A Study of Promoter and Intronic Markers of ApoI/Fas Gene and the Interaction with Fas Ligand in Relapsing Multiple Sclerosis
| Autor: | Miguel Lucas, Amal Chadli, Luminita Dinca, Alzenira F. Costa, Guillermo Izquierdo, Francisca Solano, Marı́a D Zayas |
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| Rok vydání: | 2004 |
| Předmět: |
Adult
Male Fas Ligand Protein Genotype Population Glycine Single-nucleotide polymorphism Biology Polymorphism Single Nucleotide Linkage Disequilibrium Receptors Tumor Necrosis Factor Fas ligand Disability Evaluation Multiple Sclerosis Relapsing-Remitting Gene Frequency Humans SNP fas Receptor Allele Promoter Regions Genetic education Allele frequency Genetics education.field_of_study Alanine Membrane Glycoproteins Proteins Apolipoprotein L1 Fas receptor Introns Apolipoproteins Neurology Female Neurology (clinical) Lipoproteins HDL |
| Zdroj: | European Neurology. 52:12-17 |
| ISSN: | 1421-9913 0014-3022 |
| DOI: | 10.1159/000079253 |
| Popis: | We studied the association between multiple sclerosis (MS) and a novel single nucleotide polymorphism (SNP), A/T(735)G/C, localized in intron IV of the ApoI/Fas gene, which is recognized by the restrictase MaeI. Fas-MaeI genotypes were screened in chromosomes of 215 healthy individuals and 312 relapsing MS patients of Spanish extraction. We also analyzed the interaction of this new intragenic marker with others previously associated with MS: class II HLA-DRB1*1501, Fas-MvaI and Fas ligand. The distribution of Fas-MaeI genotypes was in equilibrium in the control cohort, while a significant disequilibrium was observed in the patient group (χ2 = 16; p = 0.0003). Fas-MaeI genotypes were statistically different in the MS and control groups, but the allele frequencies were not. Sharing of MvaI/MaeI genotypes of the promoter/intron IV region did not differ between patients and controls. We failed to find different frequencies of ApoI/Fas genotypes in the population of MS carriers of the class II HLA-DRB1*1501 allele. The case/control comparative study showed a relative risk (OR close to 1.6) of MS in individuals harboring the T and A alleles of Fas- MaeI and Fas ligand, respectively. In conclusion, our findings suggest a weak association between the intronic marker Fas-MaeI and MS and a relative interaction with Fas ligand in an MS cohort of South Spanish extraction. |
| Databáze: | OpenAIRE |
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