Research Topics
Genomes and Genes
| Jorge R OksenbergSummaryAffiliation: University of California Country: USA Publications
| Collaborators
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Detail Information
Publications
Synergy or independence? Deciphering the interaction of HLA Class I and NK cell KIR alleles in early HIV-1 disease progressionJason D Barbour
HIV AIDS Division, Department of Medicine, San Francisco General Hospital, University of California San Francisco, San Francisco, California, United States of America
PLoS Pathog 3:e43. 2007
Genetics of demyelinating diseasesJ R Oksenberg
Department of Neurology, School of Medicine, University of California, San Francisco 94143 0435, USA
Brain Pathol 6:289-302. 1996..However, no single locus generated overwhelming evidence of linkage. These results suggest a multifactorial etiology, including both environmental and multiple genetic factors of moderate effect...
Mapping multiple sclerosis susceptibility to the HLA-DR locus in African AmericansJorge R Oksenberg
Department of Neurology, University of California at San Francisco, San Francisco, CA 94143 0435, USA
Am J Hum Genet 74:160-7. 2004..This finding is unlikely to be solely explained by admixture, since a substantial proportion of the susceptibility chromosomes from African American patients with MS displayed haplotypes consistent with an African origin...- Genetics of multiple sclerosisJorge R Oksenberg
Department of Neurology, University of California at San Francisco, School of Medicine, 513 Parnassus Avenue S-256, San Francisco, CA 94143-0435, USA
Neurol Clin 23:61-75, vi. 2005 - Multiple sclerosis genetics: leaving no stone unturnedJ R Oksenberg
Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143, USA
Genes Immun 6:375-87. 2005.... - New insights into the immunogenetics of multiple sclerosisJ R Oksenberg
Department of Neurology, School of Medicine, University of California, San Francisco 94143 0114, USA
Curr Opin Neurol 10:181-5. 1997..With the advent of genomic screening and novel statistical approaches, it is possible now to perform an efficient screen of the entire human genome to identify the genetic components of multiple sclerosis... - Multiple sclerosis: genomic rewardsJ R Oksenberg
Department of Neurology, School of Medicine, University of California, 94143 0435, San Francisco, CA, USA
J Neuroimmunol 113:171-84. 2001..Their identification and characterization is likely to define the basic etiology of the disease, improve risk assessment and influence therapeutics... 
Modification of Multiple Sclerosis Phenotypes by African Ancestry at HLABruce A C Cree
Department of Neurology, University of California San Francisco, USA
Arch Neurol 66:226-33. 2009....- Refining the association of MHC with multiple sclerosis in African AmericansJoseph P McElroy
Department of Neurology, University of California, San Francisco, CA 94143, USA
Hum Mol Genet 19:3080-8. 2010.... - Aggregation of multiple sclerosis genetic risk variants in multiple and single case familiesPierre Antoine Gourraud
Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA, USA
Ann Neurol 69:65-74. 2011..We aimed at investigating the aggregation of genetic MS risk markers in individuals by comparing multiple- and single-case families... - Uncoupling the roles of HLA-DRB1 and HLA-DRB5 genes in multiple sclerosisStacy J Caillier
Department of Neurology, University of California, San Francisco, CA 94143, USA
J Immunol 181:5473-80. 2008..The data underscore the power of the African American MS dataset to identify disease genes by association in a region of high linkage disequilibrium... - Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility lociPhilip L De Jager
Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA, USA
Nat Genet 41:776-82. 2009.... - Variation within DNA repair pathway genes and risk of multiple sclerosisFarren B S Briggs
University of California, Berkeley, 94720, USA
Am J Epidemiol 172:217-24. 2010..Although other candidate genes examined here warrant further follow-up studies, collectively, these results derived from a well-powered study do not support a strong role for common variation within DNA repair pathway genes in MS... - A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01Bruce A C Cree
Department of Neurology, University of California San Francisco, San Francisco, California, United States of America
PLoS ONE 5:e11296. 2010..Whether other major histocompatibility complex (MHC) genes contribute to MS susceptibility is controversial... - Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosisEsther Byun
