• genes
  • Additionally, we show that C9orf72 appears to be the only gene in the 9p21.2 locus that is regulated in cis, showing the potential of this approach in identifying causative genes in association loci in ALS. (sussex.ac.uk)
  • These efforts provide new insights into how genomic variants - inherited spelling differences in the DNA code - control how, when and how much genes are turned on and off in different tissues, and can predispose people to diseases such as cancer, heart disease and diabetes. (eurekalert.org)
  • GTEx was designed to sample as many tissues as possible from a large number of individuals in order to understand the causal effects of genes and variants, and which tissues contribute to predisposition to disease," said Emmanouil Dermitzakis, Ph.D., professor of genetics at the University of Geneva Faculty of Medicine, Switzerland, and a corresponding author on the main Science paper. (eurekalert.org)
  • Genome-wide association studies (GWAS), although efficient to detect genes involved in complex diseases, are not designed to measure the real effect of the genes. (jove.com)
  • Establishing a valid modeling of a disease gene is essential to test its potential interaction with other genes and to reconstruct the pathophysiological pathways. (jove.com)
  • Expression of a subgroup of genes, possibly linked to the disease phenotype, and minor intron splicing were affected in cell lines derived from TALS patients. (jove.com)
  • Multiple genetic loci, including 10q, have been implicated in LOAD but to date, with the exception of APOE , the underlying genes have not been identified. (biomedcentral.com)
  • Multiple genes account for its moderate heritability, but the only genetic region shown to have a large replicable effect on MS susceptibility is the major histocompatibility complex (MHC). (paperity.org)
  • All of these genes together still only account for 10% of the total genetic component of the disease. (wikipedia.org)
  • To locate genes and loci that are responsible for the risk of type 2 diabetes, genome wide association studies (GWAS) was utilized to compare the genomes of diabetic patient group and the non-diabetic control group. (wikipedia.org)
  • The diabetic patients' genome sequences differ from the controls' genome in specific loci along and around numerous genes, and these differences in the nucleotide sequences alter phenotypic traits that exhibit increased susceptibility to the diabetes. (wikipedia.org)
  • Most SNPs that increase the risk of diabetes reside in noncoding regions of the genes, making the SNP's mechanism for increasing susceptibility largely unknown. (wikipedia.org)
  • Another example of faulty gene regulation that influence the susceptibility is the SNPs in promoter regions of the genes. (wikipedia.org)
  • It is important to note that those discovered genes do not determine susceptibility to diabetes for all people or cases. (wikipedia.org)
  • As the risk of diabetes is combination of the gene regulations and the interplay between those gene products, certain genes may not pose a threat to increase the susceptibility. (wikipedia.org)
  • TCF7L2 is one of the well-studied genes for diabetes susceptibility in most populations. (wikipedia.org)
  • Neurons
  • The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord, leading to paralysis of voluntary muscles. (genome.jp)
  • 1 The neurodegenerative changes, associated with Lewy bodies in the surviving neurons, are centred on the substantia nigra, locus ceruleus, nucleus basalis, cranial nerve motor nuclei, hypothalamus, cerebral cortex, and autonomic nervous system. (bmj.com)
  • autoimmune
  • Lastly, autoimmune disease patients with SLE, Sjogren's syndrome and rheumatoid arthritis (RA) predominantly exhibit circulating proteasomes which can be applied as clinical biomarkers. (wikipedia.org)
  • SNPs
  • They also found two SNPs in a second complement-related locus, this one containing the gene for complement component 1 and complement factor B (C2/CFB). (alzforum.org)
  • In this study, led by first author Mingyao Li, no single SNP accounted for disease susceptibility, but instead they found multiple SNPs making up four common haplotypes, two associated with increased risk, and two that were protective. (alzforum.org)
  • These SNPs in ORFs result in altering of the protein function, and the altered function and therefore compromise the performances of the protein product causes increased susceptibility to the type 2 diabetes. (wikipedia.org)
  • One of the examples of gene regulation in non-ORF SNPs that influences susceptibility is the changes in nucleotide sequence in microRNA (miRNA) binding site. (wikipedia.org)
  • However, SNPs in TCF7L2 that would normally increase the risk of diabetes does not affect the susceptibility for Pima Indians. (wikipedia.org)
  • genomic
  • The genomic architecture in the region spanning the MAPT locus contains a ~1.8 Mb block of linkage disequilibrium characterized by two major haplotypes: H1 and H2. (biochemsoctrans.org)
  • Delineation of underlying genomic and genetic factors in a specific disease may be valuable in establishing a definitive diagnosis and may guide patient management and counseling. (frontiersin.org)
  • Researchers funded by the National Institutes of Health Genotype-Tissue Expression (GTEx) project have created a new and much-anticipated data resource to help establish how differences in an individual's genomic make-up can affect gene activity and contribute to disease. (eurekalert.org)
