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Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis

التفاصيل البيبلوغرافية
العنوان: Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis
المؤلفون: Eva Julià, Montse Camiña-Tato, M.C. Edo, M. Fernández, Xavier Montalban, Carlos Morcillo-Suarez, Arcadi Navarro, Manuel Comabella
المصدر: Journal of Neuroimmunology. 222:70-75
بيانات النشر: Elsevier BV, 2010.
سنة النشر: 2010
مصطلحات موضوعية: Adult, Genetic Markers, Male, Oncology, Candidate gene, medicine.medical_specialty, Genotype, DNA Mutational Analysis, Immunology, Single-nucleotide polymorphism, Bioinformatics, Polymorphism, Single Nucleotide, Severity of Illness Index, Linkage Disequilibrium, Multiple Sclerosis, Relapsing-Remitting, Gene Frequency, Internal medicine, Humans, Immunology and Allergy, SNP, Medicine, Genetic Predisposition to Disease, Genetic Testing, Allele, Genetic testing, Genetic association, Caspase 8, medicine.diagnostic_test, business.industry, Multiple sclerosis, Homozygote, Haplotype, Middle Aged, Multiple Sclerosis, Chronic Progressive, medicine.disease, Haplotypes, Neurology, Disease Progression, Female, Neurology (clinical), business
الوصف: 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.
تدمد: 0165-5728
1299-0906
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e42061efd89bd408c4db7e7f30814b90
https://doi.org/10.1016/j.jneuroim.2010.03.003
حقوق: CLOSED
رقم الأكسشن: edsair.doi.dedup.....e42061efd89bd408c4db7e7f30814b90
قاعدة البيانات: OpenAIRE
الوصف
تدمد:01655728
12990906