RESUMEN
BACKGROUND: Synapsins are a family of neuron-specific phosphoproteins, one of whose subunits is encoded by the SYN3 gene. This gene is located close to one of the multiple sclerosis susceptibility regions (in 22q13.1). Two single-nucleotide polymorphisms (SNPs) (rs133945 and rs133946) in the promoter region of this gene have been proposed as factors protecting against MS. This relationship is not clear because another report failed to found such association. OBJECTIVES: In an attempt to clarify this association, the frequency of these SNPs was analyzed in a population of 221 Spanish MS patients with a cluster of 72 Basque patients and in 373 controls with a cluster of 138 controls of a Basque origin. METHODS: The SNis analysis was performed by 9 PCR. RESULTS: According to our findings, these SNPs are differently distributed in the two populations. This significant bias should therefore be taken into account in association studies. Our data suggest that the C/C genotype in rs133946 and the G/G genotype in rs133945 could be protecting factors against MS in the Basque population.
Asunto(s)
Etnicidad/genética , Esclerosis Múltiple Crónica Progresiva/genética , Esclerosis Múltiple Recurrente-Remitente/genética , Polimorfismo de Nucleótido Simple , Sinapsinas/genética , Adulto , Genotipo , Humanos , Persona de Mediana Edad , Esclerosis Múltiple Crónica Progresiva/etnología , Esclerosis Múltiple Recurrente-Remitente/etnología , Reacción en Cadena de la Polimerasa , Regiones Promotoras Genéticas/genética , España/epidemiologíaRESUMEN
In the actual scenario of the search for further genetic susceptibility factors, a recent paper noted an SNP in the UCP2 gene as a multiple sclerosis (MS) risk factor. UCP2 is a member of the mitochondrial proton transport family, which uncouples proton entry in the mitochondrial matrix from ATP synthesis. mtDNA haplogroups are also associated with ATP production, and are linked with mitochondrial proton transport. In this work, we studied the UCP2 SNP and the mitochondrial haplogroups distribution in a Spanish MS population, with a population sub-group of Basque-origin patients. Our results confirm the link between UCP2 SNP and MS, and show a slight relation between this SNP and mitochondrial haplogroups.
Asunto(s)
Canales Iónicos/genética , Mitocondrias Musculares/genética , Proteínas Mitocondriales/genética , Esclerosis Múltiple/genética , Polimorfismo de Nucleótido Simple , Adulto , Edad de Inicio , Etnicidad/genética , Humanos , Persona de Mediana Edad , Esclerosis Múltiple/epidemiología , Factores de Riesgo , España/epidemiología , Proteína Desacopladora 2RESUMEN
A number of association studies have explored the relationship between the CCR5-Delta32 allele and the risk of developing multiple sclerosis (MS), with varying results. In light of the results of several studies that have analyzed the role of the allele in MS, it has been proposed that the allele is involved in the etiopathogeny of the disease. Our study revealed a statistically significant difference between the study group and the control group for the carriers of at least one deleted allele (P = 0.027). The allele was more frequent in the control group, which suggests a possible protective effect of this deletion against MS. When ethnic origin was taken into account in the same analysis, we saw that the bulk of the difference was attributable to the Basque group, although the trend was also visible in the control group. Consideration of ethnic origin is therefore essential for the analysis of our sample. CCR5-Delta32 allele distribution was higher in the Basque control population than in the Basque MS population, which suggests that it confers a protective effect against MS. Relevant values were a P value of 0.008 and an odds ratio of 0.168 (95% confidence interval, 0.038 to 0.737).
Asunto(s)
Esclerosis Múltiple Crónica Progresiva/genética , Esclerosis Múltiple Recurrente-Remitente/genética , Esclerosis Múltiple/genética , Polimorfismo de Nucleótido Simple , Receptores CCR5/genética , Eliminación de Secuencia , Mapeo Cromosómico , Etnicidad , Genotipo , Humanos , Esclerosis Múltiple/epidemiología , Valores de Referencia , EspañaRESUMEN
The allele C in the CD24 gene has been related to multiple sclerosis (MS). In this work we check this single nucleotide polymorphism (SNP) in a population of 135 patients and 285 controls. Our results confirm the association between the V/V genotype at aa 57 of this gene and MS and highlight the importance of taking into account the origin of the subjects to avoid a population bias.