Login

Leonard H. van den Berg

ORCID: 0000-0002-6559-3965
Publications
Citations
Views
---
Saved
---
About
Contact & Profiles
A5070233617
Research Areas
  • Amyotrophic Lateral Sclerosis Research
  • Neurogenetic and Muscular Disorders Research
  • Peripheral Neuropathies and Disorders
  • Parkinson's Disease Mechanisms and Treatments
  • Hereditary Neurological Disorders
  • Neurological diseases and metabolism
  • Genetic Associations and Epidemiology
  • Prion Diseases and Protein Misfolding
  • RNA modifications and cancer
  • Epigenetics and DNA Methylation
  • Peripheral Nerve Disorders
  • Genetic Neurodegenerative Diseases
  • Molecular Biology Techniques and Applications
  • Gene expression and cancer classification
  • Congenital Anomalies and Fetal Surgery
  • Nerve injury and regeneration
  • Cancer-related gene regulation
  • Cholinesterase and Neurodegenerative Diseases
  • RNA Research and Splicing
  • Family and Disability Support Research
  • Alzheimer's disease research and treatments
  • Health Systems, Economic Evaluations, Quality of Life
  • Multiple Sclerosis Research Studies
  • Biochemical Acid Research Studies
  • Palliative Care and End-of-Life Issues

University Medical Center Utrecht
 2016-2025

Utrecht University
 2012-2025

University Medical Center
 2020-2025

University Hospital and Clinics
 2024-2025

Cancer Genomics Centre
 2024

Peking University
 2013-2024

Peking University Third Hospital
 2013-2024

The University of Queensland
 2024

Royal Brisbane and Women's Hospital
 2024

Stanford University
 2024

 Systematic identification of trans eQTLs as putative drivers of known disease associations
OPENALEX - Publications 
Harm-Jan Westra Marjolein J. Peters Tõnu Esko Hanieh Yaghootkar Claudia Schurmann and 54 more Johannes Kettunen Mark Christiansen Benjamin P. Fairfax Katharina Schramm Joseph E. Powell Alexandra Zhernakova Daria V. Zhernakova Jan H. Veldink Leonard H. van den Berg Juha Karjalainen Sebo Withoff André G. Uitterlinden Albert Hofman Fernando Rivadeneira Peter A.C. ’t Hoen Eva Reinmaa Krista Fischer Mari Nelis Lili Milani David Melzer Luigi Ferrucci Andrew B. Singleton Dena Hernández Michael A. Nalls Georg Homuth Matthias Nauck Dörte Radke Uwe Völker Markus Perola Veikko Salomaa Jennifer A. Brody Astrid Suchy‐Dicey Sina A. Gharib Daniel A. Enquobahrie Thomas Lumley Grant W. Montgomery Seiko Makino Holger Prokisch Christian Herder Michael Roden Harald Grallert Thomas Meitinger Konstantin Strauch Yang Li Ritsert C. Jansen Peter M. Visscher Julian C. Knight Bruce M. Psaty Samuli Ripatti Alexander Teumer Timothy M. Frayling Andres Metspalu Joyce B. J. van Meurs Lude Franke

10.1038/ng.2756 article EN Nature Genetics 2013-09-08
 Multiple common variants for celiac disease influencing immune gene expression
OPENALEX - Publications 
P Dubois Gosia Trynka Lude Franke Karen A. Hunt Jihane Romanos and 62 more Alessandra Curtotti Alexandra Zhernakova Graham Heap Róza Ádány Arpo Aromaa Maria Teresa Bardella Leonard H. van den Berg Nicholas Bockett Emilio G. de la Concha Bárbara Dema Rudolf S.N. Fehrmann Miguel Fernández‐Arquero Szilvia Fiatal Elvira Grandone Peter M. Green Harry J.M. Groen Rhian Gwilliam Roderick H.J. Houwen Sarah Hunt Katri Kaukinen Dermot Kelleher Ilma R. Korponay–Szabó Kalle Kurppa Padraic MacMathúna Markku Mäki Maria Cristina Mazzilli Owen T McCann M. Luisa Mearin Charles A. Mein Muddassar M. Mirza Vanisha Mistry Barbara Mora Katherine I. Morley Chris J. Mulder Joseph A. Murray Concepción Núñez Elvira Oosterom Roel A. Ophoff Isabel Polanco Leena Peltonen Mathieu Platteel Anna Rybak Veikko Salomaa Joachim J. Schweizer Maria Pia Sperandeo Greetje J. Tack Graham Turner Jan H. Veldink Wieke H.M. Verbeek Rinse K. Weersma Victorien M. Wolters Elena Urcelay Božena Cukrowská Luigi Greco Susan L. Neuhausen Ross McManus Donatella Barisani Panos Deloukas Jeffrey C. Barrett Päivi Saavalainen Cisca Wijmenga David A. van Heel

