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Genetic epidemiology of multiple sclerosis

Uría DF.

Servicio de Neurología. Hospital San Agustín. Avilés, Asturias, España. This e-mail address is being protected from spambots. You need JavaScript enabled to view it



INTRODUCTION: Although multiple sclerosis (EM) has the characteristics of a disorder which is complex to study epidemiologically, many papers have been published on its genetic epidemiology, and these have given a great deal of information regarding the aetiological factors of the disorder.

METHOD: These epidemiological investigations have also studied the incidence and prevalence of EM in each zone, the different geographical distribution, its variation with immigration, relation to race and sex, the existence of possible epidemics or groups and its family aggregation. They have supported the environmental aetiological factor of EM, the geographical gradient of the frequency, possible epidemics or groups, changes with migrations and concordance in identical twins of less than 100%. However, arguments in favour of a genetic aetiological factor have been supported by racial differences in the frequency of this disorder, the existence of resistant ethnic groups in spite of the migrations and the increased concordance in monozygotic twins.

CONCLUSION: The results of studies on the genetic epidemiology of EM support the multifactorial nature of its aetiology, with a polygenic type of genetic susceptibility, although this alone does not justify the development of EM. Some environmental factor, as yet unknown, is necessary for the disease to develop in a genetically susceptible person. Molecular genetic studies are adding further knowledge about this genetic susceptibility, although the genes involved have not yet been conclusively identified because of the complexity of EM.

Rev Neurol. 2002 Nov 16-30;35(10):979-84.




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Desde el pasado 20 de marzo el Registro EPIDEMCAT permite introducir pacientes prevalentes, es decir, aquellos con inicio de los síntomas antes de 2009 para las formas en brotes y antes del 2006 para las fomas de inicio progresivo. De esta forma, el Registro será completo, permitiendo conocer el impacto global de la enfermedad en Catalunya. Para facilitar la identificación de los pacientes, se ha sustituído la calve identificativa DNI por el CIP.

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El pasado mes de octubre de 2012 se celebró una reunión de trabajo con los participantes en el Registro con una doble finalidad: dar a conocer los datos trascurridos 3 años de funcionamiento y explorar opciones de mejora y expansión del registro. Para más información consultar acta reunión.

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By january 2012, The MS Registry of Catalonia includes over 600 patients.

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An European Registry of MS (EUReMS) is starting. The European Multiple Sclerosis Platform (EMSP) is coordinating the project EUReMS, carried out by a multidisciplinary team and funded from the European Commission. The CEM-Cat has been selected by the European Multiple Sclerosis Platform as one of the centers participating in the project. Learn more.

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