• haplotypes
  • This haplotype can generally be extended from A- to -DQ as A29-Cw16-B44-DR7-DQ2.2: A*2901 : Cw*1601 : B*4403 : DRB1*0701 : DQA1*0201 : DQB1*0202 And, the Cw16 component is in strong linkage disequilibrium with the DR7-DQ2.2 component suggesting that since the haplotypes introduction into Europe there has not been adequate time for equilibration, supporting its recent introduction into Europe. (wikipedia.org)
  • This particular haplotype supports theories of migration that are more numerous than those supported by mtDNA or Y chromosomal information, many such 'smaller' migrations are evident with HLA haplotypes, suggesting a much greater complexity to human population than haploid loci make evident. (wikipedia.org)
  • DRB4 locus is only apparent in a small subset of DQ haplotypes, and most individuals lack DRB4. (wikipedia.org)
  • The length of the haplotype is remarkable because of the rapid rate of evolution at the HLA locus should degrade such long haplotypes. (wikipedia.org)
  • In the US Caucasians, 57% of haplotypes with a core component, Cw7-B8, extend from HLA-A1 locus to DQ2 locus. (wikipedia.org)
  • In addition, there are several HLA-A*02 haplotypes that appear to contribute heavily to higher or lower viral loads in HIV patients. (wikipedia.org)
  • It provides the genomic sequences and gene annotation of 8 different HLA-homozygous typing haplotypes (listed below), their resulting variations (see Data below) and ancestral relationships. (ucl.ac.uk)
  • The table below lists the eight cell lines used in the project along with their HLA haplotypes and alleles. (ucl.ac.uk)
  • MHC population studies The work group studies examining different diabetic populations throughout the world u n d e r s c o r e d the complexities involved in correlating HLA haplotypes with Type 1 diabetes. (paperity.org)
  • We demonstrated that many of the alleles that have been associated with liver injury induced by structurally diverse drugs (flucloxacillin, co-amoxiclav, ximelagatran, lapatinib, lumiracoxib) reside on common HLA haplotypes, which were present in populations of diverse ethnicity. (biomedcentral.com)
  • DRB1
  • The DRB4*locus was apparently duplicated from an ancestor of the DRB1-DRB4 common locus around 5 million years ago. (wikipedia.org)
  • HLA DR3-DQ2 is the serotypic representation of a HLA-DRB1:DQA1:DQB1 cis-chromosomal haplotype on human 6p21.3 in a region known as the HLA complex. (wikipedia.org)
  • The specific nomenclature for this type is: A*3301 : C*0802 : B*1402 : DRB1*0102 : DQA1*0102 : DQB1*0501 This haplotype appears to precede A33-B58 in Asia, bringing with it the DR7-DQ2 haplotype. (wikipedia.org)
  • The first haplotype is A33-Cw14-B44-DR13-DQ6.4 A*3303 : C*1403 : B*4403 : DRB1*1302 : DQA1*0102 : DQB1*0604 : DPB1*0401 This haplotype is found in Japan and Korea, and it is the most common 5 locus HLA type in Korea, high at 4.2%, 25 times higher than in China. (wikipedia.org)
  • The Protective Role of HLA-DRB1(∗)13 in Autoimmune Diseases. (blogspot.com)
  • We genotyped for HLA-DRB1 locus 1228 patients with AIDs-213 with Systemic Lupus Erythematosus (SLE), 166 with Psoriasis or Psoriatic Arthritis (Ps + PsA), 153 with Rheumatoid Arthritis (RA), 67 with Systemic Sclerosis (SSc), 536 with Multiple Sclerosis (MS), and 93 with Myasthenia Gravis (MG) and 282 unrelated controls. (blogspot.com)
  • We confirmed previously established associations of HLA-DRB1(∗)15 (OR = 2.17) and HLA-DRB1(∗)03 (OR = 1.81) alleles with MS, HLA-DRB1(∗)03 with SLE (OR = 2.49), HLA-DRB1(∗)01 (OR = 1.79) and HLA-DRB1(∗)04 (OR = 2.81) with RA, HLA-DRB1(∗)07 with Ps + PsA (OR = 1.79), HLA-DRB1(∗)01 (OR = 2.28) and HLA-DRB1(∗)08 (OR = 3.01) with SSc, and HLA-DRB1(∗)03 with MG (OR = 2.98). (blogspot.com)
  • HLA-DRB1(∗)13 frequency in the AIDs group was 20.0% (OR = 0.58). (blogspot.com)
  • Although different alleles were associated with particular AIDs, the same allele, HLA-DRB1(∗)13, was underrepresented in all of the six diseases analysed. (blogspot.com)