Department of Neurology, University of California, San Francisco, San Francisco, CA 94143 0435, USA
Arch Neurol 65:337-44. 2008..Recombinant interferon beta therapy is widely used to reduce disease activity in multiple sclerosis (MS). However, up to 50% of patients continue to have relapses and worsening disability despite therapy... - Genetic variation in the odorant receptors family 13 and the mhc loci influence mate selection in a multiple sclerosis datasetPouya Khankhanian
Department of Neurology, University of California, San Francisco, CA 94143 0435, USA
BMC Genomics 11:626. 2010..Attempts at replication of these genetic results in human studies, however, have reached conflicting conclusions... - Increased transcriptional activity of milk-related genes following the active phase of experimental autoimmune encephalomyelitis and multiple sclerosisDavid Otaegui
University of California San Francisco, San Francisco, CA 94143, USA
J Immunol 179:4074-82. 2007..The potential role of lactogenic hormones in MS is discussed... - Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive studyLisa F Barcellos
School of Public Health, Division of Epidemiology, University of California, Berkeley, CA, USA
Lancet Neurol 5:924-31. 2006..This distinct multiple-sclerosis phenotype, defined by its association with other autoimmune diseases, segregates with specific genotypes that could underlie the common susceptibility... - Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosisSergio E Baranzini
Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143 0435, USA
Brain 133:2603-11. 2010..Spectroscopy-based imaging provides a novel quantitative endophenotype for genetic association studies directed towards identifying new factors that contribute to the heterogeneity of clinical expression of multiple sclerosis... - Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosisLisa F Barcellos
Division of Epidemiology, School of Public Health, University of California, Berkeley 94720, USA, and Department of Clinical Neurosciences, University of Cambridge, Addenbrooke s Hospital, UK
Hum Mol Genet 15:2813-24. 2006.... - Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association dataJoanne H Wang
Department of Neurology, University of California San Francisco, San Francisco, CA 94143 0435, USA
Genome Med 3:3. 2011..Nevertheless, the knowledge of MS genetics remains incomplete, with many risk alleles still to be revealed... - CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosisPaola G Bronson
Genetic Epidemiology and Genomics Laboratory, Division of Epidemiology, School of Public Health, University of California, Berkeley, CA 94720 7356, USA
Hum Mol Genet 19:2331-40. 2010..15-1.95, P = 2.3 x 10(-3)) of CLEC16A rs6498169*G, a putative MS risk allele adjacent to CIITA. Our results provide strong evidence supporting a role for CIITA variation in MS risk, which appears to depend on the presence of DRB1*1501... - The autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosisAnn B Begovich
Celera, Alameda, CA, USA
Hum Immunol 68:934-7. 2007..Family-based association analysis was performed. There was no evidence of transmission distortion of any of the tested alleles in this data set... - Risk alleles for multiple sclerosis identified by a genomewide studyDavid A Hafler
Division of Molecular Immunology, Center for Neurologic Diseases, Department of Neurology, Brigham and Women s Hospital, and Harvard Medical School, Boston, USA
N Engl J Med 357:851-62. 2007..Multiple sclerosis has a clinically significant heritable component. We conducted a genomewide association study to identify alleles associated with the risk of multiple sclerosis... - Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosisSergio E Baranzini
Department of Neurology, University of California, San Francisco, CA 94143 0435, USA
Hum Mol Genet 18:767-78. 2009..Gene ontology-based analysis shows a functional dichotomy between genes involved in the susceptibility pathway and those affecting the clinical phenotype... - Genome, epigenome and RNA sequences of monozygotic twins discordant for multiple sclerosisSergio E Baranzini
Department of Neurology, University of California at San Francisco, San Francisco, California 94143, USA
Nature 464:1351-6. 2010..These are the first, to our knowledge, female, twin and autoimmune disease individual genome sequences reported... - Genome-wide network analysis reveals the global properties of IFN-beta immediate transcriptional effects in humansGuy Haskin Fernald
