• phenotype
  • We now propose the first translational genetics study to focus upon the situation where mild early symptoms of a disease (phenotype) and known genetic marker (genotype) information can be used together to produce more imminent risk projections. (grantome.com)
  • The cohort has the specific feature to allow for future dedicated recall studies based on baseline phenotype and genotype. (deepdyve.com)
  • These disorders show a significant degree of heritability and disease pathogenesis that rely on the combination of a multitude of unfavourable genotypes on which over-nutrition, lack of physical exercise, obesity and smoking augment the phenotype. (deepdyve.com)
  • Therefore, based on the information gathered during a baseline visit, 'recruit-by-genotype' (RbG) and 'recruit-by-phenotype' (RbP) projects allow for detailed investigations of associations between genotypes and biomarkers, or monitoring of more detailed physiological processes. (deepdyve.com)
  • variants
  • APOE gene variants have also been studied as a potential risk factor for age-related macular degeneration, an eye disease that is a leading cause of vision loss among older people worldwide. (nih.gov)
  • More research is needed to clarify what role, if any, APOE gene variants play in the development of age-related macular degeneration. (nih.gov)
  • Admixture mapping (mapping by admixture linkage disequilibrium-MALD): An association-based approach to localizing disease-causing variants that differ in frequency between two historically separated populations by a whole-genome scan. (tripod.com)
  • Behavior
  • Finally, we propose to systematically study the long-term psychological impact and health behavior changes in participants who learned their APOE genotype in earlier cycles of the REVEAL Study, some of whom were enrolled as early as 2000. (grantome.com)
  • Public Health Relevance: REVEAL IV Project Narrative: In this continuation of the REVEAL Study, we will conduct a new randomized clinical trial to determine the psychological and health behavior changes associated with disclosing APOE genotype and 3-year risk estimates to persons with mild memory problems. (grantome.com)
  • genome-wide as
  • SNPs' greatest importance in biomedical research is for comparing regions of the genome between cohorts (such as with matched cohorts with and without a disease) in genome-wide association studies. (wikipedia.org)
  • receptors
  • APOE is transcriptionally activated by the liver X receptor (an important regulator of cholesterol, fatty acid, and glucose homeostasis) and peroxisome proliferator-activated receptor γ, nuclear receptors that form heterodimers with retinoid X receptors. (wikipedia.org)
  • In the nervous system, non-neuronal cell types, most notably astroglia and microglia, are the primary producers of APOE, while neurons preferentially express the receptors for APOE. (wikipedia.org)
  • There are seven currently identified mammalian receptors for APOE which belong to the evolutionarily conserved LDLR family. (wikipedia.org)
  • coronary heart d
  • Studies of genomic prediction of coronary heart disease and cardiovascular events have also found that genotypic information is less predictive of disease risk than are age, blood pressure, cholesterol, triglycerides, cigarette use, and diabetes , . (pubmedcentralcanada.ca)
  • Knowledge of genetic factors in the etiology of coronary heart disease has not so far been adequately utilized in attempts to combat premature CHD. (ahajournals.org)
  • The optimistic predictions of the impact of genetics on the diagnosis and prevention of coronary heart disease (CHD) have not been realized, and whether DNA testing will be incorporated into clinical cardiology practice in the next decades is unclear. (ahajournals.org)
  • protective
  • CCR5 deficiency is not protective in the early stages of atherogenesis in apoE knockout mice. (jax.org)
  • exons
  • The APOE gene consists of four exons and three introns, totaling 3597 base pairs. (wikipedia.org)
  • We have followed-up on the recent genome-wide association (GWA) of the clusterin gene ( CLU) with increased risk for Alzheimer disease (AD), by performing an unbiased resequencing of all CLU coding exons and regulatory regions in an extended Flanders-Belgian cohort of Caucasian AD patients and control individuals ( n = 1930). (pubmedcentralcanada.ca)
  • genomic
  • See also Grosse & Khoury, 2006 for the clinical utility of genetic testing, Offit, 2008 for issues surrounding genomic disease profiling, and Pharoah, 2008 for the possible utility of genomic profiling in breast cancer risk assessment. (tripod.com)
  • diseases
  • Many predicted that whole populations would be screened for their genetic susceptibility to common diseases, such as cancer and heart disease. (pubmedcentralcanada.ca)