  • The protective effect of HLA-DRB1(∗)13 could be explained by a more proficient antigen presentation by these molecules, favouring efficient clonal deletion during thymic selection. (blogspot.com)
  • We know that HLA-DR2 (serotype) or HLA-DRB1*1501 (geneotype) is the major susceptibility allele for MS. I bet we at Barts don't do this as a regular check. (blogspot.com)
  • This paper summarizes our experience with a search algorithm that includes at the start of the search a probability estimate (high/intermediate/low) to identify a HLA-A, B, C, DRB1, DQB1-compatible donor (a 10/10 match). (hindawi.com)
  • Matching for HLA-A, B, C, DRB1, and DQB1 alleles, a so-called 10/10 match [ 1 - 3 ], and more recently for HLA-DPB1 [ 2 , 4 , 5 ], has been shown to decrease the risk of acute graft-versus-host disease (aGVHD) and mortality after HSCT. (hindawi.com)
  • In 2002 we have introduced at the very start of the search an estimation of the probability to identify a perfectly matched donor, that is, compatible for the HLA-A, B, C, DRB1/B3/B5, and DQB1 loci. (hindawi.com)
  • linkage
  • The DR3-DQ2 haplotype is notable because of the very strong linkage between genes that extends into the HLA-A, -B and -C regions of the HLA gene complex in northern and northwestern Europe. (wikipedia.org)
  • The linked haplotype is HLA A1-B8-DR3-DQ2 (AH8.1 in the most recent literature) Because of its strong linkage disequilbrium, each of the genes in the haplotype are markers for probable presence of adjacent genes. (wikipedia.org)
  • With DR3 this DQ2 has the second strongest linkage to Type 1 diabetes, and when paired with HLA-DQ8 is the most abundant phenotype found in late onset, "Type1-Type2" diabetes mellitus type 1. (wikipedia.org)
  • However, identification of causal variants within the MHC for the majority of these diseases has remained difficult due to the great variability and extensive linkage disequilibrium (LD) that exists among alleles throughout this locus, coupled with inadequate study design whereby only a limited subset of about 20 from a total of approximately 250 genes have been studied in small cohorts of predominantly European origin. (plos.org)
  • The concept of the extended MHC (xMHC), spanning about 7.6 Mb of the genome, has been recently established by the finding that linkage disequilibrium (LD) and MHC-related genes exist outside the classically defined locus . (plos.org)
  • DQB1
  • HLA-DQ2 and HLA-DQB1*02 are almost synonymous in meaning. (wikipedia.org)
  • DQB1*0201 in Europe is frequently found in the HLA A1-B8-DR3-DQ2 haplotype. (wikipedia.org)
  • For low probability searches there is no consensus on which HLA incompatibilities are more permissive, although HLA-DQB1 mismatches are generally considered as acceptable. (hindawi.com)
  • alleles associated
  • Other HLA class I alleles associated with the disease (i.e. (hindawi.com)
  • In addition, we utilized HLA genotype data from more than four million individuals from publicly accessible repositories such as the Allele Frequency Net Database, Major Histocompatibility Complex Database and Immune Epitope Database to study the HLA alleles associated with DILI. (biomedcentral.com)
  • We utilized novel in silico strategies to examine HLA haplotype relationships among the alleles associated with DILI by using bioinformatics tools such as NetMHCpan, PyPop, GraphViz, PHYLIP and TreeView. (biomedcentral.com)
  • Our bioinformatic analysis indicates that there may be a connection between the different HLA alleles associated with DILI caused by therapeutically and structurally different drugs, possibly through peptide binding of one of the HLA alleles that defines the causal haplotype. (biomedcentral.com)
  • Genetic
  • This region is the genetic locus for many diseases and contains many genes associated with immune function. (mja.com.au)