School of Medicine, University of California, San Francisco, CA 94143, USA
J Immunol 178:5076-85. 2007..Implications of this method in the creation of personalized models of response to therapy are discussed... - The genetics of multiple sclerosis: SNPs to pathways to pathogenesisJorge R Oksenberg
Department of Neurology, School of Medicine, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, California 94143 0435, USA
Nat Rev Genet 9:516-26. 2008.... - The HLA locus and multiple sclerosis in SicilyD Brassat
Department of Neurology, School of Medicine, University of California at San Francisco, CA 94143-0435, USA
Neurology 64:361-3. 2005..Sicilian patients share the HLA-DRB1*1501 susceptibility allele with affected living in continental Italy, but also display the allelic heterogeneity that characterizes Mediterranean populations... - APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answersR M Burwick
Division of Epidemiology, University of California, School of Public Health, Berkeley, CA 94720, USA
Neurology 66:1373-83. 2006..The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism... - Abrogation of T cell quiescence characterizes patients at high risk for multiple sclerosis after the initial neurological eventJean Christophe Corvol
Departments of Neurology and Radiology, University of California, San Francisco, CA 94143 0435, USA
Proc Natl Acad Sci U S A 105:11839-44. 2008..These results indicate that CIS patients at high risk of conversion have impaired regulation of T cell quiescence, possibly resulting in earlier activation of pathogenic CD4(+) cells... - Mapping gene activity in complex disorders: Integration of expression and genomic scans for multiple sclerosisGuy Haskin Fernald
Department of Neurology, School of Medicine, University of California, 513 Parnassus Avenue, S-256, San Francisco, CA 94143-0435, USA
J Neuroimmunol 167:157-69. 2005..Integration of genomic and transcriptional information is a powerful tool to dissect genetic susceptibility in complex multifactorial disorders like MS... - Copy number variation in African AmericansJoseph P McElroy
Department of Neurology, University of California, San Francisco, CA, USA
BMC Genet 10:15. 2009..It is important, therefore, to understand the distribution of CNVs within and among populations. This study is the first report of a CNV map in African Americans... - Pathway and network-based analysis of genome-wide association studies in multiple sclerosisSergio E Baranzini
Department of Neurology, School of Medicine, University of California San Francisco, 513 Parnassus Ave Room S 256, San Francisco, CA 94143 0435, USA
Hum Mol Genet 18:2078-90. 2009..In addition to the immunological pathways previously identified, we report here for the first time the potential involvement of neural pathways in MS susceptibility... - Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African AmericansD Brassat
Department of Neurology and Center for Human Genetics, School of Medicine, University of California at San Francisco, USA
Genes Immun 7:310-5. 2006..01). These results demonstrate the importance of exploring both main effects and gene-gene interactions in the study of complex diseases... - Evaluating the genomic and sequence integrity of human ES cell lines; comparison to normal genomesWalter D Funk
BioTime, Inc, Alameda, CA, USA
Stem Cell Res 8:154-64. 2012..The combined application of cytogenetic and molecular technologies provides a detailed understanding of genomic and sequence profiles of GMP produced ES lines for potential use as therapeutic agents... - Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility lociNikolaos A Patsopoulos
Program in Translational NeuroPsychiatric Genomics, Institute for the Neurosciences, Department of Neurology, Brigham and Women s Hospital, Boston, MA 02115, USA
Ann Neurol 70:897-912. 2011..To perform a 1-stage meta-analysis of genome-wide association studies (GWAS) of multiple sclerosis (MS) susceptibility and to explore functional consequences of new susceptibility loci... - Modular transcriptional activity characterizes the initiation and progression of autoimmune encephalomyelitisSergio E Baranzini
Department of Neurology, School of Medicine, University of California, San Francisco, 94143, USA
