8 results match your criteria: "Singapore (C.C.K.); Singapore Eye Research Institute[Affiliation]"
Direct inference and control of genetic population structure from RNA sequencing data.
Commun Biol
August 2023
Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia.
RNAseq data can be used to infer genetic variants, yet its use for estimating genetic population structure remains underexplored. Here, we construct a freely available computational tool (RGStraP) to estimate RNAseq-based genetic principal components (RG-PCs) and assess whether RG-PCs can be used to control for population structure in gene expression analyses. Using whole blood samples from understudied Nepalese populations and the Geuvadis study, we show that RG-PCs had comparable results to paired array-based genotypes, with high genotype concordance and high correlations of genetic principal components, capturing subpopulations within the dataset.
View Article and Find Full Text PDFStroke Risk and Antithrombotic Treatment During Follow-up of Patients With Ischemic Stroke and Cortical Superficial Siderosis.
Neurology
March 2023
From the Department of Neurology (J.M-F., P.C-R., A.R-P., M.G-J., A.M-D., D.G-A., L.P-S., L.P-S.), Neuroradiology Unit (B.M.G-A.), Department of Radiology, Hospital de la Santa Creu i Sant Pau, Biomedical Research Institute Sant Pau, Barcelona, Spain; Department of Brain Repair and Rehabilitation (J.G.B., D.W., C.B., S.B., R.S., D.W.), UCL Stroke Research Centre, University College London Queen Square, Institute of Neurology, UK; Department of Statistical Science (G.A.), University College London, UK; Seoul National University College of Medicine Cerebrovascular Disease Center (K-J.L., H-J.B.); Department of Neurology (J-S.L.), Asan Medical Center University of Ulsan College of Medicine, South Korea; Department of Cerebrovascular Medicine (M.S., M.K., K.T.), National Cerebral and Cardiovascular Centre, Japan; Federation Universitätsmedizin Mannheim (M.G.H.), University of Heidelberg, Germany; Department of Neurology (H.C., E.J.), Translational Neurovascular Centre, Assistance Publique Hôpitaux de Paris, Lariboisière Hospital, France; Division of Neurology, Department of Medicine and Department of Diagnostic Radiology (D.Y.K.W., H.M., K.K.L.), The University of Hong Kong; Department of Neurology (Y.D.K., T-J.S., J-H.H.), Yonsei University College of Medicine, Seoul, South Korea; Department of Neurology (S.E., T.G.), Medical University of Graz, Austria; Department of Neurology (E.U., D.S.D.), Saglık Bilimleri University, Hamidiye Etfal Education and Research Hospital, Istanbul, Turkey; Department of Neurology (N.B., E.B.A., H.H., J.A.M.), Tel-Aviv Sourasky Medical Center, Israel; Department of Radiology and Division of Neurology, Department of Internal Medicine (M.N., J.T., H.H., Y.Y.), Saga University Faculty of Medicine, Japan; Calgary Stroke Program, Department of Clinical Neurosciences, Radiology and Community Health Sciences (S.B.C., E.S.), Hotchkiss Brain Institute, University of Calgary, Canada; Department of Neurology and Stroke Centre (A.A.P., B.W., D.S., P.A.L., N.P., S.T.E.), University Hospital Basel and University of Basel, Switzerland; Centre for Clinical Brain Sciences (R.A-S.S.), School of Clinical Sciences, University of Edinburgh; Lysholm Department of Neuroradiology and the Neuroradiological Academic Unit, Department of Brain Repair and Rehabilitation (H.R.J.), University College London Institute of Neurology and the National Hospital for Neurology and Neurosurgery; Liverpool Centre for Cardiovascular Science (G.Y.H.L.), University of Liverpool, UK; Department of Neurology (M.G., L.P., S.J.), Inselspital, Bern University Hospital and University of Bern, Switzerland; Peninsula Clinical School (C.C.K., T.G.P., V.K.S.), Peninsula Health and Stroke and Ageing Research Group, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia; Department of Neurology (N.C., S.G., F.F.), University Hospital of Würzburg, Germany; Department of Medicine and Therapeutics (T.W.L., Y.O.Y.S., W.C., J.A.), Prince of Wales Hospital, The Chinese University of Hong Kong; Univ Lille (A-M.M., R.B.), Inserm, CHU de Lille. Lille Neuroscience & Cognition, Paris, France; Memory Aging & Cognition Centre (S.H., B.G., C.C.), Yong Loo Lin School of Medicine, National University of Singapore; Department of Neurology (D.N.O.), Istanbul Arel University, Turkey.
Article Synopsis
- Researchers studied patients with certain types of strokes (IS or TIA) to find out how a brain condition called cortical superficial siderosis (cSS) affects their risk of having more strokes in the future.