  • 11 Genetic mapping involved a comparison of HLA genotypes for 44 patients with Stevens-Johnson syndrome or toxic epidermal necrolysis with those of 101 controls who had taken carbamazepine for at least 3 months without development of any skin reaction, and 93 healthy individuals. (mja.com.au)
  • Both of these mechanisms highlight that the unique interaction between drug, T-cell receptor and MHC molecule is a key factor in the development of immune-mediated adverse reactions to drugs and, as such, the study of HLA alleles represents a logical route to study the genetic basis of such immune-mediated reactions. (biomedcentral.com)
  • polymorphic
  • With the aim of clarifying the role of several polymorphisms around the HLA-C locus in the clinical expression of PsA, the distribution of several polymorphic markers and genes located around the HLA-C locus was analyzed in a well-established cohort of 110 patients with PsA, 50 patients with psoriasis alone, and 110 healthy controls. (hindawi.com)
  • HLA genes are found to be numerous and highly polymorphic in order to bind various kinds of peptides originated from self or foreign antigens. (hindawi.com)
  • Most typing techniques rely on a locus-specific generic amplification (of one or several exons) which makes it sometimes difficult ot detect whether two polymorphic segments are in cis or in trans in heterozygous individuals. (hindawi.com)
  • allelic
  • The diversity of the HLA system at the allelic and haplotypic level and the heterogeneity of HLA typing data of the registered donors render the search process a complex task. (hindawi.com)
  • This is because of the weak relationship between allelic variation of individual loci and phenotypic expression of the trait. (medsci.org)
  • serotypes
  • For serotypic identification of the DQ2.5cis isoform requires the DR3 (or HLA-DR17 or HLA-DR18) and DQ2 serotypes. (wikipedia.org)
  • An example of phenotypes that can mediate CD and T1D, the DR3-DQ2/X serotypes and the DR5-DQ7/DR7-DQ2 serotypes can mediate celiac disease with equal efficiency but the DR5-DQ7/DR7-DQ2 cannot mediate T1D as successfully as DR4-DQ8 or DR3-DQ2 (X is not DR3-DQ2 or DR7-DQ2). (wikipedia.org)
  • abacavir
  • The U.S. Food and Drug Administration (FDA) released an alert concerning abacavir and abacavir-containing medications on July 24, 2008, and the FDA-approved drug label for abacavir recommends pre-therapy screening for the HLA-B*5701 allele and the use of alternative therapy in subjects with this allele. (wikipedia.org)
  • There are already two examples - abacavir hypersensitivity and HLA - B*57:01 and carbamazepine toxicity and HLA - B*15:02 - that have been translated to the clinic. (biomedcentral.com)
  • nomenclature
  • An exchange of reagents was necessary to compare antisera to standardize the definition of antigens and to establish a common nomenclature. (ihiws.org)
  • chromosome
  • The haplotype begins before the TRIM27 locus approximately 28.8 million nucleotides from the telomere of chromosome 6's shorter arm. (wikipedia.org)
  • Dausset
  • The workshop was convened for the purpose of comparing the different in vitro assay systems used at the time to define antigens which were described as Hu-1 (Dausset and Ivanyi), LA (Payne and Bodmer), and Four (van Rood). (ihiws.org)
  • molecules
  • The MHC genes and the cell surface protein molecules encoded by the MHC play a critical role in T cell recognition and function as antigens during transplantation. (ihiws.org)
  • In another situation, if a cell is infected by pathogens, pathogenic peptides attached to MHC molecules will be recognized as "nonself" and further trigger the downstream immune responses against the antigens [ 1 ]. (hindawi.com)
  • transplantation
  • In transplantation of hematopoietic stem cells (HSCs) from unrelated donors a high HLA compatibility level decreases the risk of acute graft-versus-host disease and mortality. (hindawi.com)
