Identifying genetic factors predisposing to cerebrovascular disorders in the Italian population. (Abstract/Comunicazione in atti di convegno)

Type
Label
  • Identifying genetic factors predisposing to cerebrovascular disorders in the Italian population. (Abstract/Comunicazione in atti di convegno) (literal)
Anno
  • 2011-01-01T00:00:00+01:00 (literal)
Alternative label
  • Parolo S, Lisa A, Cavalli-Sforza LL, Parati EA, Barlera S, Di Blasio AM, Zei G, Boncoraglio GB, Bione S. (2011)
    Identifying genetic factors predisposing to cerebrovascular disorders in the Italian population.
    in Congresso Congiunto DGM-IGM, Pavia, 22-23 febbraio 2011
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Parolo S, Lisa A, Cavalli-Sforza LL, Parati EA, Barlera S, Di Blasio AM, Zei G, Boncoraglio GB, Bione S. (literal)
Note
  • Comunicazione (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Molecular Genetics, National Research Council, Pavia; Neurological Institute C. Besta, Milan; Mario Negri Institute for Pharmacological Research, Milan; Istituto Auxologico Italiano, Milan. (literal)
Titolo
  • Identifying genetic factors predisposing to cerebrovascular disorders in the Italian population. (literal)
Abstract
  • Stroke is the third most common cause of death and the major cause of adult neurological disability. Moreover, cerebrovascular diseases are an important cause of dementia and age-related cognitive decline, thus representing a major health issue. Cerebrovascular disorders, particularly ischemic stroke, are complex diseases in which several genetic variants interact with environmental factors to determine phenotypic manifestations. The identification of such genetic factors is essential to improve risk prediction and to gain insight into pathophysiological mechanisms and it will eventually allow the development of new therapeutic strategies (1). In collaboration with clinicians from the Neurological Institute C. Besta, we are studying an Italian cohort of patients affected by cerebrovascular disorders. A total of 712 cases have been recruited and genotyped on the Illumina platform for more than 600k SNPs on the whole genome, together with a total of 961 healthy individuals selected as controls. A genome-wide association study is now ongoing in order to validate previously recognized risk-factors and to identify new genetic determinants. Moreover, two studies are in progress to determine (i) the contribution of known risk variant for myocardial infarction in the etiology of ischemic stroke in collaboration with the International Stroke Genetic Consortium (ISGC) and (ii) the association of genetic variants at 9p21.3, a genomic region that has been involved in the pathogenesis of different kind of vascular disorders (2) in the Italian Cerebrovascular Cohort. (1) Unravelling the genetics of ischaemic stroke. Markus HS. PloS Med 2010: e1000225 (2) The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Helgadottir A et al. Nat Genet. 2008 Feb;40(2):217-24. (literal)
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