated due to new evidence regarding endoscopic treatment for malignant hilar biliary obstruction (MHBO).
  • A review of literature using a PICO framework led to the creation of consensus statements and key concepts, with expert approval through the modified Delphi method.
  • The final recommendations address diagnosis, biliary drainage strategies, recurrent obstruction management, cholecystitis post-stenting, and pre-stenting treatments, but emphasize that they should complement, not replace, multidisciplinary decisions for individual patients.
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Antithrombotic agents, including antiplatelet agents and anticoagulants, are widely used in Korea because of the increasing incidence of cardiocerebrovascular disease and the aging population. The management of patients using antithrombotic agents during endoscopic procedures is an important clinical challenge. The clinical practice guidelines for this issue, developed by the Korean Society of Gastrointestinal Endoscopy, were published in 2020.

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Background: Adult height has been associated with handgrip strength, which is a surrogate marker of physical frailty. However, it is uncertain if this association is causative or due to confounding bias.

Methods: We evaluated pairwise associations among handgrip strength, adult height, and genetically determined height (using a polygenic score [PGS] for height in a mediation framework and a 2-sample Mendelian randomization approach) by means of a multivariable regression model using a prospective cohort of Chinese living in Singapore.

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Serological evidence has shown the presence of several mosquito-borne arbovirus infections among the inhabitants of the forest fringe areas of the tropics. Among these infections, Japanese encephalitis, dengue fever, chikungunya fever and Zika fever could be targeted for vaccination to overcome severe infection and limit the disease transmission. Seroprevalence data among this high-risk population are needed to provide an estimate of the potential cost-effectiveness of any vaccine programme targeting these infections.

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Antithrombotic agents, including antiplatelet agent and anticoagulants are widely used in Korea due to increasing incidence of cardio-cerebrovascular disease and aging population. The management of patients using antithrombotic agents during endoscopic procedures is an important clinical challenge. Clinical practice guideline regarding this issue which was developed by the Korean Society of Gastrointestinal Endoscopy was published in 2020.

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Purpose: To assess the association of a polygenic risk score (PRS) for functional genetic variants with the risk of developing breast cancer.

Methods: Summary data-based Mendelian randomization (SMR) and heterogeneity in dependent instruments (HEIDI) were used to identify breast cancer risk variants associated with gene expression and DNA methylation levels. A new SMR-based PRS was computed from the identified variants (functional PRS) and compared to an established 313-variant breast cancer PRS (GWAS PRS).

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The present study aimed at exploring whether sunlight exposure might account for the relative difference in COVID-19-related morbidity and mortality between tropical and non-tropical countries. A retrospective observational study was designed and data from the World Health Organization weekly COVID-19 epidemiological update was compiled. We examined the total number of confirmed COVID-19 cases per 100 000 population, as well as the total number of COVID-19-related mortalities per 100 000 population.

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Device assisted enteroscopy (DAE) like the double balloon enteroscopy (DBE) and single balloon enteroscopy (SBE) are postulated to ease small bowel examination and performance of therapy. However, studies comparing the effectiveness of these 2 modalities have yielded varying results. The aim of this study is to compare the efficacy and safety of SBE and DBE.

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Bispyridinylidenes are neutral organic molecules capable of two-electron oxidation at a range of redox potentials that are widely tunable by choice of substituent, making them attractive as homogeneous organic reductants and active materials in redox flow batteries. In an effort to readily predict the redox potentials of this important class of compounds, we have developed correlations between the experimental redox potentials and both experimental and theoretical predictors. On the experimental side, we show that multinuclear NMR chemical shifts of related pyridinium ions correlate well with the redox potentials of bispyridinylidenes, with R and standard errors (S) reaching 0.

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Antithrombotic agents, including antiplatelet agents and anticoagulants, are widely used in Korea because of the increasing incidence of cardiocerebrovascular disease and the aging population. The management of patients using antithrombotic agents during endoscopic procedures is an important clinical challenge. The clinical practice guidelines for this issue, developed by the Korean Society of Gastrointestinal Endoscopy, were published in 2020.

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  • Type 1 diabetes (T1DM) is an autoimmune disease that destroys insulin-producing cells in the pancreas, and this study aimed to evaluate immune cell changes at the single-cell level for the first time.
  • Researchers analyzed immune cells from 46 T1DM patients and 31 controls, finding significant gene expression alterations in immune cells that were greater than those observed in another autoimmune disease, systemic lupus erythematosus (SLE).
  • The study developed a new metric, the T1DM metagene z-score (TMZ score), which could categorize patients, correlate with existing immune markers, and help inform treatment responses, highlighting the major immune shifts present in T1DM.
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Herein, advancements in electroanalytical devices for the simultaneous detection of diverse breast cancer (BC) markers are demonstrated. This article identifies several important areas of exploration for electrochemical diagnostics and highlights important factors that are pivotal for the successful deployment of novel bioanalytical devices. We have highlighted that the limits of detection (LOD) reported for the multiplex electrochemical biosensor can surpass the sensitivity displayed by current clinical standards such as ELISA, FISH, and PCR.

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  • Type 2 diabetes (T2D) is a complex disease influenced by various genetic factors and molecular mechanisms that vary by cell type and ancestry.
  • In a large study involving over 2.5 million individuals, researchers identified 1,289 significant genetic associations linked to T2D, including 145 new loci not previously reported.
  • The study categorized T2D signals into eight distinct clusters based on their connections to cardiometabolic traits and showed that these genetic profiles are linked to vascular complications, emphasizing the role of obesity-related processes across different ancestry groups.
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Background: DNA methylation accumulates in non-malignant gastric mucosa after exposure to pathogens. To elucidate how environmental, methylation, and lifestyle factors interplay to influence primary gastric neoplasia (GN) risk, we analyzed longitudinally monitored cohorts in Japan and Singapore.

Methods: Asymptomatic subjects who underwent a gastric mucosal biopsy on the health check-up were enrolled.

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Primary open-angle glaucoma (POAG), the leading cause of irreversible blindness worldwide, disproportionately affects individuals of African ancestry. We conducted a genome-wide association study (GWAS) for POAG in 11,275 individuals of African ancestry (6,003 cases; 5,272 controls). We detected 46 risk loci associated with POAG at genome-wide significance.

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X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1.

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