J Immunol 174:7412-22. 2005..Our study demonstrates the utility of large-scale transcriptional studies and advanced data mining to decipher complex biological processes such as those involved in MS and other neurodegenerative disorders... - Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibilityA J Green
Department of Neurology, University of California at San Francisco, School of Medicine, San Francisco, CA 94143-0435, USA
J Neuroimmunol 116:116-24. 2001..Distinct clinical phenotypes were also examined and an association between a TGFB1 haplotype and a mild disease course was present (p = 0.008), raising the possibility that TGFB1 or a nearby locus may influence disease expression... - Transcription-based prediction of response to IFNbeta using supervised computational methodsSergio E Baranzini
Department of Neurology, School of Medicine University of California, San Francisco, USA
PLoS Biol 3:e2. 2005..Large-scale kinetic reverse-transcription PCR, coupled with advanced data-mining efforts, can effectively reveal preexisting and drug-induced gene expression signatures associated with therapeutic effects... - Genomics and new targets for multiple sclerosisSergio E Baranzini
University of California, Department of Neurology, School of Medicine, San Francisco, CA 94143-0435, USA
Pharmacogenomics 6:151-61. 2005..Equally significant, it is likely that locus heterogeneity exists, whereby specific genes influence susceptibility and pathogenesis in some individuals but not in others... - Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosisL F Barcellos
Division of Epidemiology, School of Public Health, University of California, Berkeley, CA 94720 7356, USA
Genes Immun 9:493-500. 2008..The very largest study of NOS2A variation in MS, to date, excludes even a modest role for this locus in susceptibility... - HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease courseL F Barcellos
Department of Neurology, University of California at San Francisco, San Francisco, CA, USA
Am J Hum Genet 72:710-6. 2003..Concepts of the molecular mechanisms that underlie linkage and association of the human leukocyte antigen (HLA) region to MS need to be revised to accommodate these data... - ApoE alleles, depression and positive affect in multiple sclerosisL J Julian
Department of Medicine, University of California San Francisco, San Francisco, CA, USA
Mult Scler 15:311-5. 2009..Depression is common in multiple sclerosis (MS) and the role of ApoE alleles is unknown... - Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosisB A C Cree
Multiple Sclerosis Center, Department of Neurology, University of California San Francisco, 350 Parnassus Ave, Suite 908, San Francisco, CA 94117, USA
Neurology 63:2039-45. 2004..African American (AA) individuals are thought to develop multiple sclerosis (MS) less frequently than Caucasian American (CA) individuals... - In depth comparison of an individual's DNA and its lymphoblastoid cell line using whole genome sequencingDorothee Nickles
Department of Neurology, University of California San Francisco, 513 Parnassus Ave, Room S 256, San Francisco, CA, 94143 0435, USA
BMC Genomics 13:477. 2012..abstract:.. - Multiple sclerosis genetics 2010Joseph P McElroy
Department of Neurology, School of Medicine, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
Neurol Clin 29:219-31. 2011..This article summarizes the new knowledge gained from this experimental approach... - Differential impact of the CD45 juxtamembrane wedge on central and peripheral T cell receptor responsesMichelle L Hermiston
Department of Pediatrics, Medicine, Howard Hughes Medical Institute, University of California, San Francisco, CA 94143, USA
Proc Natl Acad Sci U S A 106:546-51. 2009..Together, the data support a role for the CD45 wedge in regulation of T cell responses in vivo and suggest that its effects depend on cellular context... - Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosisLisa F Barcellos
Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143 0435, USA
Ann Neurol 55:793-800. 2004..Our results provide strong evidence for linkage and association to a new candidate disease gene on chromosome 17q11 in MS and suggest that variation within NOS2A or a nearby locus contributes to disease susceptibility... - Multiple sclerosis genetics--is the glass half full, or half empty?Jorge R Oksenberg
Department of Neurology, School of Medicine, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143 0435, USA
