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PubMed2004

IMGT-ONTOLOGY and IMGT databases, tools and Web resources for immunogenetics and immunoinformatics.

The international ImMunoGeneTics information system (IMGT; http://imgt.cines.fr), is a high quality integrated information system specialized in immunoglobulins (IG), T cell receptors (TR), major histocompatibility complex (MHC), and related proteins of the immune system (RPI) of human and other vertebrates, created in 1989, by the Laboratoire d'ImmunoGénétique Moléculaire (LIGM; Université Montpellier II and CNRS) at Montpellier, France. IMGT provides a common access to standardized data which include nucleotide and protein sequences, oligonucleotide primers, gene maps, genetic polymorphisms, specificities, 2D and 3D structures. IMGT consists of several sequence databases (IMGT/LIGM-DB, IMGT/MHC-DB, IMGT/PRIMER-DB), one genome database (IMGT/GENE-DB) and one 3D structure database (IMGT/3Dstructure-DB), interactive tools for sequence analysis (IMGT/V-QUEST, IMGT/JunctionAnalysis, IMGT/PhyloGene, IMGT/Allele-Align), for genome analysis (IMGT/GeneSearch, IMGT/GeneView, IMGT/LocusView) and for 3D structure analysis (IMGT/StructuralQuery), and Web resources ("IMGT Marie-Paule page") comprising 8000 HTML pages. IMGT other accesses include SRS, FTP, search by BLAST, etc. By its high quality and its easy data distribution, IMGT has important implications in medical research (repertoire in autoimmune diseases, AIDS, leukemias, lymphomas, myelomas), veterinary research, genome diversity and genome evolution studies of the adaptive immune responses, biotechnology related to antibody engineering (single chain Fragment variable (scFv), phage displays, combinatorial libraries) and therapeutical approaches (grafts, immunotherapy). IMGT is freely available at http://imgt.cines.fr.

Animals↗

PubMed2005

Immunogenetics of primary Sjögren's syndrome in Colombians.

OBJECTIVE: Data concerning the immunogenetic characteristics of primary Sjogren's syndrome (SS) in Latin-Americans are scarce. A research project centered on primary SS in Colombians was initiated in January 1996 to better define these characteristics. METHODS: TAP, HLA, IL-10, and microsatellites on 6p21.3 genotyping was performed by polymerase chain reaction techniques. Immunohistochemistry for Bcl-2 antagonist/killer (Bak) was performed. Autoantibodies and serum level of cytokines (IL-10, TNF-alpha, IFN-gamma, IL-4, and IL-12p70) were determined by enzyme-linked immunosorbent assay. RESULTS: The HLA-DRB1*0301-DQB1*0201 haplotype was associated with disease (OR = 4.3, 95% CI: 1.6 to 11.9, P = 0.002), with a more severe histopathologic picture, and with the presence of anti-Ro and anti-La antibodies. D6S439 microsatellite polymorphism was associated with primary SS in an HLA-independent manner. The most likely gene related to the D6S439 chromosomal location appears to be BAK-1 , which codes for Bak protein, expressed in salivary gland's infiltrate from patients with primary SS but not in controls. IL-10 and IFN-gamma concentrations were significantly higher in patients than in controls ( P < 0.01). IL-10 correlated with titers of IgA rheumatoid factor, anti-Ro, and anti-La antibodies, and with the severity of lymphocytic infiltrate (r > 0.3, P < 0.04). Patients who produced high IL-10 levels had significantly more episodes of cutaneous vasculitis and a higher proportion the IL-10.G9 allele. CONCLUSIONS: The HLA-DRB1*0301-DQB1*0201 haplotype and IL-10 participate in the histopathological progression of SS, autoantibody production, and clinical manifestations. Bak protein and its gene polymorphism may participate in the pathology and susceptibility of disease. HLA and cytokine (IL-10 and IFN-gamma) manipulation may be helpful in treating patients with primary SS.

ATP Binding Cassette Transporter, Subfamily B, Mem↗

PubMed1999

The influence of host factors and immunogenetics on lymphocyte responses to Hepagene vaccination.

