• locus
  • Significant evidence exists for a susceptibility locus on chromosome 10q [ 11 - 14 ], however, there are conflicting reports on its precise location and to date no clear association to an individual gene has been demonstrated. (beds.ac.uk)
  • Another meta-analysis of genome-wide detection also suggested that the p22-p21.1 of chromosome 8, namely the CLU chromosomal locus, was a LOAD-associated susceptibility region ( 8 ). (spandidos-publications.com)
  • 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)
  • 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)
  • risk
  • It is not known how the APOE e4 allele is related to the risk of Alzheimer disease. (nih.gov)
  • It is important to note that people with the APOE e4 allele inherit an increased risk of developing Alzheimer disease, not the disease itself. (nih.gov)
  • The APOE e2 allele has been shown to greatly increase the risk of a rare condition called hyperlipoproteinemia type III. (nih.gov)
  • 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)
  • Also covered are the influences of Mendelian traits and familial aggregation and the interactions and interrelationships between genetics and environmental factors which, when compared, provide a sound understanding of the interplay between inherited and acquired risk factors. (schweitzer-online.de)
  • 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)
  • 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)
  • Currently there are no examples of genetic screening for disease risk that satisfy these criteria. (pubmedcentralcanada.ca)
  • 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)
  • On the other hand, there are some cases in which genotypic information discriminates between subpopulations that differ markedly in disease risk. (pubmedcentralcanada.ca)
  • Studies in humans and mice have begun to reveal highly penetrant genetic factors that contribute to CHD susceptibility independent of traditional risk factors. (ahajournals.org)
  • 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)
  • 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)
  • protein
  • 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)
  • 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 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)
  • 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)
  • increases
  • The studies suggested that DD genotype and *D allele of LRPAP gene showed increased frequency for degenerative dementias on comparison with the control group and that LRPAP1-D allele remarkably increases the vulnerability to degenerative dementias. (wikipedia.org)
  • 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)
  • kuru
  • Kuru is so far the principal human epidemic prion disease. (royalsocietypublishing.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)
  • 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)
  • 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)
  • 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)
  • Parkinson's
  • E2 has also been implicated in Parkinson's disease, but this finding was not replicated in a larger population association study. (wikipedia.org)
  • common
  • The common haplotypes of HECTD2 , tagged by rs12249854 , are not associated with susceptibility to LOAD. (beds.ac.uk)
  • 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)
  • metabolism
  • In peripheral tissues, ApoE is primarily produced by the liver and macrophages, and mediates cholesterol metabolism. (wikipedia.org)