bluuebunny/crossref_metadata_2025_split huggingface dataset:
14th International HLA and Immunogenetics Workshop: Report on the HLA component of type 1 diabetes
Authors: Steenkiste A. , Valdes A. M. , Feolo M. , Hoffman D. , Concannon P. , Noble J. , Schoch G. , Hansen J. , Helmberg W. , Dorman J. S. , Thomson G. , Pugliese A. ,   13th IHWS 1 Diabetes Component participating investigators
Published: April 2007

AbstractThe type 1 diabetes (T1D) component of the 13th International Histocompatibility Workshop (IHW) obtained microsatellite (msat) and human leukocyte antigen (HLA)‐DR/DQ data on case/control and family samples through an international collaboration. The aim was to detect the effects of susceptibility loci on the HLA complex independent of the primary determinants in the class II region (HLA‐DR/DQ). As part of the activity of the 14th International HLA and Immunogenetics Workshop (14th IHIWS), a T1D workshop was held to present analyses of the 13th IHW data and to discuss the current status of knowledge about the genetics of T1D. These data are now available online through dbMHC, a web‐based resource established by the National Center for Biotechnology. Continuing work since the 13th IHW has resulted in published work showing heterogeneity of DR3 haplotypes in data sets from the 13th IHW and Human Biological Data Interchange (HBDI). In addition, we identified markers that define DRB1*1501 DQB1*0602 haplotypes conferring reduced protection from diabetes in a Swedish 13th IHW data set. Further analyses of the 13th IHW data set not only showed some significant results but also demonstrated extensive heterogeneity reminiscent of non‐HLA genes. The haplotype analysis in HBDI families identified two msats with significant effects on susceptibility and statistically significant age of onset effects at class III markers that are not because of linkage disequilibrium, with class I alleles known to affect age of onset. The above studies underscore the importance of refining our understanding of susceptibility associated with genes in the HLA complex.
Analysis of HLA class I alterations in tumors: choosing a strategy based on known patterns of underlying molecular mechanisms
Authors: Cabrera T. , Maleno I. , Collado A. , Lopez Nevot M. A. , Tait B. D. , Garrido F. 
Published: April 2007

AbstractThe application of peptide‐based immunotherapy in the treatment of cancer has known limitations in patients with loss or downregulation of human leukocyte antigen (HLA) class I expression on tumor cells. These alterations diminish the ability of cancer cells to present tumor peptides to T cells and therefore lead to failure of peptide‐based cancer vaccination. Abnormal expression of HLA class I molecules in malignant cells is a frequent event that ranges from total loss of class I molecules to partial loss of HLA‐specific haplotypes or alleles. Different mechanisms underlie these alterations and might require different therapeutic approaches. A complete characterization of molecular defects may suggest strategies for the selection and follow‐up of patients undergoing T‐cell based immunotherapy. Moreover, a precise identification of the mechanism leading to HLA class I defects in patients with cancer will help develop new, personalized patient‐tailored treatment protocols. Here, we describe several examples showing the necessity and feasibility of making detailed individual analysis of HLA alteration mechanisms based on previously described molecular patterns in different types of malignancy. We recommend using this approach, at least in some patients, to enhance the therapeutic benefit of cancer immunotherapy.
Canine DLA diversity: 1. New alleles and haplotypes
Authors: Kennedy L. J. , Barnes A. , Short A. , Brown J. J. , Lester S. , Seddon J. , Fleeman L. , Francino O. , Brkljacic M. , Knyazev S. , Happ G. M. , Ollier W. E. R. 
Published: April 2007

AbstractThe aim of this component was to establish the range of DLA diversity in as many dog breeds as possible. In particular, we wanted to collect breeds that had not previously been studied. Data were submitted of 937 dogs of over 80 different breeds, and these included 17 ‘new’ breeds. Twenty‐eight new alleles were identified including 21 DLA‐DRB1, 2 DLA‐DQA1 and 5 DLA‐DQB1 alleles. These occurred in many new haplotype combinations. One haplotype was identified that appeared to lack DQB1. Two other haplotypes carry two DQB1 genes. It was clear that each dog breed has a restricted range of DLA alleles and haplotypes, and no breed had all 88 haplotypes identified in this study.
Canine DLA diversity: 3. Disease studies
Authors: Kennedy L. J. , Barnes A. , Short A. , Brown J. J. , Seddon J. , Fleeman L. , Brkljacic M. , Happ G. M , Catchpole B. , Ollier W. E. R. 
Published: April 2007