  • The implementation of recipient and donor HLA high resolution genotyping in the clinical practice has clearly contributed to improve the success of transplantation through a better matching [ 1 , 2 ]. (hindawi.com)
  • DQA1
  • DQ2 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. (wikipedia.org)
  • carbamazepine
  • In December 2007, the United States Food and Drug Administration announced that, because of the associated risk of Stevens-Johnson syndrome and toxic epidermal necrolysis, people of Asian descent should be genetically tested for the HLA-B*1502 allele before starting therapy with carbamazepine. (mja.com.au)
  • HLA-B*1502 was present in all the case patients, in 3% of control patients taking carbamazepine and in 9% of the healthy controls (see Box 2 ). (mja.com.au)
  • Although Stevens-Johnson syndrome with carbamazepine also occurs among Caucasians, HLA-B*1502 has not been found in this group. (mja.com.au)
  • 0701
  • The Cw*0701 is found in the A*33-B58 haplotype and is like the result of a recombination between A33-Cw7 and a different B44-DR7 haplotype. (wikipedia.org)
  • peptides
  • This is a significant decrease and is almost certainly a result of the abnormally efficient binding of HLA-A*02 to peptides originating from EBV. (wikipedia.org)
  • amino acid
  • Models for the discrimination of more detrimental mismatches based on specific amino acid residues rather than specific HLA alleles are presented. (hindawi.com)
  • frequency
  • The MHC was first associated with disease in 1967 when HLA-B antigens were found at increased frequency in patients with Hodgkin's lymphoma . (plos.org)
  • Reactions
  • Other HLA associations are not sufficiently specific for translation but are still of interest in relation to underlying mechanisms for the reactions. (biomedcentral.com)
  • Progress on non-HLA genes affecting adverse drug reactions has been less, but some important associations, such as those of SLCO1B1 and statin myopathy, KCNE1 and drug-induced QT prolongation and NAT2 and isoniazid-induced liver injury, are considered. (biomedcentral.com)
  • found
  • HLA-DR3-DQ2 is found in HLA A1-B8-DR3-DQ2 haplotype in Northern Europeans (including the British Ilse, Ireland, Iceland). (wikipedia.org)
  • MHC loci do not always exist in a single tightly linked cluster as they do in mammals, but can be found in two (e.g., chicken 9 ) or multiple (e.g., zebrafish 10 ) clusters. (tripod.com)
  • The association of HLA with PsA is more complex than that found in psoriasis. (hindawi.com)
  • immune response
  • In essence, there are indicators, albeit from a small study comparing HLA expression in fertile and infertile couples, that HLA-A*02 may induce increased maternal immune response to the fetus. (wikipedia.org)
  • Subsequently, Baruj Benacerraf described the importance of these antigens in the immune response . (plos.org)
  • Serotyping
  • Serotyping can identify as far as HLA-A*02, which is typically enough to prevent transplant rejection (the original motivation for HLA identification). (wikipedia.org)
  • The serotyping efficiency of HLA-DQ2 is among the highest of the antisera. (wikipedia.org)
  • risk factor
  • However MD2 is HLA-DR3 and HLA-DR4 and this is the major, major risk factor for type 1 diabetes and rheumatoid arthritis. (blogspot.com)
  • distinct
  • DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution. (wikipedia.org)
  • antisera
  • The first HLA antigens were defined by individual groups using their own reagents, antisera and cell panels, identified locally. (ihiws.org)
  • recombination
  • At 4.7 million nucleotides in length and ~300 genes the locus had resisted the effects of recombination, either as a consequence of recombination-obstruction within the DNA, as a consequence of repeated selection for the entire haplotype, or both. (wikipedia.org)
  • region
  • This study shows that the region centromeric to HLA-C is a key region that expresses not only disease risk genes but also genes that help explain the phenotypic variability of PsA. (hindawi.com)