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Ulcerative colitis is under dual (Mitochondrial and Nuclear) genetic control
Rosa, Alexandra; Abrantes, Patrícia; Sousa, Inês; Francisco, Vânia; Santos, Patrícia; Francisco, David; M Xavier, Joana; Oliveira, Sofia A.Background: Cellular oxidative stress and genetic susceptibility have been implicated in the multifactorial etiology of ulcerative colitis (UC). The nuclear genome association with UC has been intensely investigated, but the role of the mitochondrial DNA (mtDNA) has received far less attention and may account for part of the missing heritability. This study is a comprehensive analysis of the mtDNA contribution ...
Ulcerative colitis is under dual (mitochondrial and nuclear) genetic control
Rosa, Alexandra; Abrantes, Patrícia; Sousa, Inês; Francisco, Vânia; Santos, Patrícia; Francisco, David; Xavier, Joana M.; Oliveira, Sofia A.Background: Cellular oxidative stress and genetic susceptibility have been implicated in the multifactorial etiology of ulcerative colitis (UC). The nuclear genome association with UC has been intensely investigated, but the role of the mitochondrial DNA (mtDNA) has received far less attention and may account for part of the missing heritability. This study is a comprehensive analysis of the mtDNA contribution ...
Mitochondrial genome association study with peripheral arterial disease and ven...
Abrantes, Patrícia; Rosa, Alexandra; Francisco, Vânia; Sousa, Inês; Xavier, Joana M.; Oliveira, Sofia A.Background and aims: Peripheral arterial disease (PAD) and venous thromboembolism (VTE) are vascular traits sharing common modifiable and non-modifiable risk factors. These vascular pathologies have known nuclear-encoded genetic risk factors and the mitochondrial DNA may account for part of the missing heritability. To determine if PAD and VTE have a dual genetic control (mitochondrial and nu clear), we hereby ...
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...
Characterization of the major histocompatibility complex locus association with...
Xavier, Joana M; Davatchi, Fereydoun; Abade, Olga; Shahram, Farhad; Francisco, Vânia; Abdollahi, Bahar Sadeghi; Trindade, Hélder; Nadji, AbdolhadiIntroduction: The aim of this study was to characterize the association of human leukocyte antigen (HLA) B alleles and major histocompatibility complex (MHC) single nucleotide polymorphisms (SNPs) with Behçet's disease (BD) in an Iranian dataset. Methods: The association of three SNPs in the MHC region previously identified as the most associated in high-density genotyping studies was tested in a case-control s...
Cardiovascular risk profile of high school students : a cross-sectional study
Rocha, Teresa; Rocha, Evangelista; Alves, Ana Catarina; Medeiros, Ana Margarida; Francisco, Vânia; Silva, Sónia; Gaspar, Isabel Mendes; Rato, QuitériaDisease prevention should begin in childhood and lifestyles are important riskdeterminants of cardiovascular disease. Awareness and monitoring of risk is essential in pre-ventive strategies.Aim: To characterize cardiovascular risk and the relationships between certain variables in adolescents.Methods: In a cross-sectional study, 854 adolescent schoolchildren were surveyed, mean age16.3±0.9 years. Data collectio...
Facts related to the collection of biological samples in the National Health Ex...
Silva, Marta Barreto da; Francisco, Vânia; Rasteiro, Paula; Sousa, Eduardo; Vicente, A.M.; Bourbon, Mafalda; Martins, Fátima; Seixas, Maria TeresaThe objective of the National Health Examination Survey (NHES), which corresponds to the Portuguese component of the European Health Examination Survey (EHES), is to collect health data, related risk factors and biological samples of the Portuguese population, using the EHES recommended methodology. These surveys involve an interview, clinical and physical measurements and blood collection. In this context, we ...
Biochemical and genetic evaluation of dyslipidemia in a population sample from ...
Francisco, Vânia; Barreto da Silva, Marta; Alves, Catarina; Rasteiro, Paula; Sousa, Eduardo; Vicente, A.M.; Gil, Ana PaulaDyslipidemia is an important cardiovascular risk factor and represent a serious public health problem in our society. The causes of dyslipidemia can be environmental, genetic or as a consequence of other conditions. The prevalence of this risk factor has not been determined in our population and a national epidemiologic study of prevalence of cardiovascular risk factors, is being conducted. In the scope of this...