We have shown that both demographic and immunogenetic factors are involved in the immune responses of Hepagene vaccinated individuals who were persistent nonresponders to 'S' containing hepatitis B vaccines. The HLA-DRB1 0701; DQB1 0202 genotype was found to be associated with a decline of anti-HBs antibodies (anti-HBs) and were frequent in those individuals who remained nonresponders following booster vaccination. Contrary to previously published 'S' vaccination data, Hepagene stimulated T-cell responses showed a lack of correlation with the humoral responses. Limiting dilution analysis demonstrated that the cellular immune response is associated with the kinetics of exposure to Hepagene rather than magnitude of the anti-HBs response. It remains that despite the inclusion of the pre-S proteins 74% nonresponder vaccinated individuals failed to produce > 100 IU/l of anti-HBs. However, these were persistent nonresponders and it was therefore encouraging that two doses of Hepagene did seroconvert (> 10 IU/L) 61% of this difficult group.

Adult↗

PubMed1996

Primary pulmonary hypertension: immunogenetic response to high-mobility group (HMG) proteins and histone.

HLA class II alleles (DNA typing) and antibodies to HMG-1,2,14,17 proteins and H1 histone were determined in three predominantly Caucasian groups of patients with pulmonary hypertension (PHT). Forty-four adults had primary pulmonary hypertension (PPH), 42 children had PPH, and 41 children had PHT associated with anatomically large congenital pulmonary to systemic shunts (PHT + shunt). The HLA class II alleles in the Caucasian patients were compared with those of 51 healthy Caucasian controls. Eight (18%) of 44 sera from adults with PPH bound HMG-14 and 23 (52%) bound H1. None of 42 sera from children with PPH bound either HMG-14/17 or HMG-1/2, whereas four (10%) bound H1. In the PHT + shunt group of 41 children, two (5%) bound HMG-14, one (3%) bound HMG-17, four (10%) bound HMG-1 and/or HMG-2, and six (15%) bound H1. Among the 12 HMG antibody-positive patients, HLA-DQ6 was present in nine of 10 HLA typed patients (six PPH adults and three PHT + shunt children), seven of whom had antibodies to HMG-14 and one to HMG-17. The 100% frequency of HLA-DQ6 in seven Caucasian patients with antibodies to HMG-14/17 was statistically significant when compared with the 41% frequency of -DQ6 present in 51 healthy Caucasian controls (pc = 0.027, pc = Bonferroni correction, OR = 21.3). In contrast, when compared with controls, 25 patients with PPH and anti-H1 antibodies (21 adults and four children) had increased frequencies of HLA-DQ7 and -DR5 (60% versus 29%, P = 0.010, OR = 3.6 and 48% versus 22%, P = 0.018, OR = 3.4), which were not significant after correction. In essence, antibodies to HMG-14 and to H1 proteins were present predominantly in adults with PPH, suggesting that the pattern of response to HMG-14/17 was similar to that previously reported in systemic lupus erythematosus (SLE) and drug-induced autoimmunity. This is the first report of an association between autoantibodies directed against HMG and H1 with immunogenetic markers. These data suggest that a subset of patients with PPH may have an autoimmune disease.

Adolescent↗

PubMed2000

Influence of immunogenetic background on the outcome of recurrent hepatitis C after liver transplantation.

In immunocompetent patients, specific human leukocyte antigen (HLA) class II alleles have been associated with the severity of hepatitis C virus (HCV)-related disease, in particular, HLA-DRB1*11 has been found to exert a protective effect. The authors have analyzed the role of HLA class I and II alleles in determining the frequency, timing, and progression of histologically proven recurrent hepatitis C in 89 patients who underwent a liver transplant for HCV-related cirrhosis. In addition, the influence of HLA mismatch between donor and recipient, HCV genotype, and use of steroid pulses was also evaluated. Median patient follow up was 35 months (range 4-119). HLA-DRB1 typing was performed by genomic analysis in all cases. Liver biopsies were obtained routinely and at least at yearly intervals. Histologically proven recurrent hepatitis was observed in 46 patients (52%), 10 patients progressing to stage 5-6 fibrosis in most cases within 2 years after transplant. By univariate analysis, 3 variables, HLA-B14, HLA-DRB1*04, and HLA-DRB1 donor/recipient mismatch, showed a significant effect on time to recurrent hepatitis C disease. These parameters were included in a multivariate regression model along with HCV genotype, treatment with steroid pulses and DRB1*11. HLA-B14, HLA-DRB1*04, and HLA-DRB1 donor/recipient mismatch were confirmed to provide a significant and independent contribution to the risk of hepatitic disease recurrence. As for the severity of the disease, none of the 10 patients with stage 5-6 hepatitis carried the HLA-DRB1*11 allele, in line with what was observed in nontransplant subjects. Our results suggest that in posttransplant recurrent hepatitis C, immunogenetic factors are relevant in determining HCV infection outcome.