10.1038/ng.543 article EN Nature Genetics 2010-02-28
 Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
OPENALEX - Publications 
Elizabeth T. Cirulli Brittany N. Lasseigne Slavé Petrovski Peter C. Sapp Patrick A. Dion and 66 more Claire S. Leblond Julien Couthouis Yifan Lu Quanli Wang Brian J. Krueger Zhong Ren Jonathan Keebler Yujun Han Shawn Levy Braden Boone Jack R. Wimbish Lindsay L. Waite Lindsay Waite Jones John P. Carulli Kelly L. Williams John F. Staropoli Winnie Xin Alessandra Chesi Alya R. Raphael Diane McKenna‐Yasek Janet Cady J.M.B.V. de Jong Kevin P. Kenna Bradley Smith Simon Topp Jack W. Miller Soragia Athina Gkazi Ammar Al‐Chalabi Leonard H. van den Berg Jan H. Veldink Vincenzo Silani Nicola Ticozzi Christopher E. Shaw Robert H. Baloh Stanley H. Appel Ericka Simpson Clotilde Lagier‐Tourenne Stefan M. Pulst Summer Gibson John Q. Trojanowski Lauren Elman Leo McCluskey Murray Grossman Neil A. Shneider Wendy K. Chung John Ravits Jonathan D. Glass Katherine B. Sims Vivianna M. Van Deerlin Tom Maniatis Sebastian Hayes Alban Ordureau Sharan Swarup John E. Landers Frank Baas Andrew S. Allen Richard Bedlack J. Wade Harper Aaron D. Gitler Guy A. Rouleau Robert H. Brown Matthew B. Harms Gregory M. Cooper Tim Harris R Myers David B. Goldstein

Amyotrophic lateral sclerosis (ALS) is a devastating neurological disease with no effective treatment. We report the results of moderate-scale sequencing study aimed at increasing number genes known to contribute predisposition for ALS. performed whole-exome 2869 ALS patients and 6405 controls. Several were found be associated, TBK1 (the gene encoding TANK-binding kinase 1) was identified as an gene. bind phosphorylate proteins involved in innate immunity autophagy, including optineurin...

10.1126/science.aaa3650 article EN Science 2015-02-21
 Whole-genome sequence variation, population structure and demographic history of the Dutch population
OPENALEX - Publications 
Laurent C. Francioli Androniki Menelaou Sara L. Pulit Freerk van Dijk Pier Francesco Palamara and 79 more Clara C. Elbers Pieter B. Neerincx Kai Ye Victor Guryev Wigard P. Kloosterman Patrick Deelen Abdel Abdellaoui Jin‐Moo Lee Mannis van Oven Martijn Vermaat Mingkun Li Jeroen F. J. Laros Lennart C. Karssen Alexandros Kanterakis Najaf Amin Jouke‐Jan Hottenga Eric-Wubbo Lameijer Mathijs Kattenberg Martijn Dijkstra Heorhiy Byelas Jessica van Setten Barbera D. C. van Schaik Jan Bot Isaäc J. Nijman Ivo Renkens Tobias Marschall Alexander Schönhuth Jayne Y. Hehir‐Kwa Robert E. Handsaker Paz Polak Mashaal Sohail Dana Vuzman Fereydoun Hormozdiari David van Enckevort Hailiang Mei Vyacheslav Koval Matthijs H. Moed K. Joeri van der Velde Fernando Rivadeneira Karol Estrada Carolina Medina‐Gómez Aaron Isaacs Steven A. McCarroll Marian Beekman Anton J. M. de Craen H. Eka D. Suchiman Albert Hofman Ben Oostra André G. Uitterlinden Gonneke Willemsen Mathieu Platteel Jan H. Veldink Leonard H. van den Berg Steven J. Pitts Shobha Potluri Purnima Sundar David R. Cox Shamil Sunyaev Johan T. den Dunnen Mark Stoneking Peter de Knijff Manfred Kayser Qibin Li Yingrui Li Yuanping Du Ruoyan Chen Hongzhi Cao Ning Li Sujie Cao Jun Wang Jasper Bovenberg Itsik Pe’er P. Eline Slagboom Cornelia M. van Duijn Dorret I. Boomsma Gert‐Jan B. van Ommen Paul I. W. de Bakker Morris A. Swertz Cisca Wijmenga