  • NIH launched the GTEx Project in 2010 to create a data resource and tissue bank for scientists to study how genomic variants may affect gene activity and disease susceptibility. (eurekalert.org)
  • It is a far cry from detecting a signal indicating the presence of a causative factor in a genomic region to its identification and the important task of estimating the disease risk due to it. (jove.com)
  • protein
  • Unexpectedly, the strongest disease association they found within the CFH gene was not the previously observed Y402H SNP, but an intronic SNP that did not affect protein sequence. (alzforum.org)
  • Alleles that change a gene's expression level without altering protein structure have been implicated in several other neurodegenerative diseases, revealing an increasing role for regulatory polymorphisms (see ARF related news story ). (alzforum.org)
  • Our results show that dissection of complex disease susceptibility loci will be a challenging process and that identification of strongly associated alleles, even when they are protein coding, should not preclude further detailed genetic analysis," write Abecasis and Swaroop. (alzforum.org)
  • However, how loss of function of the parkin protein leads to dopaminergic cell death in this disease is unclear. (wikipedia.org)
  • The role of the SNCA gene is significant in PD because the alpha-synuclein protein is the main component of Lewy bodies, which appear as a primary biomarker in the disease. (wikipedia.org)
  • Rare fragile sites can lead to genetic disease such as fragile X mental retardation syndrome, myotonic dystrophy, Friedrich's ataxia, and Huntington's disease, most of which are caused by expansion of repeats at the DNA, RNA, or protein level. (wikipedia.org)
  • linkage
  • Additionally, a number of linkage studies have defined susceptibility regions for AD, two of which are located on chromosomal regions 10q22-24 and 12p13-q13. (tum.de)
  • biological
  • By generating unique spectral signatures for various disease associated forms of these proteins, we hope to use this technology to probe biological fluids for biomarkers of early disease. (southampton.ac.uk)
  • syndrome
  • A major role of genetic factors in the risk of developing restless legs syndrome (RLS) is supported by the high frequency of positive family history of RLS in patients affected with this disease, and the higher concordance rates in monozygotic twins compared with dizygotic ones in twin studies. (readbyqxmd.com)
  • Our results reveal the involvement of DSCAM as a HSCR susceptibility locus, both in Down syndrome and HSCR isolated cases. (jove.com)
  • genetic association
  • A role for the complement cascade was not suspected in the disease until the genetic association was made, but since then much work has cemented the idea that the macula is destroyed by complement-stimulated inflammatory and/or angiogenic processes. (alzforum.org)
  • Mutations
  • Mutations in GBA are known to cause Gaucher's disease. (wikipedia.org)
  • The current hE3 structures show directly that the disease-causing mutations occur at three locations in the human enzyme: the dimer interface, the active site, and the FAD and NAD(+)-binding sites. (wikipedia.org)
  • common
  • Determining genetic risk is an exceedingly complicated proposition, the study indicates, and finding all the risk alleles for common diseases will likely involve a thorough analysis of hundreds or thousands of cases. (alzforum.org)
  • The common haplotypes of HECTD2 , tagged by rs12249854 , are not associated with susceptibility to LOAD. (biomedcentral.com)
  • Advances
  • 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)
  • role
  • Surprisingly, in comparison to similar studies of individuals of European descent, the MHC seems to play a smaller role in MS susceptibility in African Americans, consistent with pervasive genetic heterogeneity across ancestral groups, and may explain the difference in MS susceptibility between African Americans and individuals of European descent. (paperity.org)
  • amyloid
  • In parallel we seek to investigate how these changes contribute to development of Alzhiemer's disease by studying their interaction with both tau and amyloid pathologies and phenotypes. (southampton.ac.uk)
  • human diseases
  • Capabilities for characterizing human DNA sequence variations, including sequence variations that led to human diseases were thus facilitated. (frontiersin.org)
  • In this review, we focus on the rapidly advancing field of circRNAs that play a part in human diseases. (bmj.com)
  • and consider the possible use of current and potential circRNA research applications in treating human diseases. (bmj.com)
  • Responses
  • 3 Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD) and Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany. (jci.org)
  • specific
  • Some of the databases search for circRNAs that are involved in a specific process or disease (eg, cancer). (bmj.com)
  • The Proteasome and its subunits are of clinical significance for at least two reasons: (1) a compromised complex assembly or a dysfunctional proteasome can be associated with the underlying pathophysiology of specific diseases, and (2) they can be exploited as drug targets for therapeutic interventions. (wikipedia.org)