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  • genetics
  • It is most common in the U.S. among persons of Asian or African descent, but its genetics is complex and researchers have struggled to identify which gene variants and combinations cause some children to develop the disease. (ucsd.edu)
  • The analysis of whole genome sequence to understand disease genetics is only recently becoming a tool that is affordable and manageable due to new developments in computer science. (ucsd.edu)
  • Association of AD risk and AAO with genotyped and imputed SNPs located in an 800-Mb region including APOE in the entire Alzheimer's Disease Genetics Consortium data set and with the TOMM40 poly-T marker genotyped in a subset of 1256 cases and 1605 controls. (pubmedcentralcanada.ca)
  • This application of human genetics has proven insightful in those rare humans who are broadly susceptible to infections, where Mendelian genetic linkage approaches have revealed highly penetrant mutations that cause disease. (biomedcentral.com)
  • Autophagy
  • Analysis of pathophysiological conditions indicated that autophagy was substantially increased in glomeruli from mice with induced proteinuria and in glomeruli from patients with acquired proteinuric diseases. (jci.org)
  • Responses
  • In this commentary, we discuss how this technology development has led to increasingly complex and common infectious diseases being unraveled, and how this is starting to dissect pathogen-specific human responses. (biomedcentral.com)
  • SNPs
  • SNPs that correlate with specific diseases could serve as predictive biomarkers to aid the development of new drugs. (iran-daily.com)
  • Through the statistical analysis of GWAS summary data, it is possible to identify the disease-associated SNPs. (iran-daily.com)
  • Therefore, among tens of thousands of genomics data and hundreds of thousands of SNPs analyzed, the number of markers described within a candidate disease gene often reaches several tens. (iran-daily.com)
  • SNPs, which are one of the most common types of genetic variation among people, are tiny spelling changes in the DNA code that can affect a person's risk of developing a disease or alter a response to medications. (healthcanal.com)
  • These expression-associated SNPs (exSNPs) have already been utilized to explain some results of GWAS for diseases, but interpretation of the data is handicapped by low reproducibility of the genotype-expression relationships. (biomedcentral.com)
  • We integrated the current gold standard data with SNPs in disease-associated loci from the Wellcome Trust Case-Control Consortium (WTCCC) GWAS of seven common human diseases. (biomedcentral.com)
  • Homozygosity of FUT2 non-secretor alleles of the ancestry specific SNPs, rs601338 (Turkish) and rs1047781 (Japanese), showed strong disease association ( P =1.95×10 -11 ). (arvojournals.org)
  • novel
  • Understanding how most people successfully contain these infectious challenges may lead to the development of novel therapeutics for those individuals at risk of severe disease. (biomedcentral.com)
  • Alzheimer's
  • In a study looking at the association between apolipoprotein E gene variants and Alzheimer's disease, Farrer and colleagues* found that there was a strong association between the genetic variant epsilon4 ( APOE4 ), and the development of Alzheimer's disease. (phgfoundation.org)
  • Apolipoprotein E genotype in patients with Alzheimer's disease: implications for the risk of dementia among relatives. (phgfoundation.org)
  • Alzheimer's disease (AD) is a neurodegenerative disorder with progressive cognitive impairment. (spandidos-publications.com)
  • The well-known disease of Alzheimer's disease is often over-diagnosed. (rightdiagnosis.com)
  • Whereas this can, of course, occur due to various medical conditions, such as a stroke or Alzheimer's disease , it can also occur from a side effect or interaction between multiple drugs that the elderly patient may be taking. (rightdiagnosis.com)
  • cardiovascular
  • Our mission is to build healthier lives, free of cardiovascular diseases and stroke. (ahajournals.org)
  • The first chapter discussed atherosclerosis as a cardiovascular disease broadly. (frontiersin.org)
  • In addition, the global epidemiology of cardiovascular diseases was extensively discussed. (frontiersin.org)
  • We got drawn to the statement in chapter 2, stating that the underlying pathology of cardiovascular disease is atherosclerosis. (frontiersin.org)
  • In our opinion, it could have been better worded that, atherosclerosis is the major underlying pathology of cardiovascular disease. (frontiersin.org)
  • The striking thing about this book was that, despite the fact that it was written by different authors, they adopted similar framework and flow when addressing different aspects of cardiovascular diseases. (frontiersin.org)
  • The extent to which changes in gene expression can influence cardiovascular disease risk across different tissue types has not yet been systematically explored. (biomedcentral.com)
  • immune
  • Mice with CD2AP haploinsufficiency developed glomerular changes at 9 months of age and had increased susceptibility to glomerular injury by nephrotoxic antibodies or immune complexes. (sciencemag.org)
  • This can result in a compromised immune system and the development of various diseases. (cowsmo.com)
  • Intriguingly, these still preliminary findings suggest that pathogen innate detection mechanisms may not be as shared among diseases as immune response mechanisms. (biomedcentral.com)
  • findings
  • The findings could help scientists successfully reintroduce endangered amphibians into the wild by reducing the chance that the amphibians will be killed by diseases that may have played a role in the species' original declines. (phys.org)
  • GWAS
  • We then related these data to results from GWAS for diseases, to find a set of disease-associated loci that are likely to have an underlying expression mechanism. (biomedcentral.com)
  • Approximately one-third of these disease-associated loci in the WTCCC GWAS were found to be consistent with an underlying expression change mechanism. (biomedcentral.com)
  • We also replicated the disease association with genotyping and GWAS data from 608 Japanese cases and 737 controls. (arvojournals.org)
  • quantitative
  • Future studies which continue to uncover quantitative trait loci for molecular traits across various tissue and cell types will further improve our capability to understand and prevent disease. (biomedcentral.com)
  • mice
  • The pathology was similar to that seen in CD2AP-null mice before the development of severe kidney disease at ∼3 to 4 weeks of age. (sciencemag.org)
  • immunological
  • Effects of Rehmannia glutinosa on growth performance, immunological parameters and disease resistance to Aeromonas hydrophila in common carp ( Cyprinus carpio L.)," Aquaculture , vol. 435, pp. 293-300, 2015. (hindawi.com)
  • identify
  • With this algorithm, we can easily identify new drug targets, thereby deepening our understanding of diseases and unlock new therapies to treat it. (iran-daily.com)
  • Treatments
  • The research team also used mucus tests to determine how effective probiotic treatments would be at increasing amphibian defenses against disease in a range of environmental conditions and at a range of life stages. (phys.org)
  • pregnancy
  • However, during the second half of the 20th century, after radiography became available, it became clear that the extent of disease, radiographic pattern, and individual susceptibility were more important than pregnancy itself in determining the course and prognosis of the disease. (hindawi.com)