10.1038/ng.3021 article EN Nature Genetics 2014-06-29
 Identification of context-dependent expression quantitative trait loci in whole blood
OPENALEX - Publications 
Daria V. Zhernakova Patrick Deelen Martijn Vermaat Maarten van Iterson Michiel van Galen and 42 more Wibowo Arindrarto Peter van ‘t Hof Hailiang Mei Freerk van Dijk Harm-Jan Westra Marc Jan Bonder Jeroen van Rooij Marijn Verkerk P. Mila Jhamai Matthijs Moed Szymon M. Kiełbasa Jan Bot Irene Nooren René Pool Jenny van Dongen Jouke Hottenga Coen D.A. Stehouwer Carla Kallen Casper G. Schalkwijk Alexandra Zhernakova Yang Li Ettje F. Tigchelaar Niek de Klein Marian Beekman Joris Deelen Diana van Heemst Leonard H. van den Berg Albert Hofman André G. Uitterlinden Marleen M. J. van Greevenbroek Jan H. Veldink Dorret I. Boomsma Cornelia M. van Duijn Cisca Wijmenga P. Eline Slagboom Morris A. Swertz Aaron Isaacs Joyce B. J. van Meurs Rick Jansen Bastiaan T. Heijmans Peter A.C. ‘t Hoen Lude Franke

10.1038/ng.3737 article EN Nature Genetics 2016-12-05
 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
OPENALEX - Publications 
Michael A. van Es Jan H. Veldink Christiaan G. J. Saris Hylke M. Blauw Paul W.J. van Vught and 49 more Anna Birve Robin Lemmens Helenius J. Schelhaas Ewout J. N. Groen Mark Huisman Anneke J. van der Kooi Marianne de Visser Caroline Dahlberg Karol Estrada Fernando Rivadeneira Albert Hofman Machiel J. Zwarts Perry T.C. van Doormaal Dan Rujescu Eric Strengman Ina Giegling Pierandrea Muglia Barbara Tomik Agnieszka Słowik André G. Uitterlinden Corinna Hendrich Stefan Waibel Thomas Meyer Albert C. Ludolph Jonathan D. Glass Shaun Purcell Sven Cichon Markus M. Nöthen H‐Erich Wichmann Stefan Schreiber Sita H. Vermeulen Lambertus A. Kiemeney John H. J. Wokke Simon Cronin Russell L. McLaughlin Orla Hardiman Katsumi Fumoto R. Jeroen Pasterkamp Vincent Meininger Judith Melki P. Nigel Leigh Christopher E. Shaw John E. Landers Ammar Al‐Chalabi Robert H. Brown Wim Robberecht Peter M. Andersen Roel A. Ophoff Leonard H. van den Berg

10.1038/ng.442 article EN Nature Genetics 2009-09-06
 Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study
OPENALEX - Publications 
Ammar Al‐Chalabi Andrea Calvo Adriano Chiò Shuna Colville Cathy Ellis and 21 more Orla Hardiman Mark Heverin Robin Howard Mark Huisman Noa Keren P. Nigel Leigh Letizia Mazzini Gabriele Mora Richard W. Orrell James Rooney Kirsten M. Scott William J. Scotton Meinie Seelen Christopher E. Shaw Katie Sidle Robert Swingler Miho Tsuda Jan H. Veldink Anne E Visser Leonard H. van den Berg Neil Pearce