AbstractThere are many millions of dogs worldwide, and these dogs have many different functions. The most obvious use is providing companionship, but there are also many working dogs, including guide dogs for the blind, hearing dogs, guard dogs and farm dogs, to mention a few. The health and welfare of these dogs is of great concern to dog owners, dog breeders and to those who use dogs in their work. Dogs spontaneously develop many diseases that are very similar to their human counterparts. Dogs may, therefore, provide exceptional animal models for such diseases. Identifying genetic markers in the dog may be easier than in humans, and may then provide useful information about genes that can be transferred to humans. This study looked for associations between DLA and two autoimmune diseases of the dog, diabetes and hypothyroidism. DLA associations were found for both of these diseases.
14th International HLA and Immunogenetics Workshop: Report from the reproductive immunology component
Authors: Varla‐Leftherioti M. , Keramitsoglou T. , Spyropoulou‐Vlachou M. , Papadimitropoulos M. , Kontopoulou‐Antonopoulou V. , Tsekoura C. , Sankarkumar U. , Paparistidis N. , Ghosh K. , Pawar A. , Vrani V. , Daniilidis M. , Parapanissiou E. , Diler A. S. , Carin M. , Stavropoulos‐Giokas C. 
Published: April 2007

AbstractThe aim of the study was to investigate whether human leukocyte antigen (HLA) allele sharing between partners or the maternal killer immunoglobulin‐like receptor (KIR) repertoire is associated with recurrent spontaneous abortion (RSA) and repeated implantation failure after in vitro fertilization (IVF)/embryo transfer. From a total population of 158 RSA couples, 40 couples with repeated implantation failures (IVF) and 81 control couples, reported by five different laboratories, analysis was performed for (a) HLA sharing in 50 RSA, 31 IVF and 31 control couples, (b) DQA1*0505 sharing/homozygosity among partners in 108 RSA, 40 IVF and 36 control couples, and (c) the women’s KIR repertoire in 46 RSA, 26 IVF and 36 control wives. RSA couples were divided into alloimmune aborter (RSAallo) and autoimmune aborter (RSAauto). The results oppose to the suggestion that increased HLA sharing per se or a limited maternal KIR repertoire predisposes to RSA or IVF failure. However, the observation of a slightly higher percentage of DQA1*0505 sharing in the RSAauto and the IVF group needs further investigation. The ratio of inhibitory to activating KIR (actKIR) was slightly lower in RSAallo and IVF women (1.9 vs 2.6 in controls), while in a high percentage of these women, the standard receptors of the KIR A haplotype were combined with actKIR/s of the haplotype B (66.6% and 45.4% vs 20% and 15.3% in RSAauto and control groups). This may suggest a possible involvement of actKIRs in embryo implantation and the maintenance of pregnancy and also requires further investigation.
An apportionment of human HLA diversity
Authors: Sanchez‐Mazas Alicia 
Published: April 2007

AbstractIn this study, we estimate the amount of human leukocyte antigen (HLA) genetic diversity in the global human population at three levels of population hierarchy: within populations; among populations within continents and among continents on large sets of HLA population data gathered during the last international histocompatibility and immunogenetics workshops and conferences. The results indicate that loci HLA‐A, B, C, DRB1, DQA1 and DQB1 exhibit a higher amount of diversity among individuals of the same population than observed for neutral polymorphisms (average diversity of 90.3% compared with 84.4%–87.6% for neutral DNA markers). On the other hand, the value (84%) obtained for HLA‐DPB1 is very similar to those observed for non‐HLA nuclear markers, in agreement with other results suggesting the neutrality of this locus. In addition to the results of the hierarchical analysis of variance, selective neutrality tests indicate that loci B, C and DRB1 are the most affected by balancing selection. However, one cannot discriminate between a direct selective effect acting on those loci or a general effect of associative overdominance acting over the large HLA region (in linkage disequilibrium) encompassing those loci.
Typing of potential and selected donors for transplant: methodology and resolution
Authors: Oudshoorn M. , Horn P. A. , Tilanus M. , Yu N. 
Published: April 2007

AbstractThe goal was to establish the best typing techniques and strategies for donors selected as potential donors for a specific patient. Complete sequence of exons 2 and 3 for class I and exon 2 for class II molecules by sequencing‐based typing was deemed the best technique in reducing problems with ambiguities and null alleles as well as the possibility to establish a completely automated system. Focusing on multiple approaches for typing was regarded as a better strategy than continued usage of serological methods although the latter technique was still considered to be useful by some for detection of null alleles. The patient and finally the selected donor, including the back‐up donor, should be typed for at the highest level and typing ambiguities should be resolved. In very difficult cases, race, haplotype information and allele frequency in the population should help to decide whether or not to resolve the ambiguity. Cellular techniques such as the cytotoxic T lymphocyte precursor test may help to choose between single class I mismatched donors in experienced laboratories only.
Immune response gene polymorphisms in unrelated donor hematopoietic cell transplantation
Authors: Malkki M. , Gooley T. , Dubois V. , Horowitz M. , Petersdorf E. W. 
Published: April 2007

