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Your search keyword '"H. Eka Suchiman"' showing total 5 results
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5 results on '"H. Eka Suchiman"'

1. Comprehensive evaluation of smoking exposures and their interactions on DNA methylationResearch in context

Author

Thanh T. Hoang, Yunsung Lee, Daniel L. McCartney, Elin T.G. Kersten, Christian M. Page, Paige M. Hulls, Mikyeong Lee, Rosie M. Walker, Charles E. Breeze, Brian D. Bennett, Adam B. Burkholder, James Ward, Anne Lise Brantsæter, Ida H. Caspersen, Alison A. Motsinger-Reif, Marie Richards, Julie D. White, Shanshan Zhao, Rebecca C. Richmond, Maria C. Magnus, Gerard H. Koppelman, Kathryn L. Evans, Riccardo E. Marioni, Siri E. Håberg, Stephanie J. London, Bastiaan Heijmans, Peter ’t Hoen, Joyce van Meurs, Rick Jansen, Lude Franke, Dorret Boomsma, René Pool, Jenny van Dongen, Jouke Hottenga, Marleen van Greevenbroek, Coen Stehouwer, Carla van der Kallen, Casper Schalkwijk, Cisca Wijmenga, Sasha Zhernakova, Ettje Tigchelaar, P. Eline Slagboom, Marian Beekman, Joris Deelen, Diana Van Heemst, Jan Veldink, Leonard van den Berg, Cornelia van Duijn, Bert Hofman, Aaron Isaacs, André Uitterlinden, P. Mila Jhamai, Michael Verbiest, H. Eka Suchiman, Marijn Verkerk, Ruud van der Breggen, Jeroen van Rooij, Nico Lakenberg, Hailiang Mei, Maarten van Iterson, Michiel van Galen, Jan Bot, Dasha Zhernakova, Peter van ‘t Hof, Patrick Deelen, Irene Nooren, Matthijs Moed, Martijn Vermaat, René Luijk, Marc Bonder, Freerk van Dijk, Wibowo Arindrarto, Szymon Kielbasa, Morris Swertz, and Erik van Zwet

Subjects
Illumina EPIC array, Epigenomics, Secondhand smoke exposure, Dietary intake, Sex difference, Smoking cessation, Medicine, Medicine (General), R5-920
Abstract

Summary: Background: Smoking impacts DNA methylation, but data are lacking on smoking-related differential methylation by sex or dietary intake, recent smoking cessation (

Published
2024
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2. Heritability estimates for 361 blood metabolites across 40 genome-wide association studies

Author

Fiona A. Hagenbeek, René Pool, Jenny van Dongen, Harmen H. M. Draisma, Jouke Jan Hottenga, Gonneke Willemsen, Abdel Abdellaoui, Iryna O. Fedko, Anouk den Braber, Pieter Jelle Visser, Eco J. C. N. de Geus, Ko Willems van Dijk, Aswin Verhoeven, H. Eka Suchiman, Marian Beekman, P. Eline Slagboom, Cornelia M. van Duijn, BBMRI Metabolomics Consortium, Amy C. Harms, Thomas Hankemeier, Meike Bartels, Michel G. Nivard, and Dorret I. Boomsma

Subjects
Science
Abstract

Blood metabolite levels are under the influence of environmental and genetic factors. Here, Hagenbeek et al. perform heritability estimations for metabolite measures and determine the contribution of known metabolite loci to metabolite levels using data from 40 genome-wide association studies.

Published
2020
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3. Genetic and environmental influences interact with age and sex in shaping the human methylome

Author

Jenny van Dongen, Michel G. Nivard, Gonneke Willemsen, Jouke-Jan Hottenga, Quinta Helmer, Conor V. Dolan, Erik A. Ehli, Gareth E. Davies, Maarten van Iterson, Charles E. Breeze, Stephan Beck, BIOS Consortium, H. Eka Suchiman, Rick Jansen, Joyce B. van Meurs, Bastiaan T. Heijmans, P. Eline Slagboom, and Dorret I. Boomsma

Subjects
Science
Abstract

Differential impact of genetic and environmental influences on DNA methylation may result in sex- and age-related physiological variation and disease susceptibility. By analysing DNA methylome of 2,603 individuals from twin families, here, the authors establish a catalogue of between-individual variation in DNA methylation.

Published
2016
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4. Author Correction: Heritability estimates for 361 blood metabolites across 40 genome-wide association studies

Author

Fiona A. Hagenbeek, René Pool, Jenny van Dongen, H. M. Draisma, Jouke Jan Hottenga, Gonneke Willemsen, Abdel Abdellaoui, Iryna O. Fedko, Anouk den Braber, Pieter Jelle Visser, Eco J. C. N. de Geus, Ko Willems van Dijk, Aswin Verhoeven, H. Eka Suchiman, Marian Beekman, P. Eline Slagboom, Cornelia M. van Duijn, BBMRI Metabolomics Consortium, Amy C. Harms, Thomas Hankemeier, Meike Bartels, Michel G. Nivard, and Dorret I. Boomsma

Subjects
Science
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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5. TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.

Author

Spitali P, Zaharieva I, Bohringer S, Hiller M, Chaouch A, Roos A, Scotton C, Claustres M, Bello L, McDonald CM, Hoffman EP, Koeks Z, Eka Suchiman H, Cirak S, Scoto M, Reza M, 't Hoen PAC, Niks EH, Tuffery-Giraud S, Lochmüller H, Ferlini A, Muntoni F, and Aartsma-Rus A

Subjects
Adolescent, Child, Disease Progression, Humans, Male, Muscular Dystrophy, Duchenne pathology, Phenotype, Polymorphism, Single Nucleotide, Genes, Modifier, Muscular Dystrophy, Duchenne genetics
Abstract

Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the DMD gene leading to the lack of dystrophin. Variability in the disease course suggests that other factors influence disease progression. With this study we aimed to identify genetic factors that may account for some of the variability in the clinical presentation. We compared whole-exome sequencing (WES) data in 27 DMD patients with extreme phenotypes to identify candidate variants that could affect disease progression. Validation of the candidate SNPs was performed in two independent cohorts including 301 (BIO-NMD cohort) and 109 (CINRG cohort of European ancestry) DMD patients, respectively. Variants in the Tctex1 domain containing 1 (TCTEX1D1) gene on chromosome 1 were associated with age of ambulation loss. The minor alleles of two independent variants, known to affect TCTEX1D1 coding sequence and induce skipping of its exon 4, were associated with earlier loss of ambulation. Our data show that disease progression of DMD is affected by a new locus on chromosome 1 and demonstrate the possibility to identify genetic modifiers in rare diseases by studying WES data in patients with extreme phenotypes followed by multiple layers of validation.

Published
2020
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