10.1016/s1474-4422(14)70219-4 article EN The Lancet Neurology 2014-10-08
 Genetic and environmental influences interact with age and sex in shaping the human methylome
OPENALEX - Publications 
Jenny van Dongen Michel G. Nivard Gonneke Willemsen Jouke‐Jan Hottenga Quinta Helmer and 53 more Conor V. Dolan Erik A. Ehli Gareth E. Davies Maarten van Iterson Charles E. Breeze Stephan Beck Peter A.C. ‘t Hoen René Pool Marleen M. J. van Greevenbroek Coen D.A. Stehouwer Carla Kallen Casper G. Schalkwijk Cisca Wijmenga Sasha Zhernakova Ettje F. Tigchelaar Marian Beekman Joris Deelen Diana van Heemst Jan H. Veldink Leonard H. van den Berg Cornelia M. van Duijn Bert A. Hofman André G. Uitterlinden P. Mila Jhamai Michaël Verbiest Marijn Verkerk Ruud van der Breggen Jeroen van Rooij Nico Lakenberg Hailiang Mei Jan Bot Dasha V. Zhernakova Peter van’t Hof Patrick Deelen Irene Nooren Matthijs Moed Martijn Vermaat René Luijk Marc Jan Bonder Freerk van Dijk Michiel van Galen Wibowo Arindrarto Szymon M. Kiełbasa Morris A. Swertz Erik W. van Zwet Aaron Isaacs Lude Franke H. Eka D. Suchiman Rick Jansen Joyce B. J. van Meurs Bastiaan T. Heijmans P. Eline Slagboom Dorret I. Boomsma

Abstract The methylome is subject to genetic and environmental effects. Their impact may depend on sex age, resulting in sex- age-related physiological variation disease susceptibility. Here we estimate the total heritability of DNA methylation levels whole blood variance explained by common single nucleotide polymorphisms at 411,169 sites 2,603 individuals from twin families, establish a catalogue between-individual methylation. Heritability estimates vary across genome (mean=19%)...

10.1038/ncomms11115 article EN cc-by Nature Communications 2016-04-07
 Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS
OPENALEX - Publications 
Bradley Smith Nicola Ticozzi Claudia Fallini Soragia Athina Gkazi Simon Topp and 68 more Kevin P. Kenna Emma L. Scotter Jason Kost Pamela Keagle Jack W. Miller Daniela Calini Caroline Vance Eric W. Danielson Claire Troakes Cinzia Tiloca Safa Al‐Sarraj Elizabeth Lewis Andrew King Claudia Colombrita Viviana Pensato Barbara Castellotti Jacqueline de Belleroche Frank Baas Anneloor L.M.A. ten Asbroek Peter C. Sapp Diane McKenna‐Yasek Russell L. McLaughlin Meraida Polak Pamela J. Shaw Jesús Esteban‐Pérez José Luis Muñoz‐Blanco Michael A. Simpson Wouter van Rheenen Frank P. Diekstra Giuseppe Lauria Stefano Duga Stefania Corti Cristina Cereda Lucia Corrado Gianni Sorarù Karen Morrison Kelly L. Williams Garth A. Nicholson Ian P. Blair Patrick A. Dion Claire S. Leblond Guy A. Rouleau Orla Hardiman Jan H. Veldink Leonard H. van den Berg Ammar Al‐Chalabi Hardev Pall Pamela J. Shaw Martin R. Turner Kevin Talbot Franco Taroni Alberto García‐Redondo Zheyang Wu Jonathan D. Glass Cinzia Gellera Antonia Ratti Robert H. Brown Vincenzo Silani Christopher E. Shaw John E. Landers Sandra D’Alfonso Letizia Mazzini Giacomo P. Comi Roberto Del Bo Mauro Ceroni Stella Gagliardi Giorgia Querin Cinzia Bertolin

10.1016/j.neuron.2014.09.027 article EN publisher-specific-oa Neuron 2014-10-01
 EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
OPENALEX - Publications 
Annelies Van Hoecke Lies Schoonaert Robin Lemmens Mieke Timmers Kim A. Staats and 18 more Angela S. Laird Elke Peeters Thomas Philips An Goris Bénédicte Dubois Peter M. Andersen Ammar Al‐Chalabi Vincent Thijs Ann M. Turnley Paul W van Vught Jan H. Veldink Orla Hardiman Ludo Van Den Bosch Paloma González-Pérez Philip Van Damme Robert H. Brown Leonard H. van den Berg Wim Robberecht