AbstractImmune response genes (IRG) play an important role in inflammation and control of infection after allogeneic transplantation. The International Histocompatibility Working Group (IHWG) in hematopoietic cell transplantation took a candidate gene approach to define the risks associated with genetic variation for a panel of well‐characterized IRG.
A community standard XML message format for sequencing‐based typing data
Authors: Maiers M. 
Published: April 2007

AbstractAn electronic messaging format has been developed and is proposed as a community standard. This format allows explicit representation of typing results for polymorphic immunogenetic gene systems such as killer cell immunoglobulin‐like receptor and human leukocyte antigen. Primary data in the form of Sequence Specific Oligonucleotide (SSO)/Sequence Specific Primer (SSP) reactivities and sequencing‐based typing sequences can be linked with nomenclature‐based results allowing complete representation of the permanent information.
Sequencing‐based typing identifies novel alleles due to single nucleotide polymorphisms in ‘conserved’ regions
Authors: Smith L. K. , Sayer D. C. , Whidborne R. S. , Christiansen F. T. 
Published: April 2007

AbstractThe Royal Perth Hospital laboratory has been using sequencing‐based typing for all HLA loci since 2002. In the period to October 2005, approximately 12,000 HLA A and HLA B, 5000 HLA C and DQB1, and 17,000 DRB1 requests have been processed. Twenty nine novel alleles have been identified in that time. These comprise 10 HLA‐A (including one null allele), five HLA‐B, six HLA‐C, six DRB1 (including a null allele), and one DQB1 novel allele. (At the time of identifying the DRB1 null allele, there were no other reported examples.) In addition, we have seen one example of a blast‐specific HLA‐A null allele. One HLA‐A allele (HLA‐A*0264) and one HLA‐B allele (HLA‐B*400104) were subsequently identified in other laboratories and submitted to the international ImMunoGeneTics project (IMGT) database.
Pilot study: assessment of interlaboratory variability of sequencing‐based typing DNA sequence data quality
Authors: Sayer D. C. , Goodridge D. M. 
Published: April 2007

AbstractThis pilot study showed that variability in the sequence quality scores exists within and between laboratories performing human leukocyte antigen typing by sequence‐based typing (SBT). It also showed that the base call score (BCS) system in Assign‐SBT is a useful tool for comparing sequence quality between laboratories.
Diversity of HLA‐DQA1 gene in the Korean population
Authors: Lee K. W. , Jung Y.‐A. , Oh D. H. 
Published: April 2007

AbstractGenotype of the human leukocyte antigen (HLA)‐DQA1 locus was analyzed in Koreans (n= 467) using the 14th International Workshop protocol established to characterize the sequences of exons 1–4 of the gene. Unexpectedly, it appeared that the DQA1 (19 alleles) was more diverse than DQB1 (15 alleles) in the study population. DQA1*010201, DQA1*0303, DQA1*0103, and DQA1*0302 appeared to be major alleles exhibiting more than 10%. Among six allele groups, DQA1*01–*06, DQA1*01 showed highest diversity exhibiting seven different alleles. Analysis using maximum likelihood method showed numerous multi‐locus HLA haplotypes. High relative linkage disequilibrium values (RLD) of the two‐locus haplotypes and exclusive association of a specific DQA1 allele with a specific DRB1 and/or DQB1 alleles suggested tight linkage of DQA1 to DRB1 and DQB1. In HLA‐matching process for hematopoietic stem cell transplantation, however, DQA1 typing would be informative for individuals carrying specific DRB1 allele (DRB1*0802, DRB1*1201, or DRB1*1403) that could be associated with multiple DQA1 alleles in the study population. Information obtained in this study will be useful in medical and forensic areas as well as in anthropology.
Relevance of KIR gene matching in unrelated hematopoietic stem cell transplantations
Authors: Gagne K. , Busson M. , Balere‐Appert M. L. , Absi L. , Jollet I. , Bignon J.‐D. , Bois M. , Dormoy A. , Dubois V. , Gebuhrer L. , Loiseau P. , Masson D. , Moine A. , Perrier P. , Reviron D. , Charron D. , Raffoux C. ,   ARS 2000 FRM and FGM group
Published: April 2007