Nat Rev Neurol 6:429-37. 2010..This Review briefly summarizes well-established concepts of MS epidemiology and susceptibility, and discusses new knowledge emerging from genome-wide association studies... - The molecular signature of therapeutic mesenchymal stem cells exposes the architecture of the hematopoietic stem cell niche synapseEnrico Pedemonte
Department of Neurology, School of Medicine, University of California, San Francisco, CA, USA
BMC Genomics 8:65. 2007.... - New insights into the genetics of multiple sclerosisSergio E Baranzini
Department of Neurology, San Francisco School of Medicine, University of California, 94143, USA
J Rehabil Res Dev 39:201-9. 2002..The identification and characterization of the genes are likely to define the basic etiology of the disease, improve risk assessment, and influence therapeutics... - Genotype-Phenotype correlations in multiple sclerosis: HLA genes influence disease severity inferred by 1HMR spectroscopy and MRI measuresD T Okuda
UCSF Multiple Sclerosis Center, University of California, San Francisco, San Francisco, California 94117, USA
Brain 132:250-9. 2009.... - Multiple sclerosis susceptibility alleles in African AmericansB A Johnson
Department of Neurology, University of California, San Francisco, CA 94143, USA
Genes Immun 11:343-50. 2010..None of the tested variants showed results that were statistically inconsistent with the effects established in whites. The results are consistent with shared disease genetic mechanisms among individuals of European and African ancestry... - Conferral of enhanced natural killer cell function by KIR3DS1 in early human immunodeficiency virus type 1 infectionBrian R Long
Division of Experimental Medicine, Department of Medicine, San Francisco General Hospital, University of California, San Francisco, USA
J Virol 82:4785-92. 2008.... - Vitamin D status is associated with relapse rate in pediatric-onset multiple sclerosisEllen M Mowry
MS Center, Department of Neurology, University of California, San Francisco, San Francisco, CA 94117, USA
Ann Neurol 67:618-24. 2010..We sought to determine if vitamin D status, a risk factor for multiple sclerosis, is associated with the rate of subsequent clinical relapses in pediatric-onset multiple sclerosis... - The neurobiology of multiple sclerosis: genes, inflammation, and neurodegenerationStephen L Hauser
Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, California 94143, USA
Neuron 52:61-76. 2006..Together, these advances have set the stage for the development of therapeutic approaches designed to target the demyelinating and neurodegenerative components of the disease and promote repair... - Multiple sclerosis geneticsJ P McElroy
Department of Neurology, School of Medicine, University of California at San Francisco, San Francisco, CA 94143, USA
Curr Top Microbiol Immunol 318:45-72. 2008.... - Osteopontin polymorphisms and disease course in multiple sclerosisS Caillier
Department of Neurology, University of California, San Francisco, CA 43143 0435, USA
Genes Immun 4:312-5. 2003..Patients with this genotype were less likely to have a mild disease course and were at increased risk for a secondary-progressive clinical type... - Genetic basis for clinical expression in multiple sclerosisL F Barcellos
Department of Neurology, University of California, San Francisco, California 94143-0114, USA
Brain 125:150-8. 2002..However, non-HLA genes or other epigenetic factors must modulate disease expression. Locus heterogeneity at the HLA region suggests a distinct immunopathogenesis in DR2 negative patients... - Gene expression analysis reveals altered brain transcription of glutamate receptors and inflammatory genes in a patient with chronic focal (Rasmussen's) encephalitisSergio E Baranzini
Department of Neurology, University of California at San Francisco, 513 Parnassus Avenue, S 256, San Francisco, CA 94143 0435, USA
J Neuroimmunol 128:9-15. 2002..e. IL1 beta, IgVH, and IL2R gamma among others) and a striking down-regulation of several GluRs, in particular mGluR4. This type of analysis may prove useful in describing the molecular events underlying intractable epilepsy... - Early editorial manuscript screening versus obligate peer review: a randomized trialS Claiborne Johnston
Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA
Ann Neurol 61:A10-2. 2007..Editorial screening is now journal policy... - Multiple sclerosis and oligodendrogliomaA J Green
Department of Neurology, University of California, San Francisco 94143-0114, USA