- They looked at data from a large group of patients and found that those with cSS had a higher chance of having more strokes than those without it.
- Patients with cSS who took both types of blood-thinning medicines had an even higher risk of severe strokes and intracranial hemorrhage (bleeding in the brain).
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals.
Commun Biol
June 2022
Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.
Article Synopsis
- Reduced glomerular filtration rate (GFR) is a precursor to kidney failure, influenced by factors like genetics and diabetes (DM), but the interaction between these factors is not well understood.
- A large-scale genome-wide association study (GWAS) analyzed eGFR across almost 1.5 million individuals, revealing distinct genetic loci that differ between those with and without diabetes.
- The findings identified potential new targets for drug development aimed at protecting kidney function, highlighting that many drug interventions could be effective for both diabetic and non-diabetic populations.
Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population.
Commun Biol
May 2021
Genome Institute of Singapore, Agency for Science, Technology, and Research, Singapore, Singapore.
Article Synopsis
- - The study investigates the role of low-frequency genetic variants in telomere length (LTL) among 25,533 Singapore Chinese individuals, emphasizing their potential link to chronic diseases and mortality.
- - Three specific variants near the POT1, TERF1, and STN1 genes were found to significantly affect LTL, with one variant (rs79314063) showing a notably strong effect independent of common variants.
- - The research indicates that genetically determined LTL is particularly associated with lung adenocarcinoma, and one variant (rs79617270) is linked to increased cancer mortality and may influence colon cancer risk through its effect on LTL.
Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract.
Commun Biol
December 2020
Singapore Eye Research Institute, Singapore National Eye Center, 168751, Singapore, Singapore.
Article Synopsis
- Nuclear cataract is the most prevalent type of cataract related to aging, contributing significantly to blindness globally.
- Researchers conducted a large multi-ethnic study with over 19,000 participants to identify genetic factors linked to this condition.
- They confirmed the association of the CRYAA gene and discovered five new genetic loci related to age-related nuclear cataract, highlighting the connection between this condition and genes involved in eye development.
Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in and That Are Common in Chinese Patients.
Circ Genom Precis Med
October 2020
National Heart Centre Singapore (C.J.P., N.T., C.W.L.C., S.Q.L., S.C.K., P.M.L., A.A.H., C.X.Y., T.T.L., H.C.T., S.A.C.).
Background: To assess the genetic architecture of hypertrophic cardiomyopathy (HCM) in patients of predominantly Chinese ancestry.
Methods: We sequenced HCM disease genes in Singaporean patients (n=224) and Singaporean controls (n=3634), compared findings with additional populations and White HCM cohorts (n=6179), and performed in vitro functional studies.
Results: Singaporean HCM patients had significantly fewer confidently interpreted HCM disease variants (pathogenic/likely pathogenic: 18%, <0.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Circulation
July 2020
Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, The Netherlands (N.L., R.T., Y.M., P.G.P., L.B., R.W., N.H., H.L.T., A.A.W., C.R.B.).
Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative).
View Article and Find Full Text PDFBrain-derived neurotrophic factor genetic polymorphism (rs6265) is protective against chemotherapy-associated cognitive impairment in patients with early-stage breast cancer.
Neuro Oncol
February 2016
Department of Pharmacy, National University of Singapore, Singapore (T.N., S.M.T., H.L.Y., M.S., Y.T.C., H.K.H., A.C.); Department of Pharmacy, National Cancer Centre Singapore, Singapore (Y.X.G., A.C.); Department of Pharmacy, K.K. Women's and Children's Hospital, Singapore (K.M.F.); Breast Centre, K.K. Women's and Children's Hospital, Singapore (M.T.C., J.A.L.); Department of Psychosocial Oncology, National Cancer Centre Singapore, Singapore (Y.P.T., G.F.); Department of Surgical Oncology, National Cancer Centre Singapore, Singapore (W.S.Y., M.P.); Department of Medical Oncology, National Cancer Centre Singapore, Singapore (W.-J.K.L., S.-L.K., A.J., G.E.L., M.W., R.D., Y.S.Y., R.N.); Duke-N.U.S Graduate Medical School Singapore, Singapore (R.D., R.N.); Human Genetics, Genome Institute of Singapore, Singapore (C.C.K.); Singapore Eye Research Institute, Singapore (C.C.K.).
Background: Brain-derived neurotrophic factor (BDNF), a neurotrophin that regulates neuronal function and development, is implicated in several neurodegenerative conditions. Preliminary data suggest that a reduction of BDNF concentrations may lead to postchemotherapy cognitive impairment. We hypothesized that a single nucleotide polymorphism (rs6265) of the BDNF gene may predispose patients to cognitive impairment.
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