  • The animal prion diseases include scrapie, a naturally occurring disease affecting sheep and goats, that has been recognized for over 200 years and is present in many countries worldwide, and the much more recently recognized bovine spongiform encephalopathy (BSE) among cattle. (royalsocietypublishing.org)
  • The human prion diseases have been traditionally classified into Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler syndrome, fatal familial insomnia and kuru. (royalsocietypublishing.org)
  • The OBB serves as a resource for researchers to investigate mechanisms leading to increased T2D and CVD susceptibility and to explore novel therapeutic targets in the prevention and treatment of chronic non-communicable diseases. (deepdyve.com)
  • carrier
  • ApoE is the principal cholesterol carrier in the brain. (wikipedia.org)
  • No significant effects emerged when the data were adjusted for age, sex, or apoE ε4 carrier status. (bmj.com)
  • common
  • Cholesterol gallstone disease (GD) is the major manifestation of gallbladder disease, and is one of the most common digestive disorders worldwide, especially in Western populations[ 1 ]. (pubmedcentralcanada.ca)
  • Ronald Krauss (San Francisco, CA) gave insights in the genetics of the more common forms of IRS based on the understanding of the complex topic of dyslipidemia. (diabetesjournals.org)
  • symptoms
  • As the disease advances, symptoms can include problems with language, disorientation (including easily getting lost), mood swings, loss of motivation, not managing self care, and behavioural issues. (wikipedia.org)
  • prevention
  • In the 1990s, during the era of the Human Genome Project, many researchers were very optimistic about the capacity of such large-scale genetic projects to revolutionize the prevention of disease (e.g., , ). (pubmedcentralcanada.ca)
  • dietary
  • Individuals with an E2/E2 combination may clear dietary fat slowly and be at greater risk for early vascular disease and the genetic disorder type III hyperlipoproteinemia-94.4% of such patients are E2/E2, while only ∼2% of E2/E2 develop the disease, so other environmental and genetic factors are likely to be involved (such as cholesterol in the diet and age). (wikipedia.org)
  • While its incidence has steadily declined since the cessation of its route of transmission, endocannibalism, in Papua New Guinea in the 1950s, the arrival of variant Creutzfeldt-Jakob disease (vCJD), also thought to be transmitted by dietary prion exposure, has given kuru a new global relevance. (royalsocietypublishing.org)
  • Parkinson's
  • Pubmed ID: 15345691 Alpha-synuclein (alpha-syn) is a 140-amino acid presinaptic protein whose mutations A30P and A53T have been linked to familiar Parkinson's disease (PD). (jove.com)
  • E2 has also been implicated in Parkinson's disease, but this finding was not replicated in a larger population association study. (wikipedia.org)
  • Effects
  • In these patients, the mean clinical duration of 17 months was longer than the overall average in kuru but similar to that previously reported for the same age group, and this may relate to the effects of both patient age and PRNP codon 129 genotype. (royalsocietypublishing.org)
  • insights
  • Perhaps most important, genetic studies are leading to many insights into disease mechanisms, and these studies, along with biochemical approaches, are pointing to new therapeutic concepts and treatments. (ahajournals.org)
  • researchers
  • Most people with this disorder have two copies of the APOE e2 allele, leading researchers to conclude that the e2 allele plays a critical role in the development of the condition. (nih.gov)
  • Despite these limitations, many researchers continue to advocate the use of genetic information to predict disease risk (e.g., ) and a number of private companies now offer this as a service on an individual basis. (pubmedcentralcanada.ca)
  • cholesterol
  • In peripheral tissues, ApoE is primarily produced by the liver and macrophages, and mediates cholesterol metabolism. (wikipedia.org)
  • APOE transports lipoproteins, fat-soluble vitamins, and cholesterol into the lymph system and then into the blood. (wikipedia.org)
  • individuals
  • Large and medium LDL comprise the most abundant species in plasma of the most healthy individuals, but there are two forms of small LDL, exhibiting reduced receptor binding, greater endothelial transport, greater arterial proteoglycan binding, and greater susceptibility to oxidation. (diabetesjournals.org)
  • isoform
  • The disease-related replicating isoform PrP Sc is derived from its normal cellular precursor (PrP C ) by a post-translational process that involves conformational change and aggregation. (royalsocietypublishing.org)