Mult Scler 7:269-73. 2001..It is likely that the coexistence of MS and oligodendroglioma is due to chance alone, nonetheless the possibility that glioma derived factors can moderate the disease course in MS is deserving of further study... - Single nucleotide polymorphisms in MHC2TA, the gene encoding the MHC class II transactivator (CIITA)J C Patarroyo
Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA
Genes Immun 3:34-7. 2002.... - Evolution of the CCR5 Delta32 mutation based on haplotype variation in Jewish and Northern European population samplesW Klitz
School of Public Health, University of California, Berkeley, CA, USA
Hum Immunol 62:530-8. 2001.... - Transcriptional analysis of multiple sclerosis brain lesions reveals a complex pattern of cytokine expressionS E Baranzini
Department of Neurology, University of California, San Francisco, CA 94143, USA
J Immunol 165:6576-82. 2000..Overall, our data suggest a complex regulation of the inflammatory response in human autoimmune demyelination... - PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patientsL F Barcellos
Department of Neurology, University of California at San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143, USA
Nat Genet 29:23-4. 2001..Overall, we observed no evidence of genetic association between the PTPRC polymorphism and MS susceptibility or disease course... - Longitudinal system-based analysis of transcriptional responses to type I interferonsD J Pappas
Department of Neurology, University of California, San Francisco, USA
Physiol Genomics 38:362-71. 2009..Through the analysis of the dynamic transcriptional events after differential IFN treatment, we were able to identify specific signatures and to uncover novel genes that may underpin the type I IFN response... - Pharmacogenomic analysis of interferon receptor polymorphisms in multiple sclerosisU Sriram
Department of Neurology, University of California, San Francisco 94143 0435, USA
Genes Immun 4:147-52. 2003..In addition, no significant association was observed of any of the IFNAR gene polymorphisms with susceptibility to MS, as studied by a family-based association analysis... - Characterizing the mechanisms of progression in multiple sclerosis: evidence and new hypotheses for future directionsE M Frohman
Department of Neurology, University of Texas Southwestern Medical Center at Dallas, 75235, USA
Arch Neurol 62:1345-56. 2005.... - Gene-microarray analysis of multiple sclerosis lesions yields new targets validated in autoimmune encephalomyelitisChristopher Lock
Department of Neurology and Neurological Sciences, Beckman Center, Stanford University, Stanford, California, USA
Nat Med 8:500-8. 2002..These results in EAE corroborate the microarray studies on MS lesions. Large-scale analysis of transcripts in MS lesions elucidates new aspects of pathology and opens possibilities for therapy... - Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosisSilke Schmidt
Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC 27710, USA
Am J Hum Genet 70:708-17. 2002..03), whereas a higher proportion of APOE-2 carriers exhibit a mild disease course (P=.02)... - Multiple sclerosis: deeper understanding of its pathogenesis reveals new targets for therapyLawrence Steinman
Department of Neurology and Neurological Sciences, Stanford University School of Medicine, California 94305, USA
Annu Rev Neurosci 25:491-505. 2002..Some of these participants may be useful targets for therapy... - The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-betaPablo Villoslada
Neuroimmunology Unit, Hospital Vall d'Hebron, Barcelona, Spain
J Neuroimmunol 130:194-201. 2002..Similarly, no difference in the distribution of responders and nonresponders to interferon-beta (IFNB) therapy, as defined by primary and secondary end points, was observed when individuals were stratified according to HLA-DR2 status... - Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative studyMargaret A Pericak-Vance
Center for Human Genetics, Duke University Medical Center, Durham, North Carolina, USA
Neurogenetics 5:45-8. 2004..Regions on 1p34, 3p14, and 19q13 produced lod scores >0.90 in at least one subset of the data, suggesting that these regions should be examined in more detail... - Methods for high-density admixture mapping of disease genesNick Patterson
Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA
Am J Hum Genet 74:979-1000. 2004..A particularly important result is that the power of an admixture mapping study to detect a locus will be nearly the same for a wide range of mixture scenarios: the mixture proportion should be 10%-90% from both ancestral populations... - Enhancing linkage analysis of complex disorders: an evaluation of high-density genotypingStephen J Sawcer
