• 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)
  • disorders
  • Hirschsprung disease (HSCR) genetics is a paradigm for the study and understanding of multigenic disorders. (jove.com)
  • Developmentally, reduced lysyl oxidase levels have been implicated in Menkes disease and Occipital horn syndrome, two X-linked recessive disorders characterized by a mutation in a gene for copper transportation. (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)
  • 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)
  • 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)
  • populations
  • Methods: We first sought to identify genetic associations with white matter hyperintensities in a stroke population, and then examined whether genetic loci previously linked to WMHV in community populations are also associated in stroke patients. (kcl.ac.uk)
  • 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)
  • 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)
  • 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)
  • 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)
  • 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)
  • novel
  • 5 × 10 − 8 , including replication of 3 loci from previous studies and 2 novel loci at 6p21.1 and 12p12.1 (near RUNX2 and SLCO1A2 , respectively). (springer.com)
  • molecular
  • 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)
  • 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)
  • complex
  • 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)
  • 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)