Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis

被引：10

作者：

Camina-Tato, M. ^{[1
]}

Fernandez, M. ^{[1
]}

Morcillo-Suarez, C. ^{[2
,3
]}

Navarro, A. ^{[2
,3
,4
]}

Julia, E. ^{[1
]}

Edo, M. C. ^{[1
]}

Montalban, X. ^{[1
]}

Comabella, M. ^{[1
]}

机构：

[1] Univ Autonoma Barcelona, HUVH, Dept Med, Unitat Neuroimmunol Clin,CEM Cat, Barcelona 08035, Spain

[2] Univ Pompeu Fabra, Dept Ciencies Expt & Salut, CSIC, Inst Biol Evolut, Barcelona, Spain

[3] Univ Pompeu Fabra, Natl Inst Bioinformat, Barcelona, Spain

[4] ICREA, Barcelona, Spain

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2010年 / 222卷 / 1-2期

关键词：

Caspase; 8; Multiple sclerosis; Polymorphisms; DISEASE; APOPTOSIS; AUTOIMMUNITY; EXPRESSION; CASPASES; PORTRAIT; GENOMICS; DEATH;

D O I：

10.1016/j.jneuroim.2010.03.003

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

We investigated caspase 8 (CASP8) as a candidate gene for multiple sclerosis (MS) susceptibility. Three SNPs (rs2037815, rs12990906 and rs1035140) were genotyped in 546 MS patients and 547 controls. For SNP rs2037815, GG homozygosity was associated with primary progressive multiple sclerosis (PPMS) when compared with relapse-onset MS and controls. We identified risk (GCA) and protective (ACT) haplotypes associated with PPMS when compared with relapse-onset MS and controls. GG homozygosity for SNP rs2037815 in PPMS patients was associated with a trend towards faster disease progression. These findings point to a role of CASP8 polymorphisms in the MS genetic risk in PPMS patients. (C) 2010 Elsevier B.V. All rights reserved.

引用

页码：70 / 75

页数：6

共 31 条

[1] Blood transcriptional signatures of multiple sclerosis: Unique gene expression of disease activity [J].

Achiron, A ;

Gurevich, M ;

Friedman, N ;

Kaminski, N ;

Mandel, M .

ANNALS OF NEUROLOGY, 2004, 55 (03) :410-417

[2] Modular transcriptional activity characterizes the initiation and progression of autoimmune encephalomyelitis [J].

Baranzini, SE ;

Bernard, CCA ;

Oksenberg, JR .

JOURNAL OF IMMUNOLOGY, 2005, 174 (11) :7412-7422

[3] The death effector domain protein family [J].

Barnhart, BC ;

Lee, JC ;

Alappat, EC ;

Peter, ME .

ONCOGENE, 2003, 22 (53) :8634-8644

[4] CONTROLLING THE FALSE DISCOVERY RATE - A PRACTICAL AND POWERFUL APPROACH TO MULTIPLE TESTING [J].

BENJAMINI, Y ;

HOCHBERG, Y .

JOURNAL OF THE ROYAL STATISTICAL SOCIETY SERIES B-STATISTICAL METHODOLOGY, 1995, 57 (01) :289-300

[5] The expanding genetic overlap between multiple sclerosis and type I diabetes [J].

Booth, David R. ;

Heard, Robert N. ;

Stewart, Graeme J. ;

Goris, An ;

Dobosi, Rita ;

Dubois, Benedicte ;

Lorentzen, Aslaug R. ;

Celius, Elisabeth G. ;

Harbo, Hanne F. ;

Spurkland, Anne ;

Olsson, Tomas ;

Kockum, Ingrid ;

Link, Jenny ;

Hillert, Jan ;

Ban, Maria ;

Baker, Amie ;

Sawcer, Stephen ;

Compston, Alastair ;

Mihalova, Tania ;

Strange, Richard ;

Hawkins, Clive ;

Ingram, Gillian ;

Robertson, Neil P. ;

De Jager, Philip L. ;

Hafler, David A. ;

Barcellos, Lisa F. ;

Ivinson, Adrian J. ;

Pericak-Vance, Margaret ;

Oksenberg, Jorge R. ;

Hauser, Stephen L. ;

McCauley, Jacob L. ;

Sexton, David ;

Haines, Jonathan .

GENES AND IMMUNITY, 2009, 10 (01) :11-14

[6] Genomic scale profiling of autoimmune inflammation in the central nervous system: the nervous response to inflammation [J].

Carmody, RJ ;

Hilliard, B ;

Maguschak, K ;

Chodosh, LA ;

Chen, YH .

JOURNAL OF NEUROIMMUNOLOGY, 2002, 133 (1-2) :95-107

[7] Apoptotic and effector pathways in autoimmunity [J].

Chervonsky, AV .

CURRENT OPINION IN IMMUNOLOGY, 1999, 11 (06) :684-688

[8] Current concepts in apoptosis: The physiological suicide program revisited [J].

Chowdhury, Indrajit ;

Tharakan, Binu ;

Bhat, Ganapathy K. .

CELLULAR & MOLECULAR BIOLOGY LETTERS, 2006, 11 (04) :506-525

[9] Genomics in multiple sclerosis - Current state and future directions [J].

Comabella, Manuel ;

Martin, Roland .

JOURNAL OF NEUROIMMUNOLOGY, 2007, 187 (1-2) :1-8

[10] Defective T cell Fas function in patients with multiple sclerosis [J].

Comi, C ;

Leone, M ;

Bonissoni, S ;

DeFranco, S ;

Bottarel, F ;

Mezzatesta, C ;

Chiocchetti, A ;

Perla, F ;

Monaco, F ;

Dianzani, U .

NEUROLOGY, 2000, 55 (07) :921-927

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