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Literature DB >> 20453840

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

Serena Sanna¹, Maristella Pitzalis, Magdalena Zoledziewska, Ilenia Zara, Carlo Sidore, Raffaele Murru, Michael B Whalen, Fabio Busonero, Andrea Maschio, Gianna Costa, Maria Cristina Melis, Francesca Deidda, Fausto Poddie, Laura Morelli, Gabriele Farina, Yun Li, Mariano Dei, Sandra Lai, Antonella Mulas, Gianmauro Cuccuru, Eleonora Porcu, Liming Liang, Patrizia Zavattari, Loredana Moi, Elisa Deriu, M Francesca Urru, Michele Bajorek, Maria Anna Satta, Eleonora Cocco, Paola Ferrigno, Stefano Sotgiu, Maura Pugliatti, Sebastiano Traccis, Andrea Angius, Maurizio Melis, Giulio Rosati, Gonçalo R Abecasis, Manuela Uda, Maria Giovanna Marrosu, David Schlessinger, Francesco Cucca.

Abstract

A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：

Year: 2010 PMID： 20453840 PMCID： PMC3786343 DOI： 10.1038/ng.584

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

15 in total

1. Essential role of the E3 ubiquitin ligase Cbl-b in T cell anergy induction.

Authors: Myung-Shin Jeon; Alex Atfield; K Venuprasad; Connie Krawczyk; Renu Sarao; Chris Elly; Chun Yang; Sudha Arya; Kurt Bachmaier; Leon Su; Dennis Bouchard; Russel Jones; Mathew Gronski; Pamela Ohashi; Teiji Wada; Debra Bloom; C Garrison Fathman; Yun-Cai Liu; Josef M Penninger
Journal: Immunity Date: 2004-08 Impact factor: 31.745

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Authors: Anna L Dixon; Liming Liang; Miriam F Moffatt; Wei Chen; Simon Heath; Kenny C C Wong; Jenny Taylor; Edward Burnett; Ivo Gut; Martin Farrall; G Mark Lathrop; Gonçalo R Abecasis; William O C Cookson
Journal: Nat Genet Date: 2007-09-16 Impact factor: 38.330

3. Negative regulation of lymphocyte activation and autoimmunity by the molecular adaptor Cbl-b.

Authors: K Bachmaier; C Krawczyk; I Kozieradzki; Y Y Kong; T Sasaki; A Oliveira-dos-Santos; S Mariathasan; D Bouchard; A Wakeham; A Itie; J Le; P S Ohashi; I Sarosi; H Nishina; S Lipkowitz; J M Penninger
Journal: Nature Date: 2000-01-13 Impact factor: 49.962

Review 4. The epidemiology of multiple sclerosis in Europe.

Authors: M Pugliatti; G Rosati; H Carton; T Riise; J Drulovic; L Vécsei; I Milanov
Journal: Eur J Neurol Date: 2006-07 Impact factor: 6.089

5. Dissection of the HLA association with multiple sclerosis in the founder isolated population of Sardinia.

Authors: M G Marrosu; R Murru; M R Murru; G Costa; P Zavattari; M Whalen; E Cocco; C Mancosu; L Schirru; E Solla; E Fadda; C Melis; I Porru; M Rolesu; F Cucca
Journal: Hum Mol Genet Date: 2001-12-01 Impact factor: 6.150

6. Negative regulation of CD40-mediated B cell responses by E3 ubiquitin ligase Casitas-B-lineage lymphoma protein-B.

Authors: Guilin Qiao; Minxiang Lei; Zhenping Li; Yonglian Sun; Andrew Minto; Yang-Xin Fu; Haiyan Ying; Richard J Quigg; Jian Zhang
Journal: J Immunol Date: 2007-10-01 Impact factor: 5.422

Review 7. Regulation of peripheral T cell tolerance by the E3 ubiquitin ligase Cbl-b.

Authors: Stefanie Loeser; Josef M Penninger
Journal: Semin Immunol Date: 2007-03-27 Impact factor: 11.130

8. Risk alleles for multiple sclerosis identified by a genomewide study.

Authors: David A Hafler; Alastair Compston; Stephen Sawcer; Eric S Lander; Mark J Daly; Philip L De Jager; Paul I W de Bakker; Stacey B Gabriel; Daniel B Mirel; Adrian J Ivinson; Margaret A Pericak-Vance; Simon G Gregory; John D Rioux; Jacob L McCauley; Jonathan L Haines; Lisa F Barcellos; Bruce Cree; Jorge R Oksenberg; Stephen L Hauser
Journal: N Engl J Med Date: 2007-07-29 Impact factor: 91.245

9. Mechanisms of NKT cell anergy induction involve Cbl-b-promoted monoubiquitination of CARMA1.

Authors: Satoshi Kojo; Chris Elly; Yohsuke Harada; Wallace Y Langdon; Mitchell Kronenberg; Yun-Cai Liu
Journal: Proc Natl Acad Sci U S A Date: 2009-10-07 Impact factor: 11.205

10. Cblb is a major susceptibility gene for rat type 1 diabetes mellitus.

Authors: Norihide Yokoi; Kajuro Komeda; He-Yao Wang; Hideki Yano; Kazuhiro Kitada; Yuka Saitoh; Yutaka Seino; Kazuki Yasuda; Tadao Serikawa; Susumu Seino
Journal: Nat Genet Date: 2002-07-15 Impact factor: 38.330

92 in total

1. Performance of genotype imputations using data from the 1000 Genomes Project.

Authors: Yun Ju Sung; Lihua Wang; Tuomo Rankinen; Claude Bouchard; D C Rao
Journal: Hum Hered Date: 2011-12-30 Impact factor: 0.444

2. Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.

Authors: Luba M Pardo; Giovanna Piras; Rosanna Asproni; Kristiaan J van der Gaag; Attilio Gabbas; Andres Ruiz-Linares; Peter de Knijff; Maria Monne; Patrizia Rizzu; Peter Heutink
Journal: Eur J Hum Genet Date: 2012-02-29 Impact factor: 4.246

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Authors: C M Lill; F Zipp
Journal: Nervenarzt Date: 2012-06 Impact factor: 1.214

Review 4. Multiple sclerosis.

Authors: Alyssa Nylander; David A Hafler
Journal: J Clin Invest Date: 2012-04-02 Impact factor: 14.808