Genomes and Genes
Affiliation: Katholieke Universiteit Leuven
- Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's diseaseAn Goris
Department of Clinical Neurosciences Neurology Unit, University of Cambridge, Cambridge, United Kingdom
Ann Neurol 62:145-53. 2007..We investigated the genetic basis of susceptibility to and cognitive heterogeneity of this disease...
- KIR2DL4 (CD158d) polymorphisms and susceptibility to multiple sclerosisAn Goris
Katholieke Universiteit Leuven, Belgium
J Neuroimmunol 210:113-5. 2009..Whereas 26% of the study population has a genotype corresponding to a lack of any functional membrane-bound form of the molecule, no association of the KIR2DL4 transmembrane alleles with susceptibility to MS was observed...
- The immunogenetic architecture of autoimmune diseaseAn Goris
Division of Experimental Neurology, University of Leuven, Leuven, Belgium
Cold Spring Harb Perspect Biol 4:. 2012..With significant further advances in understanding the genetic risk factors and their biological mechanisms, the possibility of genetically tailored (or "personalized") therapy may be realized...
- Genetic variants are major determinants of CSF antibody levels in multiple sclerosisAn Goris
1 Laboratory for Neuroimmunology, Section of Experimental Neurology, Department of Neurosciences, KU Leuven University of Leuven, Leuven, Belgium
Brain 138:632-43. 2015..We confirm that genetic factors underlie these antibody levels and identify both the major histocompatibility complex and immunoglobulin heavy chain region as major determinants. ..
- Progress in multiple sclerosis geneticsAn Goris
Laboratory for Neuroimmunology, Section of Experimental Neurology, KU Leuven, Leuven, Belgium
Curr Genomics 13:646-63. 2012..We discuss how these translate into an improved understanding of disease mechanisms, and address current challenges such as genotype-phenotype correlations, functional mechanisms of risk variants and the missing heritability...
- A Taqman assay for high-throughput genotyping of the multiple sclerosis-associated HLA-DRB1*1501 alleleA Goris
Laboratory of Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Leuven, Belgium
Tissue Antigens 72:401-3. 2008..94. Subsequently, applying the assay to a group of MS patients and controls from Belgium confirmed the association of HLA-DRB1*1501 and MS in this population (P = 5 x 10(-21))...
- TNFRSF1A coding variants in multiple sclerosisAn Goris
Laboratory for Neuroimmunology, Section of Experimental Neurology, Katholieke Universiteit Leuven, Herestraat 49 bus 1022, 3000 Leuven, Belgium
J Neuroimmunol 235:110-2. 2011..26 (95% CI 1.41-3.61)], which appears independent of an established common risk variant in the same gene. No other non-synonymous variants in the same allele frequency range influencing risk of MS were observed...
- Replication of KIF21B as a susceptibility locus for multiple sclerosisA Goris
Laboratory for Neuroimmunology, Section of Experimental Neurology, O and N2, Herestraat 49, Box 1022, 3000 Leuven, Belgium
J Med Genet 47:775-6. 2010..KIF21B is a member of the kinesin superfamily and was recently established as a susceptibility locus for inflammatory bowel disease and for multiple sclerosis...
- Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort studySarah Debray
Department of Neurology, University of Leuven, Leuven, Belgium
Neurobiol Aging 34:2890.e7-2890.e12. 2013..C9orf72 repeat expansions are a frequent cause of ALS in Belgium, and also in sALS patients. These results might justify genetic testing of C9orf72 in all ALS patients. ..
- The distinct cognitive syndromes of Parkinson's disease: 5 year follow-up of the CamPaIGN cohortCaroline H Williams-Gray
Cambridge Centre for Brain Repair, Department of Clinical Neurosciences, University of Cambridge, Forvie Site, Robinson Way, Cambridge, CB2 0PY, UK
Brain 132:2958-69. 2009..Our work suggests that the dementing process in Parkinson's disease is predictable and related to tau while frontal-executive dysfunction evolves independently with a more dopaminergic basis and better prognosis...
- New candidate loci for multiple sclerosis susceptibility revealed by a whole genome association screen in a Belgian populationAn Goris
Rega Institute for Medical Research, Katholieke Universiteit Leuven, Minderbroedersstraat 10, 3000 Leuven, Belgium
J Neuroimmunol 143:65-9. 2003..g. the integrin ligand EDIL3, the high-mobility group box protein TOX, neutral sphingomyelinase activating factor (NSMAF) and the B-cell specific transcription factor POU2AF1...
