• 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)
  • One of the two original reports of the association between TACI and CVID also reported Human Leukocyte Antigen (HLA) haplotypes. (beds.ac.uk)
  • 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)
  • DRB1
  • The DRB4*locus was apparently duplicated from an ancestor of the DRB1-DRB4 common locus around 5 million years ago. (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)
  • The method was applied to simulated data of the three loci HLA-A, HLA-B and HLA-DRB1. (biomedcentral.com)
  • linkage
  • 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)
  • Other nearby genes that are in linkage disequilibrium with HLA class I or MICA could determine susceptibility to PsA or further increase the risk of developing the disease. (hindawi.com)
  • 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)
  • 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)
  • exon
  • The PacBio system has the longest read length among available NGS platforms, and therefore is the only platform capable of having exon 2 and exon 3 of HLA genes on the same read to unequivocally solve the ambiguity problem caused by the "phasing" issue. (biomedcentral.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)
  • 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)
  • sequences
  • It was showed that the four major NGS platforms, Roche GS 454 FLX, Illumina MiSeq/HiSeq, PGM Ion Torrent and Pacific Biosciences SMRT (PacBio), were all capable of producing sequences suitable for the resolution of HLA genotyping. (biomedcentral.com)
  • 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)
  • 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)
  • 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)
  • 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)
  • The HLA genes are the most polymorphic genes in humans and the difference between two alleles is often only a single base pair substitution. (biomedcentral.com)
  • It might be due to the high error rate of PacBio (about 15-20%), which makes it more difficult to genotype polymorphic regions such as HLA. (biomedcentral.com)
  • 5701
  • 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)
  • Additionally, both the Clinical Pharmacogenetics Implementation Consortium and the Dutch Pharmacogenetics Working Group recommend use of an alternative therapy in individuals with the HLA-B*5701 allele. (wikipedia.org)
  • HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. (springer.com)
  • Caucasians
  • Although Stevens-Johnson syndrome with carbamazepine also occurs among Caucasians, HLA-B*1502 has not been found in this group. (mja.com.au)
  • 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)
  • found
  • 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 HLA-C locus has been found only in humans, gorilla and chimpanzees but not in monkeys 17 . (tripod.com)
  • HLA *B44 was also found to be over-represented among patients who presented to our clinic with adult-onset recurrent sinopulmonary infections (RESPI) and normal serum immunoglobulin levels, a cohort that included first and second degree relatives of patients with CVID. (beds.ac.uk)
  • The association of HLA with PsA is more complex than that found in psoriasis. (hindawi.com)
  • genetically
  • 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)
  • common
  • HLA-A*02 is globally common, but particular variants of the allele can be separated by geographic prominence. (wikipedia.org)
  • among
  • HLA DR3-DQ2 is not spread evenly among humans. (wikipedia.org)
  • Among patients with EBV+ HL, only 35.5% of people expressed HLA-A*02 compared to 50.9% in the EBV-HL group and 53% in the control group. (wikipedia.org)
  • The serotyping efficiency of HLA-DQ2 is among the highest of the antisera. (wikipedia.org)
  • However, because of the extensive LD that exists among alleles throughout this locus, the causal MHC variant(s) have remained elusive for the great majority of diseases. (plos.org)
  • However, among the four platforms, HLA typing by PacBio was the least addressed. (biomedcentral.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)
  • 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)
  • efficiency
  • In addition, with the advance of the next generation sequencing (NGS) technologies, HLA typing by NGS seems to be a promising approach for HLA sequencing and allele assignment owing to its efficiency and cost effectiveness. (biomedcentral.com)
  • distinct
  • DRB3, DRB4, and DRB5 are minor DR beta encoding loci, they have been recognized as having distinct evolution. (wikipedia.org)
  • system
  • The dramatic advance in knowledge has been due largely to the early appreciation of the scope of work necessary to elucidate the HLA system requiring broad collaboration beyond what is possible within individual laboratories. (ihiws.org)
  • antisera
  • The first HLA antigens were defined by individual groups using their own reagents, antisera and cell panels, identified locally. (ihiws.org)