University of Cambridge Neurology Unit, Addenbrooke s Hospital, UK
Hum Mol Genet 13:1943-9. 2004..The extent of additional information extracted is considerable, indicating that reanalysis of existing multiplex families using these newer systems would substantially increase power... - A whole-genome admixture scan finds a candidate locus for multiple sclerosis susceptibilityDavid Reich
Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 37:1113-8. 2005..We describe here the first high-powered admixture scan, focusing on 605 African American cases and 1,043 African American controls, and report a locus on chromosome 1 that is significantly associated with multiple sclerosis... - Association of the truncating splice site mutation in BTNL2 with multiple sclerosis is secondary to HLA-DRB1*15James A Traherne
Cambridge Institute for Medical Research, Wellcome Trust MRC Building, Cambridge, UK
Hum Mol Genet 15:155-61. 2006..The association of BTNL2 with MS observed in the African-American data set was also secondary to the primary DRB1*15 association... - 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... - A high-density screen for linkage in multiple sclerosisStephen Sawcer
University of Cambridge, Department of Clinical Neuroscience, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, United Kingdom
Am J Hum Genet 77:454-67. 2005.... - Fine-mapping the genetic basis of CRP regulation in African Americans: a Bayesian approachBenjamin Rhodes
Section of Molecular Genetics and Rheumatology, Faculty of Medicine, Imperial College, Du Cane Road, London W12 0NN, UK
Hum Genet 123:633-42. 2008.... - 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... - Neurogenetics in the Annals: dealing with complexityJorge R Oksenberg
Ann Neurol 63:A11-4. 2008 - SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approachJacob L McCauley
Center for Human Genetics Research and Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, TN, USA
BMC Genomics 8:266. 2007..We chose annotated SNPs in the region based on location within MCSs (termed MCS-SNPs). We then obtained genotypes for 478 MCS-SNPs in 989 individuals from MS families... - Evidence for association of chromosome 10 open reading frame (C10orf27) gene polymorphisms and multiple sclerosisRobert Goertsches
Unitat de Neuroimmunologia Clinica, Hospital Universitari Vall d Hebron HUVH, 08035 Barcelona, Spain
Mult Scler 14:412-4. 2008..Transcript expression in brain lesions from MS patients was increased. These findings suggest C10orf27 as a candidate gene for MS susceptibility and pathogenesis... - Multiple susceptibility loci for multiple sclerosisJonathan L Haines
Program in Human Genetics, Vanderbilt University Medical Center, Nashville, TN 37232, USA
Hum Mol Genet 11:2251-6. 2002..These regions can now be targeted for detailed study to identify the underlying MS susceptibility genes... - Chromosome 7q21-22 and multiple sclerosisPablo Villoslada
J Neuroimmunol 150:1-2. 2004 - Complex gene-gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genesAlison A Motsinger
Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, 519 Light Hall, Vanderbilt University Medical School, Nashville, TN 37232 0700, USA
Neurogenetics 8:11-20. 2007..These results suggest that significant epistasis, or gene-gene interactions, may exist even in the absence of statistically significant individual main effects... - Re: GAMES issueJorge R Oksenberg
J Neuroimmunol 153:1-2. 2004 - The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosisAnn B Begovich
Am J Hum Genet 76:184-7. 2005 - Quantitative longitudinal analysis of T cell receptor repertoire expression in HIV-infected patients on antiretroviral and interleukin-2 therapyUma Sriram
Department of Neurology University of California at San Francisco, California 94143, USA
AIDS Res Hum Retroviruses 23:741-7. 2007..These results suggest that homeostasis in the T cell receptor repertoire is more robust in those patients who stay on HAART for a long time and confirm the polyclonal stimulating capacity of IL-2... - The Population Reference Sample, POPRES: a resource for population, disease, and pharmacological genetics researchMatthew R Nelson
GlaxoSmithKline, Research Triangle Park, NC 27709, USA
Am J Hum Genet 83:347-58. 2008..The genotype and demographic data from this reference sample are freely available through the NCBI database of Genotypes and Phenotypes (dbGaP)...