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Articles by Anna Köttgen
Deep Neural Patchworks Predict Renal Imaging Biomarkers From Non-contrast MRI via Knowledge Transfer From Arterial-Phase Contrast-Enhanced MRI
Abbreviations ADPKD (autosomal dominant polycystic kidney disease) ASSD (average symmetric surface distance) BA (Bland–Altman) CCC (concordance correlation coefficient) CE (contrast-enhanced) CKD (chronic kidney disease) CMD (corticomedullary differentiation) CNN (convolutional neural network) CRISP (Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease) DNP (Deep Neural Patchworks) FDR (false discovery rate) fwhm (full-width at half maximum) IQR (interquartile range) LoA...
Epigenetic markers of disease risk and psychotherapy response in anxiety disorders – a longitudinal analysis of the DNA methylome - Molecular Psychiatry
Abstract Epigenetic mechanisms such as DNA methylation are hypothesized to play a pivotal role in the pathogenesis of anxiety disorders and to predict as well as relate to treatment response.
Plasma Proteome Analyses in Individuals of European and African Ancestry Identify Cis-pQTLs and Models for Proteome-Wide Association Studies
Abstract Improved understanding of genetic regulation of the proteome can facilitate identification of the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from 7,213 European American (EA) and 1,871 African American (AA) individuals from the Atherosclerosis Risk in Communities study, and further replicated findings on 467 AA individuals from the African American Study of Kidney Disease and Hypertension study.
Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits - Nature Genetics
Abstract Genetic studies of the metabolome can uncover enzymatic and transport processes shaping human metabolism. Using rare variant aggregation testing based on whole-exome sequencing data to detect genes associated with levels of 1,294 plasma and 1,396 urine metabolites, we discovered 235 gene–metabolite associations, many previously unreported.
SLC17A1/3 transporters mediate renal excretion of Lac-Phe in mice and humans - Nature Communications
Abstract N-lactoyl-phenylalanine (Lac-Phe) is a lactate-derived metabolite that suppresses food intake and body weight. Little is known about the mechanisms that mediate Lac-Phe transport across cell membranes. Here we identify SLC17A1 and SLC17A3, two kidney-restricted plasma membrane-localized solute carriers, as physiologic urine Lac-Phe transporters. In cell culture, SLC17A1/3 exhibit high Lac-Phe efflux activity.
The pathogenesis of gout: molecular insights from genetic, epigenomic and transcriptomic studies - Nature Reviews Rheumatology
Abstract The pathogenesis of gout involves a series of steps beginning with hyperuricaemia, followed by the deposition of monosodium urate crystal in articular structures and culminating in an innate immune response, mediated by the NLRP3 inflammasome, to the deposited crystals. Large genome-wide association studies (GWAS) of serum urate levels initially identified the genetic variants with the strongest effects, mapping mainly to genes that encode urate transporters in the kidney and gut.
Clonal hematopoiesis of indeterminate potential is associated with acute kidney injury - Nature Medicine
Abstract Age is a predominant risk factor for acute kidney injury (AKI), yet the biological mechanisms underlying this risk are largely unknown. Clonal hematopoiesis of indeterminate potential (CHIP) confers increased risk for several chronic diseases associated with aging. Here we sought to test whether CHIP increases the risk of AKI.
‘Therapyepigenetics’: Epigenetic Predictors and Signatures of Treatment Response in Stress-Related Disorders
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Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy - Nature Genetics
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Author notes These authors contributed equally: Elena Sanchez-Rodriguez, Xu-Jie Zhou. These authors jointly supervised this work: Krzysztof Kiryluk, Ali G. Gharavi. Authors and Affiliations Department of Medicine, Vagelos College of Physicians and Surgeons, Columbia University, New York City, NY, USA Krzysztof Kiryluk, Elena Sanchez-Rodriguez, Francesca Zanoni, Lili Liu, Nikol Mladkova, Atlas Khan, Maddalena Marasa, Jun Y. Zhang, Olivia Balderes, Simone Sanna-Cherchi, Andrew S. Bomback, Pietro A.
By Krzysztof Kiryluk, Elena Sanchez-Rodriguez, Lili Liu, Atlas Khan, Jun Zhang, Simone Sanna-Cherchi, Andrew Bomback, Pietro Canetta, Ben Sprangers, Vladimir Tesar, Laureline Berthelot, Daniel Ranch, Scott E. Wenderfer, Maria Stangou, Antonio Amoroso, Gianluca Caridi, Licia Peruzzi, Gianluigi Zaza, Riccardo Magistroni, Dario Roccatello, Natalia Krata, Krzysztof Mucha, Magdalena Krajewska, Maria Szczepańska, Florian Kronenberg, Larisa Prikhodina, Andre Franke, Matthew T Weirauch, Leah C. Kottyan, Hitoshi Suzuki, Ichiei Narita, Dong Ki Kim, Jin-Ho Park, Murim Choi, Ana Elsa Huerta, Elisabet Ars, Sigrid Lundberg, Bruno Vogt, Daniel P. Gale, Pascal Schlosser, Arif B. Ekici, Kai-Uwe Eckardt, Iuliana Ionita-Laza, Anna Köttgen, Jan Novak, Tetyana L. Vasylyeva, Oleh Akchurin, GianMarco Ghiggeri, Izabella Kuzmiuk-Glembin, Tomasz Hryszko, Ireneusz Habura, David van Heel, Laila-Yasmin Mani
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Nature
Verified
Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank - Nature Communications
Abstract Genome-wide association studies have discovered hundreds of associations between common genotypes and kidney function but cannot comprehensively investigate rare coding variants. Here, we apply a genotype imputation approach to whole exome sequencing data from the UK Biobank to increase sample size from 166,891 to 408,511.