- Association of the human leucocyte antigen region with susceptibility to Parkinson's diseaseMisuzu Saiki
Department of Clinical Neurosciences Cambridge Centre for Brain Repair, University of Cambridge, Cambridge, UK
J Neurol Neurosurg Psychiatry 81:890-1. 2010..The Human Leucocyte Antigen (HLA) region is one of the most important genetic susceptibility factors in many immune-mediated diseases but has not been extensively investigated in PD...
- Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factorMaria Ban
Department of Clinical Neuroscience, Addenbrooke s, Hospital, University of Cambridge, Cambridge, UK
Eur J Hum Genet 17:1309-13. 2009....
- Linkage disequilibrium screening for multiple sclerosis implicates JAG1 and POU2AF1 as susceptibility genes in EuropeansMaria Ban
University of Cambridge, Department of Clinical Neurosciences, Addenbrooke s Hospital, Hills Road, Cambridge, UK
J Neuroimmunol 179:108-16. 2006..Association mapping across the candidate genes implicated by these markers in 937 UK trio families revealed modestly associated haplotypes in JAG1 (p=0.019) on chromosome 20p12.2 and POU2AF1 (p=0.003) on chromosome 11q23.1...
- Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of diseaseIne Pauwels
Department of Neurosciences, Laboratory for Neuroimmunology, Section of Experimental Neurology, KU Leuven, Belgium
Mult Scler 19:1132-6. 2013....
- Apolipoprotein E genotype as a risk factor for susceptibility to and dementia in Parkinson's diseaseCaroline H Williams-Gray
Cambridge Centre for Brain Repair, Dept of Clinical Neurosciences, University of Cambridge, Forvie Site, Robinson Way, Cambridge, CB2 2PY, UK
J Neurol 256:493-8. 2009..Large scale longitudinal studies would be best placed to further evaluate any impact of APOE genotype on cognitive decline in PD...
- Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common strokeRobin Lemmens
Department of Neurology, University Hospitals Leuven, Leuven, Belgium
Eur J Hum Genet 17:1287-93. 2009..The risk variant on chromosome 9, tagged by rs10757278, is associated with coronary heart disease in the Belgian population, but not with isolated CVD. These findings suggest different pathogenic mechanisms in CAD versus CVD...
- A second major histocompatibility complex susceptibility locus for multiple sclerosisTai Wai Yeo
Department of Clinical Neurosciences, University of Cambridge, Addenbrooke s Hospital, Cambridge, United Kingdom
Ann Neurol 61:228-36. 2007..The possibility that other genes in the MHC independently influence susceptibility to multiple sclerosis has been suggested but remains unconfirmed...
- Chromosome 7q21-22 and multiple sclerosis: evidence for a genetic susceptibility effect in vicinity to the protachykinin-1 geneKoen Vandenbroeck
Rega Institute for Medical Research, University of Leuven, B 3000 Louvain, Belgium
J Neuroimmunol 125:141-8. 2002..e. D7S477, and MS. Overall, the analysis presented here may contribute to the increasingly refined genomic map of MS and underscores the requirement for a further high-resolution screening of chromosome 7q21-22...
- Genetic ablation of IP3 receptor 2 increases cytokines and decreases survival of SOD1G93A miceKim A Staats
KU Leuven University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease LIND
Hum Mol Genet 25:3491-3499. 2016..Altogether, our data indicate that IP3R2 protects against the negative effects of inflammation, suggesting that the increase in IP3R2 expression in ALS patients is a protective response...
- Burden of risk variants correlates with phenotype of multiple sclerosisKelly Hilven
Laboratory for Neuroimmunology, Department of Neurosciences, Experimental Neurology, KU Leuven University of Leuven, Belgium
Mult Scler 21:1670-80. 2015..More than 100 common variants underlying multiple sclerosis (MS) susceptibility have been identified, but their effect on disease phenotype is still largely unknown...
- Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiencyRobin Lemmens
Laboratory of Neurobiology, Vesalius Research Center, VIB, Leuven, Belgium
Hum Mol Genet 22:391-7. 2013..These findings suggest haploinsufficiency, a different mechanism from the commonly assumed dominant-negative effect, for COL4A1 mutations as a cause of (antenatal) intracerebral hemorrhage and white matter disease...
- EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humansAnnelies Van Hoecke
Laboratory of Neurobiology, Vesalius Research Center, VIB, Leuven, Belgium
Nat Med 18:1418-22. 2012..This suggests that Epha4 generically modulates the vulnerability of (motor) neurons to axonal degeneration and may represent a new target for therapeutic intervention...
- Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosisSarah Herdewyn
Department of Neurology, University of Leuven, Leuven, Belgium
Hum Mol Genet 21:2412-9. 2012..It also confirms (GGGGCC)n repeat expansions in C9orf72 as a cause of familial ALS...
- Polymorphisms in the GluR2 gene are not associated with amyotrophic lateral sclerosisElke Bogaert
Laboratory for Neurobiology, Experimental Neurology, University of Leuven, Leuven, Belgium
Neurobiol Aging 33:418-20. 2012..We conclude that polymorphisms in the GluR2 gene (GRIA2) are not a major contributory factor in the pathogenesis of ALS...
- Immunologic profiles of multiple sclerosis treatments reveal shared early B cell alterationsJames Dooley
Department of Immunology and Microbiology J D, D F, J E G P, D D A, A T L N, A L, Laboratory for Neuroimmunology, Department of Neurosciences I P, I S, K H, B Dubois, A G, Laboratory for Neurobiology, Department of Neurosciences L D M, Laboratory for Clinical and Experimental Endocrinology, Department of Clinical and Experimental Medicine B Decallonne, and Department of Neurology, University Hospitals Leuven I S, J T, B Dubois, KU Leuven University of Leuven and Center for the Biology of Disease J D, D F, J E G P, D D A, A T L N, A L, VIB L D M, Leuven, Belgium
Neurol Neuroimmunol Neuroinflamm 3:e240. 2016....
- No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosisAn Goris
Laboratory for Neuroimmunology, Experimental Neurology, KU Leuven, Leuven, Belgium
Hum Mol Genet 23:1916-22. 2014..Hence, our findings do not support a shared genetic background of common risk variants in MS and ALS. ..
- Interleukin-12 p40 polymorphism and susceptibility to multiple sclerosisIraide Alloza
Ann Neurol 52:524-5. 2002
- Cytokine gene polymorphisms in multifactorial diseases: gateways to novel targets for immunotherapy?Koen Vandenbroeck
Cytokine Biology and Genetics Programme, School of Pharmacy, Queen s University Belfast, Belfast BT9 7BL, UK
Trends Pharmacol Sci 24:284-9. 2003....
- SELPLG and SELP single-nucleotide polymorphisms in multiple sclerosisChiara Fenoglio
Department of Neurological Sciences, Dino Ferrari Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Italy
Neurosci Lett 394:92-6. 2006..Therefore, none of the SNPs investigated is associated with MS, although this analysis does not conclusively exclude SELPLG and SELP as genetic risk factors for MS as much variation remains untested...
- No alterations in alpha-synuclein gene dosage observed in sporadic Parkinson's diseaseCaroline H Williams-Gray
Mov Disord 21:731-2. 2006
- CD24 Ala/Val polymorphism and multiple sclerosisAn Goris
Department of Clinical Neurosciences, Neurology Unit, University of Cambridge, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
J Neuroimmunol 175:200-2. 2006..Since the CD24 gene is part of a segmental duplication, special care is required for the identification and genotyping of single nucleotide polymorphisms...
- No evidence for association of a European-specific chromosome 17 inversion with multiple sclerosisAn Goris
Eur J Hum Genet 14:1064. 2006
- Polymorphisms in the neuromyelitis optica auto-antigen AQP4 and susceptibility to multiple sclerosisMaria Ban
J Neurol 254:398-9. 2007
- Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetesEleftheria Zeggini
Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
Science 316:1336-41. 2007..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
- Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosisSimon G Gregory
Center for Human Genetics, Department of Molecular Genetics and Microbiology, Duke University Medical Center, Durham, North Carolina 27710, USA
Nat Genet 39:1083-91. 2007..The SNP influences the amount of soluble and membrane-bound isoforms of the protein by putatively disrupting an exonic splicing silencer...
- Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variantsPaul R Burton
Genetic Epidemiology Group, Department of Health Sciences, University of Leicester, Adrian Building, University Road, Leicester LE1 7RH, UK
Nat Genet 39:1329-37. 2007....
- Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's diseaseSheila A Fisher
Department of Medical and Molecular Genetics, King s College London School of Medicine, 8th Floor Guy s Tower, Guy s Hospital, London SE1 9RT, UK
Nat Genet 40:710-2. 2008..These data provide the first detailed illustration of the genetic relationship between these common inflammatory bowel diseases...
- Common variants near MC4R are associated with fat mass, weight and risk of obesityRuth J F Loos
MRC Epidemiology Unit, Addenbrooke s Hospital, Cambridge CB2 0QQ, UK
Nat Genet 40:768-75. 2008....