10.1038/nm.2901 article EN Nature Medicine 2012-08-26
 Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration
OPENALEX - Publications 
Claire L. Simpson Robin Lemmens Katarzyna Miśkiewicz Wendy Broom Valerie K. Hansen and 25 more Paul W.J. van Vught John E. Landers Peter C. Sapp Ludo Van Den Bosch Jo Knight Benjamin M. Neale Martin R. Turner Jan H. Veldink Roel A. Ophoff Vineeta B. Tripathi Ana Beleza‐Meireles Meera N. Shah Petroula Proitsi Annelies Van Hoecke Peter Carmeliet H. Robert Horvitz P. Nigel Leigh Christopher E. Shaw Leonard H. van den Berg Pak C. Sham John Powell Patrik Verstreken Robert H. Brown Wim Robberecht Ammar Al‐Chalabi

Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation the genes SOD1 and TARDBP accounts for small percentage of cases, other have shown association both candidate gene genome-wide studies, but genetic causes remain largely unknown. We performed two independent parallel implicating RNA polymerase II component, ELP3 , axonal biology neuronal degeneration. In first, an...

10.1093/hmg/ddn375 article EN cc-by-nc Human Molecular Genetics 2008-11-07
 The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions
OPENALEX - Publications 
Javier Simón‐Sánchez Elise G.P. Dopper Petra E. Cohn‐Hokke Renate K. Hukema Nayia Nicolaou and 16 more Harro Seelaar J. Roos A. de Graaf Inge de Koning Natasja M. van Schoor Dorly J. H. Deeg Marion Smits Joost Raaphorst Leonard H. van den Berg Helenius J. Schelhaas Christine de Die‐Smulders Daniëlle Majoor‐Krakauer Annemieke J.M. Rozemüller Rob Willemsen Yolande A.L. Pijnenburg Peter Heutink John C. van Swieten

There is increasing evidence that frontotemporal dementia and amyotrophic lateral sclerosis are part of a disease continuum. Recently, hexanucleotide repeat expansion in C9orf72 was identified as major cause both sporadic familial sclerosis. The aim this study to investigate clinical neuropathological characteristics expansions large cohort Dutch patients with dementia. Repeat were successfully determined 353 or without sclerosis, 522 neurologically normal controls. Immunohistochemistry...

10.1093/brain/awr353 article EN Brain 2012-02-01
 Population genetic differentiation of height and body mass index across Europe
OPENALEX - Publications 
Matthew R. Robinson Gibran Hemani Carolina Medina‐Gómez Massimo Mezzavilla Tõnu Esko and 38 more Konstantin Shakhbazov Joseph E. Powell Anna A. E. Vinkhuyzen Sonja I. Berndt Stefan Gustafsson Anne E. Justice Bratati Kahali Adam E. Locke Tune H. Pers Sailaja Vedantam Andrew R. Wood Wouter van Rheenen Ole A. Andreassen Paolo Gasparini Andres Metspalu Leonard H. van den Berg Jan H. Veldink Fernando Rivadeneira Thomas Werge Gonçalo R. Abecasis Dorret I. Boomsma Daniel I. Chasman Eco J. C. de Geus Timothy M. Frayling Joel N. Hirschhorn Jouke‐Jan Hottenga Erik Ingelsson Ruth J. F. Loos Patrik K. E. Magnusson Nicholas G. Martin Grant W. Montgomery Kari E. North Nancy L. Pedersen Timothy D. Spector Elizabeth K. Speliotes Michael E. Goddard Jian Yang Peter M. Visscher

