5 documents found, page 1 of 1
Genetic Variants Underlying Risk of Intracranial Aneurysms: Insights from a GWA...
Abrantes, Patrícia; Santos, Maria M.; Sousa, Inês; Xavier, Joana M.; Francisco, Vânia; Krug, Tiago; Sobral, João; Matos, Mafalda; Martins, MadalenaSubarachnoid hemorrhage (SAH) is a life-threatening event that most frequently leads to severe disability and death. Its most frequent cause is the rupture of a saccular intracranial aneurysm (IA), which is a blood vessel dilation caused by disease or weakening of the vessel wall. Although the genetic contribution to IA is well established, to date no single gene has been unequivocally identified as responsible...
Gene expression profiling and association studies implicate the neuregulin sign...
Xavier, Joana M; Krug, Tiago; Davatchi, Fereydoun; Shahram, Farhad; Fonseca, Benedita V.; Jesus, Gorete; Barcelos, Filipe; Vedes, Joana; Salgado, ManuelBehçet's disease (BD) is a complex disease with genetic and environmental risk factors implicated in its etiology; however, its pathophysiology is poorly understood. To decipher BD's genetic underpinnings, we combined gene expression profiling with pathway analysis and association studies. We compared the gene expression profiles in peripheral blood mononuclear cells (PBMCs) of 15 patients and 14 matched contro...
Variants in the inflammatory IL6 and MPO genes modulate stroke susceptibility t...
Manso, Helena; Krug, Tiago; Sobral, João; Albergaria, Isabel; Gaspar, Gisela; Ferro, José M.; Oliveira, Sofia A.; Vicente, A.M.There is substantial evidence that inflammation within the central nervous system contributes to stroke risk and recovery. Inflammatory conditions increase stroke risk, and the inflammatory response is of major importance in recovery and healing processes after stroke. We investigated the role of inflammatory genes IL1B, IL6, MPO, and TNF in stroke susceptibility and recovery in a population sample of 672 patie...
Association of a genetic variant in the ALOX5AP with higher risk of ischemic st...
Domingues-Montanarie, Sophie; Fernández-Cadenas, Israel; Rio-Espinola, Alberto del; Corbeto, Natalia; Krug, Tiago; Manso, Helena; Gouveia, LilianaBackground: Variants in the 5-lipoxygenase-activating protein (ALOX5AP) and phosphodiesterase 4D (PDE4D) genes have first been associated with ischemic stroke (IS) through whole-genome linkage screens. However, association studies obtained conflicting results. We aimed to investigate the contribution of selected single nucleotide polymorphisms (SNPs) in these genes for the first time in a large Iberian populati...
Mitochondrial haplogroup H1 is protective for ischemic stroke in portuguese pat...
Rosa, Alexandra; Fonseca, Benedita V.; Krug, Tiago; Manso, Helena; Gouveia, Liliana; Albergaria, Isabel; Gaspar, Gisela; Correia, ManuelBackground: The genetic contribution to stroke is well established but it has proven difficult to identify the genes and the disease-associated alleles mediating this effect, possibly because only nuclear genes have been intensely investigated so far. Mitochondrial DNA (mtDNA) has been implicated in several disorders having stroke as one of its clinical manifestations. The aim of this case-control study was to ...