A polygenic score predicts CKD across ancestries - Nature Reviews Nephrology
Chronic kidney disease (CKD) is often well advanced before it is detected. Although polygenic scores may enable the early stratification of patients at risk of CKD, the transferability of polygenic scores for the prediction of CKD to populations of non-European ancestry was limited. A new cross-ancestry polygenic score for CKD overcomes these issues, demonstrating good performance across ancestries. Refers to Khan, A. et al.
Designing Single-Cell RNA-Sequencing Experiments for Learning Latent Representations
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DNA methylation signature of chronic low-grade inflammation and its role in cardio-respiratory diseases - Nature Communications
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Abstract We performed a multi-ethnic Epigenome Wide Association study on 22,774 individuals to describe the DNA methylation signature of chronic low-grade inflammation as measured by C-Reactive protein (CRP). We find 1,511 independent differentially methylated loci associated with CRP. These CpG sites show correlation structures across chromosomes, and are primarily situated in euchromatin, depleted in CpG islands.
By Matthias Wielscher, Rima Mustafa, Oliver J. Robinson, Barbara Bodinier, Esther Walton, Pascal Schlosser, Rory Wilson, Saranya Palaniswamy, Ville Karhunen, Mohsen Ghanbari, Bruce M. Psaty, Marie Loh, Joshua C. Bis, Marc Chadeau-Hyam, Jennifer Brody, Alexia Cardona, Alicia Smith, Andrew Miller, Eirini Marouli, Xin Gao, Wolfgang Koenig, Annette Peters, Matthias Farlik, Yujing Xia, Alexander Teumer, Matthias Nauck, Macus Doerr, Terho Lehtimäki, Lili Milani, Krista Fisher, Vittorio Krogh, Karl-Heinz Herzig, Shengxu Li, Anna Köttgen, Bastiaan T Heijmans, Panos Deloukas, Ken Ong, Jordana T Bell, Paul Elliott, Hermann Brenner, Marian Beekman, Melanie Waldenberger, John Chambers, Marjo-Riitta Järvelin
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Nature
Verified
Plasma proteome analyses in individuals of European and African ancestry identify cis-pQTLs and models for proteome-wide association studies - Nature Genetics
Abstract Improved understanding of genetic regulation of the proteome can facilitate identification of the causal mechanisms for complex traits. We analyzed data on 4,657 plasma proteins from 7,213 European American (EA) and 1,871 African American (AA) individuals from the Atherosclerosis Risk in Communities study, and further replicated findings on 467 AA individuals from the African American Study of Kidney Disease and Hypertension study.
Polygenic Risk Scores for Kidney Function and Their Associations with Circulating Proteome, and Incident Kidney Diseases
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Mendelian Randomization Analysis as a Tool to Gain Insights into Causes of Diseases: A Primer
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Polygenic Risk Scores for Kidney Function and Their Associations with Circulating Proteome, and Incident Kidney Diseases
In order to get access to the article, you must have an account. If you have an account, enter your user name and password into the boxes above. If you do not have an account, follow the instructions below to create one. Once you have purchased the article, you will have access to it for 24 hours. Steps for Creating an Account: Click the "Purchase Access" button. The page will redisplay with the following message at the top of the screen. In the message, click to create an account.
Mendelian Randomization Analysis as a Tool to Gain Insights into Causes of Diseases: A Primer
In order to get access to the article, you must have an account. If you have an account, enter your user name and password into the boxes above. If you do not have an account, follow the instructions below to create one. Once you have purchased the article, you will have access to it for 24 hours. Steps for Creating an Account: Click the "Purchase Access" button. The page will redisplay with the following message at the top of the screen. In the message, click to create an account.
New genetic insights into kidney physiology and disease
Genetic research in nephrology is rapidly advancing. Key studies published in 2020 demonstrate that genetic findings can provide new tools for patient diagnosis and risk stratification as well as important insights into kidney physiology and disease mechanisms that could potentially lead to novel therapies. Key advances A genome-wide association study (GWAS) of membranous nephropathy identifies novel loci and validates a genetic risk score that could improve diagnosis of this rare disease1.
Insights into kidney diseases from genome-wide association studies
1.Eckardt, K.-U. et al. Evolving importance of kidney disease: from subspecialty to global health burden. Lancet 382, 158–169 (2013).2.International Society of Nephrology. KDIGO Clinical Practice Guideline for the Evaluation and Management of Chronic Kidney Disease. Kidney Int. Suppl. 3, 1–150 (2013).3.Matsushita, K. et al. Estimated glomerular filtration rate and albuminuria for prediction of cardiovascular outcomes: a collaborative meta-analysis of individual participant data.
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