10.1038/ng.3401 article EN Nature Genetics 2015-09-14
 Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors
OPENALEX - Publications 
Mark K. Bakker Rick A. A. van der Spek Wouter van Rheenen Sandrine Morel Romain Bourcier and 69 more Isabel C. Hostettler Varinder S. Alg Kristel R. van Eijk Masaru Koido Masato Akiyama Chikashi Terao Koichi Matsuda Robin Walters Kuang Lin Liming Li Iona Y. Millwood Zhengming Chen Guy A. Rouleau Sirui Zhou Kristiina Rannikmäe Cathie Sudlow Henry Houlden Leonard H. van den Berg Christian Dina Olivier Naggara Jean‐Christophe Gentric Eimad Shotar François Eugène Hubert Desal Bendik S. Winsvold Sigrid Børte Marianne Bakke Johnsen Ben Brumpton Marie Søfteland Sandvei Cristen J. Willer Kristian Hveem John‐Anker Zwart W. M. Monique Verschuren Christoph M. Friedrich Sven Hirsch Sabine Schilling Jérôme Dauvillier O. Martin Gregory T. Jones Matthew J. Bown Nerissa Ko Helen Kim Jonathan R. I. Coleman Gerome Breen Jonathan G. Zaroff Catharina J.M. Klijn Rainer Malik Martin Dichgans Muralidharan Sargurupremraj Turgut Tatlisumak Philippe Amouyel Stéphanie Debette Gabriël J.E. Rinkel Bradford B. Worrall Joanna Pera Agnieszka Słowik Emília Gaál‐Paavola Mika Niemelä Juha E. Jääskeläinen Mikael von und zu Fraunberg Antti Lindgren Joseph Broderick David J. Werring Daniel Woo Richard Redon Philippe Bijlenga Yoichiro Kamatani Jan H. Veldink Ynte M. Ruigrok

10.1038/s41588-020-00725-7 article EN Nature Genetics 2020-11-16
 Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology
OPENALEX - Publications 
Mark Huisman Sonja W. de Jong Perry T.C. van Doormaal Stephanie S. Weinreich Helenius J. Schelhaas and 4 more Anneke J. van der Kooi Marianne de Visser Jan H. Veldink Leonard H. van den Berg

<h3>Background</h3> Variation in the incidence rate epidemiological studies on amyotrophic lateral sclerosis (ALS) may be due to a small population size and under ascertainment of patients. The previously reported decline elderly decrease male:female ratio postmenopausal age groups have yet confirmed. <h3>Methods</h3> ALS epidemiology large based register Netherlands was studied between 1 January 2006 31 December 2009, applied capture–recapture methodology separate gender adjust for number...

10.1136/jnnp.2011.244939 article EN Journal of Neurology Neurosurgery & Psychiatry 2011-05-27
 C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits
OPENALEX - Publications 
Max Koppers Anna M. Blokhuis Henk‐Jan Westeneng Margo L. Terpstra Caroline A. C. Zundel and 7 more Renata Vieira de Sá Raymond D. Schellevis Adrian J. Waite Derek J. Blake Jan H. Veldink Leonard H. van den Berg R. Jeroen Pasterkamp

Objective How hexanucleotide (GGGGCC) repeat expansions in C9ORF72 cause amyotrophic lateral sclerosis (ALS) remains poorly understood. Both gain‐ and loss‐of‐function mechanisms have been proposed. Evidence supporting these vivo is, however, incomplete. Here we determined the effect of C9orf72 mice. Methods We generated analyzed a conditional knockout mouse model. fl/fl mice were crossed with Nestin‐Cre to selectively remove from neurons glial cells. Immunohistochemistry was performed study...

10.1002/ana.24453 article EN cc-by-nc-nd Annals of Neurology 2015-06-05
 Unraveling the Regulatory Mechanisms Underlying Tissue-Dependent Genetic Variation of Gene Expression
OPENALEX - Publications 
Jingyuan Fu Marcel G. M. Wolfs Patrick Deelen Harm-Jan Westra Rudolf S.N. Fehrmann and 14 more Gerard J. te Meerman Wim A. Buurman Sander S. Rensen Harry J.M. Groen Rinse K. Weersma Leonard H. van den Berg Jan H. Veldink Roel A. Ophoff Harold Snieder David A. van Heel Ritsert C. Jansen Marten H. Hofker Cisca Wijmenga Lude Franke

It is known that genetic variants can affect gene expression, but it not yet completely clear through what mechanisms variation mediate this expression. We therefore compared the cis-effect of single nucleotide polymorphisms (SNPs) on expression between blood samples from 1,240 human subjects and four primary non-blood tissues (liver, subcutaneous, visceral adipose tissue skeletal muscle) 85 subjects. characterized different for 2,072 probes show tissue-dependent regulation tissues: average...

10.1371/journal.pgen.1002431 article EN cc-by PLoS Genetics 2012-01-19
Coming Soon ...