AbstractThe aim of this collaborative study was to evaluate the impact of killer cell immunoglobulin‐like receptor (KIR) gene disparities on unrelated hematopoietic stem cell transplantations (HSCT) outcome. To address this question, we have determined the presence or absence of 14 functional KIR genes in HLA‐matched (n= 164) or HLA‐mismatched (n= 100) donor/recipient pairs and investigated whether KIR gene disparities had an impact on both the occurrence of acute graft‐vs‐host‐disease incidence and overall survival. In a univariate analysis, our preliminary results suggest a detrimental effect of a few KIR gene disparities on patient survival that should be avoided in unrelated HSCT.
Distribution of the killer cell immunoglobulin‐like receptors in Mexican Mestizos
Authors: Contreras G. , Aláez C. , Murguía A. , García D. , Flores H. , Gorodezky C. 
Published: April 2007

AbstractUnderstanding the complex interaction between human leukocyte antigen (HLA) and killer immunoglobulin‐like receptor (KIR) requires study of both HLA and KIR diversity in the same population. The presence of KIR genes 2DL1, 2, 3, 4, 5, KIR3DL1, 3DL2, 3DL3, KIR2DS1, 2DS2, 2DS3, 2DS4, 2DS5, KIR3DS1, KIR3DP1, KIR2DP1 was determined in 54 unrelated Mexican Mestizo donors. The PCR sequence‐specific oligonucleotide probe One Lambda kit (Luminex) kindly given by J. Lee was used for typing. The software analyses the combination obtained for each of the five exons. Five controls (UCLA DNA exchange) were run as quality control. The gene frequency (GF) was calculated for the 16 KIR loci; the GF of individual genes was 100% for 2DL4, 3DL1, 3DL2, 3DL3, 3DP1. KIR2DL1 (76.43%), KIR2DL2 (37.64%), KIR2DL3 (76.43%), KIR2DL5 (29.29%), KIR3DS1 (23.02%), KIR2DS1 (21.83%), KIR2DS2 (37.64%), KIR2DS3 (50.93%), KIR2DS4 (86.93%), KIR2DS5 (29.29%), KIR2DP1 (86.39%). We observed similar frequencies with Caucasians and Mediterraneans, with exceptions: KIR3DL1 which was present in 100% Mexicans, ranged from 62% to 75% in Caucasians; 2DS3 (50.9%) vs 14–20% 2DS4 (86.39%) vs 65–79% and 2DS5 (29.29%) vs 11–18% in Caucasians. The finding of 23 phenotypes in 54 individuals accounting for both chromosomes, demonstrates the enormous diversity. We found 14 different combinations of stimulatory KIRs in the phenotypes; every subject had at least one stimulatory KIR; in all of them, 2DS4 existed except for one person who may have some new combination: 2DS2 2DS3. Extended family data will offer accurate and precise haplotypes to provide an insight on the significance of ethnic distribution and KIR repertoire.
Modelling KIR–HLA genotype disparities in type 1 diabetes
Authors: Van Der Slik A. R. , Alizadeh B. Z. , Koeleman B. P. C. , Roep B. O. , Giphart M. J. 
Published: April 2007

AbstractWe previously reported that a disparate distribution between killer cell immunoglobulin‐like receptor (KIR) and human leukocyte antigen (HLA) class 1 genes is associated with susceptibility to develop type 1 diabetes. Here we compare multiple models which reflect the combined genotype effects of combinations of functional inhibitory and activating KIRs in relation to HLA in an extended cohort of patients with juvenile‐onset type 1 diabetes and non‐diabetic control subjects. Our results suggest that autoimmunity in type 1 diabetes is mainly associated with a decrease in inhibitory KIR–HLA genotype combinations, while the influence of activating KIR genotypes seems redundant. However, logistic regression showed that activating KIR genotypes do influence the overall hierarchy of protection/susceptibility as reflected by composite inhibitory and activating KIR–HLA genotype models.
KIR receptors and HLA‐C in the maintenance of pregnancy
Authors: Flores A. C. , Marcos C. Y. , Paladino N. , Arruvito L. , Williams F. , Middleton D. , Fainboim L. 
Published: April 2007

AbstractThe present study demonstrated that patients who have recurrent spontaneous abortions (RSA) presented a decreased number of killer immunoglobulin‐like inhibitory receptors (KIR), in particular KIR2DL2. The KIR AA genotype was found increased in comparison with controls. Individuals AA will also be homozygous for 2DL3, which in contrast to 2DL2, show a weaker interaction with C1 ligands and therefore a weaker inhibition. The present study might support that in RSA patients, the balance between inhibitory and activating receptors present in natural killer cells is inclined toward an activating state that may contribute to pregnancy loss.
HLA‐E polymorphism in Amerindians from Mexico (Mazatecans), Colombia (Wayu) and Chile (Mapuches): evolution of MHC‐E gene
Authors: Arnaiz‐Villena A. , Vargas‐Alarcon G. , Serrano‐Vela J. I. , Reguera R. , Martinez‐Laso J. , Silvera‐Redondo C. , Granados J. , Moscoso J. 
Published: April 2007

