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  • strongly associated
  • In the combined analysis of all samples (710 father-mother-child trios, 239 cases and 107 controls), these SNPs were strongly associated with risk of Crohn's disease (P(combined) = 3.49 x 10(-9), odds ratio = 1.78, confidence interval = 1.47-2.16 for rs10733113), reaching a level consistent with the stringent significance thresholds imposed by whole-genome association studies. (ac.be)
  • autoimmune disease
  • Experimental allergic encephalomyelitis (EAE) 3 is an organ-specific autoimmune disease that can be readily induced in genetically susceptible strains of mice by injecting either whole spinal cord homogenate (SCH) or encephalitogenic proteins or peptides in adjuvants. (jimmunol.org)
  • populations
  • Cancer is a disease that affects the whole world, and one question that always arises is: is a given cancer type similar or different across populations? (bioquicknews.com)
  • Application of the canine system is particularly efficacious when multiple closely related breeds or pure breeding populations of the same breed exist, each with predisposition to the same disease and as such, are likely to segregate the same founder mutation ( 6, 7 , 8 ). (aacrjournals.org)
  • Our results emphasize that replication of disease association for specific rare genetic variants across diverged populations must overcome both reduced statistical power because of rarity and higher population divergence. (pnas.org)
  • describe
  • We describe a joint GWA study (using the Affymetrix GeneChip 500K Mapping Array Set) undertaken in the British population, which has examined ∼ 2,000 individuals for each of 7 major diseases and a shared set of ∼ 3,000 controls. (nature.com)
  • thus
  • Here, we establish a naturally occurring model of cancer susceptibility due to CDKN2 dysregulation, thus providing insight about this cancer-associated, complex, and poorly understood genomic region. (aacrjournals.org)
  • On the basis of prior findings and replication studies thus-far completed, almost all of these signals reflect genuine susceptibility effects. (nature.com)
  • contrast
  • In contrast, neither SpC from adjuvant-immunized BALB/cJ nor spinal cord homogenate- plus adjuvant-primed BALB/cByJ donors influences the incidence or severity of disease observed in recipients. (jimmunol.org)
  • association
  • The molecule, termed "THRIL," helps regulate the immune response and shows an association with Kawasaki disease. (bioquicknews.com)
  • Various challenges exist, however, in the exploration of CNV-disease association. (frontiersin.org)
  • To explore in a stochastic sense the association between the collapsing CNV variants and disease status, we utilize a Bayesian hierarchical model incorporating the mutation parameters. (frontiersin.org)
  • Linkage analysis failed to show an association of disease resistance with any of the known allelic differences that distinguish BALB/cJ mice ( 3 , 4 ). (jimmunol.org)
  • However, the length of a region found in association with a disease is usually very large because of linkage disequilibrium (LD). (springer.com)
  • Although case-control association studies are the most common, they have high type I errors because of population stratification (Spielman et al. (springer.com)
  • detection
  • Two common biotechnologies, polymerase chain reaction (PCR) based and array based technique, have been available for CNV detection. (frontiersin.org)
  • Therefore
  • Therefore, for exhaustive identification of CNPs associated with disease, probe density must be increased and the sensitivity of the analytical methods improved. (biomedcentral.com)
  • clinical
  • Learning is easy with the aid of clear, full-color illustrative diagrams, a wealth of clinical photographs of genetic diseases, multiple-choice and case-based review questions, end-of-chapter summaries, and convenient online access at www.studentconsult.com. (elsevier.com)
  • Visualize the appearance of genetic disorders with a fantastic art program that presents many clinical photos of genetic diseases, and work through complicated ideas with an array of full-color illustrative diagrams. (elsevier.com)
  • Common symptoms include abdominal pain and diarrhea, but the disorder is often associated with debilitating clinical complications. (bio-medicine.org)
  • In this context, biological outcomes can be defined as clinical diseases as well as relevant (preclinical) intermediate endpoints. (bmj.com)
  • 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)
  • patients
  • More recently, earlier diagnosis and advances in surgical techniques have resulted in decreased morbidity and mortality in patients with Hirschsprung disease. (medscape.com)
  • In patients with Hirschsprung disease, both myenteric and submucosal plexuses are absent. (medscape.com)
  • Paediatric patients often manifest more extensive disease and a particularly severe disease course. (bmj.com)
  • Many of the exploratory GWA studies were carried out on patients with a high genetic burden of the disease. (ahajournals.org)
  • biochemical
  • 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)
  • RESULTS
  • Although the SNPs in these four regions represent only a minor fraction of the common variations likely contributing to breast cancer risk, these results provide an example of the potential role such information may play in the development of strategies to improve patient care. (aacrjournals.org)
  • Cancer
  • The study, which appeared online on December 25, 2013 in Nature, addresses a public health concern of global significance: cervical cancer is the second most common cancer in women and is responsible for approximately 10 percent of cancer deaths in women - particularly in developing countries where screening methods are not readily accessible. (bioquicknews.com)
  • Almost all cases of the disease are caused by exposure to HPV and it is expected that vaccination efforts targeting HPV will decrease cervical cancer cases over time. (bioquicknews.com)
  • Dogs are particularly well suited to studies of malignancy ( 3 ) as cancer is the most frequent cause of disease-associated death in dogs, and naturally occurring cancers are well described in several breeds ( 4, 5 ). (aacrjournals.org)
  • We study body mass index and other anthropometric measures of obesity because these are heritable, readily measured polygenic risk factors for a number of serious diseases, including diabetes and cancer. (childrenshospital.org)
  • effects
  • As expected, the common variations within each of these regions demonstrate modest marginal effects, with allelic odds ratio estimates between 1.3 and 2.1. (aacrjournals.org)
  • Disorders
  • Examples of metabolic disorders include galactosemia , glycogen storage disease , lysosomal storage disorders , metabolic acidosis , peroxisomal disorders , phenylketonuria , and urea cycle disorders . (wikipedia.org)