Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis

M. Camiña-Tato; M. Fernández; C. Morcillo-Suárez; A. Navarro; E. Julià; M. C. Edo; X. Montalban; M. Comabella

doi:10.1016/j.jneuroim.2010.03.003

Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis

M. Camiña-Tato, M. Fernández, C. Morcillo-Suárez, A. Navarro, E. Julià, M. C. Edo, X. Montalban, M. Comabella

Departament de Medicina

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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. © 2010 Elsevier B.V.

Idioma original	Anglès
Pàgines (de-a)	70-75
Revista	Journal of Neuroimmunology
Volum	222
Número	1-2
DOIs	https://doi.org/10.1016/j.jneuroim.2010.03.003
Estat de la publicació	Publicada - 1 de maig 2010

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10.1016/j.jneuroim.2010.03.003

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title = "Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis",

abstract = "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. {\textcopyright} 2010 Elsevier B.V.",

keywords = "Caspase 8, Multiple sclerosis, Polymorphisms",

author = "M. Cami{\~n}a-Tato and M. Fern{\'a}ndez and C. Morcillo-Su{\'a}rez and A. Navarro and E. Juli{\`a} and Edo, {M. C.} and X. Montalban and M. Comabella",

year = "2010",

month = may,

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doi = "10.1016/j.jneuroim.2010.03.003",

language = "English",

volume = "222",

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journal = "Journal of Neuroimmunology",

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TY - JOUR

T1 - Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis

AU - Camiña-Tato, M.

AU - Fernández, M.

AU - Morcillo-Suárez, C.

AU - Navarro, A.

AU - Julià, E.

AU - Edo, M. C.

AU - Montalban, X.

AU - Comabella, M.

PY - 2010/5/1

Y1 - 2010/5/1

N2 - 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. © 2010 Elsevier B.V.

AB - 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. © 2010 Elsevier B.V.

KW - Caspase 8

KW - Multiple sclerosis

KW - Polymorphisms

U2 - 10.1016/j.jneuroim.2010.03.003

DO - 10.1016/j.jneuroim.2010.03.003

M3 - Article

SN - 0165-5728

VL - 222

SP - 70

EP - 75

JO - Journal of Neuroimmunology

JF - Journal of Neuroimmunology

IS - 1-2

ER -

Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis

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