AbstractHuman leukocyte antigen (HLA)‐E is a nonclassical class I (Ib) gene with a restricted polymorphism. Only eight DNA alleles and three proteins of this gene have been described and their frequencies analyzed in Caucasian, Oriental, Asian Indian, and Negroid populations. In the present study, HLA‐E polymorphism has been analyzed in six Amerindian and Mestizo populations from North and South America and compared with previously described populations. HLA‐E*0101 is the most frequent allele found in all populations except in Afrocolombian and Wayu Amerindians, in which blood group analyses show a high admixture with Caucasian and African populations. Mazatecan and Mapuche (two Amerindian groups from North and South America, respectively) presented similar HLA‐E frequencies, whereas Wayu Indians are more similar to the Afrocolombian population. The Mexican and Colombian Mestizo show similar allele frequencies to Amerindians with high frequencies of HLA‐E*0101 and HLA‐E*010302 alleles. Also, frequencies in Negroids and Asian Indians present a similar distribution of HLA‐E alleles. These data are in agreement with worldwide restricted polymorphism of HLA‐E because no new allele was detected in the six populations studied. The allelic frequencies show differences among Caucasian, Oriental, Mestizo and Indian populations. Ape major histocompatibility complex‐E allelism is also very restricted: common chimpanzee (one allele); bonobo (two alleles); gorilla (two alleles); orangutan (one allele); rhesus monkey (eight alleles); cynomolgus monkey (two alleles); and green monkey (two alleles).
HLA‐G levels in serum and plasma
Authors: Rudstein‐Svetlicky N. , Loewenthal R. , Horejsi V. , Gazit E. 
Published: April 2007

AbstractSoluble human leukocyte antigen (HLA)‐G levels are in most cases higher in the plasma than in the serum obtained from the same individual. This is probably due to trapping of the protein during clot formation. In studies where soluble HLA‐G is quantified, it is therefore recommended that plasma or serum levels should be compared with the same blood product, namely, serum to serum and plasma to plasma. Because of possible gender differences in HLA‐G levels it is also recommended that this should be considered in the construction of a control group especially in studies where there is a preponderance of one of the sexes.
Quantification and identification of soluble HLA‐G isoforms
Authors: Rebmann V. , LeMaoult J. , Rouas‐Freiss N. , Carosella E. D. , Grosse‐Wilde H. 
Published: April 2007

AbstractIn order to clarify the diagnostic relevance of soluble human leukocyte antigen‐G (sHLA‐G) molecules, reliable methods for the measurement of sHLA‐G in various body fluids are of interest. Therefore, the aims of the ‘Wet‐Workshop for Quantification of Soluble HLA‐G’ held in Essen, Germany (at the Institute of Immunology, 18–20 October 2004) were to select and to validate HLA‐G‐specific enzyme‐linked immunosorbent assay (ELISA) formats and purified standard HLA‐G proteins, which can be easily generated and used as consensual references. We chose two ELISA formats, one for the simultaneous determination of shed HLA‐G1 + sHLA‐G5 (sHLA‐G1 + G5) and one for the exclusive detection of HLA‐G5 molecules. The first ELISA uses the antibody pair monoclonal antibody (mAb) MEM‐G/9 + anti‐β2‐microglobulin (β2m), whereas the latter uses mAbs 5A6G7 + W6/32. Purified and well‐defined HLA‐G5 protein derived from insect SF9 cells transfected with HLA‐G5 + human β2m served as standard reagent. Twenty‐five members of 13 international laboratories participated in the 3‐day Wet‐Workshop. The workshop demonstrated that the HLA‐G5 protein was equally detected by both ELISA formats allowing direct comparison of quantitative results obtained by these two ELISA formats, and that sHLA‐G1 + G5 and HLA‐G5 molecules, respectively, were specifically and reproducibly quantified by the two ELISA formats. The comparison of the two ELISA results obtained allows the conclusion that sHLA‐G1 and HLA‐G5 molecules can exist in the blood of healthy donors. Moreover, there was evidence for a novel soluble HLA‐G structure recognized by the mAbs 5A6G7 + W6/32 antibody combination but not by the one of mAb MEM‐G/9 + anti‐β2m.