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Your search keyword '"Hylke M. Blauw"' showing total 2 results
Start Over Author "Hylke M. Blauw" Journal nature genetics
2 results on '"Hylke M. Blauw"'

1. Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis

Author

John H. J. Wokke, Cisca Wijmenga, Anna Birve, Jan H. Veldink, Vianney de Jong, Michael A. van Es, Robin Lemmens, Paul W.J. van Vught, Leonard H. van den Berg, Christine Van Broeckhoven, Peter M. Andersen, Bryan J. Traynor, Kristel Sleegers, Ruben van 't Slot, Ludo Van Den Bosch, Frank Baas, Wim Robberecht, Lude Franke, Jennifer C. Schymick, Roel A. Ophoff, Christiaan G J Saris, Helenius J. Schelhaas, Sonja W. de Jong, Hylke M. Blauw, ANS - Amsterdam Neuroscience, Neurology, Genome Analysis, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), and Stem Cell Aging Leukemia and Lymphoma (SALL)

Subjects
Oncology, medicine.medical_specialty, Potassium Channels, Nerve Tissue Proteins, Biology, Polymorphism, Single Nucleotide, White People, Polymorphism (computer science), Internal medicine, Genetic variation, Genetics, medicine, SNP, Humans, Genetic Predisposition to Disease, Genetic variability, Amyotrophic lateral sclerosis, Dipeptidyl-Peptidases and Tripeptidyl-Peptidases, MUTATIONS, Amyotrophic Lateral Sclerosis, Case-control study, Odds ratio, medicine.disease, Neuromuscular development and genetic disorders [UMCN 3.1], Confidence interval, SPORADIC ALS, Case-Control Studies, Functional Neurogenomics [DCN 2], Chromosomes, Human, Pair 7, Peptide Hydrolases
Abstract

Contains fulltext : 70185.pdf (Publisher’s version ) (Closed access) We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overall P value of 5.04 x 10(-8) in 1,767 cases and 1,916 healthy controls and with an odds ratio of 1.30 (95% confidence interval (CI) of 1.18-1.43). Our finding is the first report of a genome-wide significant association with sporadic ALS and may be a target for future functional studies.

Published
2008

2. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

Author

Albert C. Ludolph, Hylke M. Blauw, Karol Estrada, Fernando Rivadeneira, Marianne de Visser, Helenius J. Schelhaas, Roel A. Ophoff, Christopher Shaw, Russell L. McLaughlin, Simon Cronin, Pierandrea Muglia, Robin Lemmens, Orla Hardiman, Perry T.C. van Doormaal, Corinna Hendrich, Caroline Dahlberg, Markus M. Nöthen, P. Nigel Leigh, Jonathan D. Glass, Christiaan G J Saris, H-Erich Wichmann, Leonard H. van den Berg, Vincent Meininger, Katsumi Fumoto, Shaun Purcell, Mark H B Huisman, Judith Melki, Anna Birve, Lambertus A. Kiemeney, Anneke J. van der Kooi, Stefan Waibel, Thomas F. Meyer, Barbara Tomik, Michael A. van Es, John H. J. Wokke, Albert Hofman, Wim Robberecht, Eric Strengman, Stefan Schreiber, Dan Rujescu, Ina Giegling, R. Jeroen Pasterkamp, Peter M. Andersen, Sita H. Vermeulen, Machiel J. Zwarts, Robert H. Brown, Ewout J N Groen, Jan H. Veldink, Paul W.J. van Vught, Agnieszka Slowik, Sven Cichon, Ammar Al-Chalabi, André G. Uitterlinden, John Landers, Internal Medicine, Epidemiology, ANS - Amsterdam Neuroscience, and Neurology

Subjects
Population, Single-nucleotide polymorphism, Genome-wide association study, Locus (genetics), Aetiology, screening and detection [ONCOL 5], Biology, Polymorphism, Single Nucleotide, Molecular epidemiology [NCEBP 1], 03 medical and health sciences, 0302 clinical medicine, Translational research [ONCOL 3], Genetics, medicine, Perception and Action [DCN 1], SNP, Humans, International HapMap Project, Amyotrophic lateral sclerosis, education, 030304 developmental biology, 0303 health sciences, education.field_of_study, Hereditary cancer and cancer-related syndromes [ONCOL 1], Genome, Human, Haplotype, Amyotrophic Lateral Sclerosis, medicine.disease, Disease Susceptibility, Chromosomes, Human, Pair 9, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery, Genome-Wide Association Study
Abstract

Contains fulltext : 80631.pdf (Publisher’s version ) (Closed access) We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.

Published
2009

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