Adult↗

PubMed1983

[Immunogenetics of myasthenia gravis. Significance of HLA-, complement and Cm gene systems for clinical and immunologic parameters].

In 82 non-related patients with myasthenia gravis the following immunogenetic marker systems were investigated: HLA-A, -B, -C, -DR antigens, complement polymorphisms for Bf, C3 and C4 as well as immunoglobulin allotypes G1m, G3m and Km. In 78 patients the level of circulating acetylcholin receptor autoantibody was measured. The HLA antigens showed no significant differences in frequency when compared with healthy controls. This was also true for the HLA-bound Bf and C4 polymorphism, the non-HLA-bound C3 polymorphism and the immunoglobulin allotypes. A significant (P less than 0.005) increase in heterozygote frequency of 39.7% in the Gm allotype combination G1m (1), (17); (3) when compared with an expected frequency as calculated from the gene frequency of 19.8% was found. HLA-B8 and/or HLA-DR3 positive myasthenia gravis patients showed a significantly (P less than 0.025 and less than 0.005) earlier average onset of the disease whereas in HLA-DR2 positive patients the average onset was later (P less than 0.05). The same HLA antigens correlated with quantitative differences in the acetylcholine receptor autoantibodies: HLA-B8 and/or -DR3 positive patients had on average higher antibody levels than HLA-B8 or -DR3-negative patients. The difference for HLA-DR3 was statistically significant (P less than 0.05). On the other hand patients with HLA-DR2 antigens had significantly lower antibody levels (P less than 0.025). Increased mean antibody levels were also seen in G1m(1), (17) allotype (P less than 0.005) and G3m(21) (P less than 0.05). As the HLA antigens and Gm allotype genes are situated on different chromosomes (C6 and C14) two distinct gene regions are identified in myasthenia gravis. These are associated with quantitative differences in acetylcholine receptor antibody titres.

Autoantibodies↗

PubMed1999

HLA-DPB1*0501-associated opticospinal multiple sclerosis: clinical, neuroimaging and immunogenetic studies.

In order to clarify the relationship between the clinical phenotype and the human leucocyte antigen (HLA) in multiple sclerosis in Asians, 93 Japanese patients with clinically definite multiple sclerosis underwent clinical MRI and HLA-DPB1 gene typing studies. According to a neurological examination, 29 patients were classified as opticospinal multiple sclerosis, 17 as spinal multiple sclerosis and 47 as Western type multiple sclerosis showing the involvement of multiple sites in the CNS including either the cerebrum, cerebellum or brainstem. The opticospinal multiple sclerosis showed a significantly higher age of onset, higher expanded disability status scale scores and higher CSF cell counts and protein content than the Western type multiple sclerosis. On brain and spinal cord MRI, the opticospinal multiple sclerosis showed a significantly lower number of brain lesions, but a higher frequency of gadolinium-enhancement of the optic nerve and a higher frequency of spinal cord atrophy than in Western type multiple sclerosis. The frequency of the HLA-DPB1*0501 allele was found to be significantly greater in opticospinal multiple sclerosis (93%) than in healthy controls (63%, corrected P value = 0.0091 and relative risk = 7.9), but not in Western type multiple sclerosis (66%) or spinal multiple sclerosis (82%). The marked differences in the clinical and MRI findings as well as in the immunogenetic backgrounds between the opticospinal multiple sclerosis and Western-type multiple sclerosis together suggest that HLA-DPB1*0501-associated opticospinal multiple sclerosis is a distinct subtype of multiple sclerosis.

Adult↗

PubMed1999

IMGT, the international ImMunoGeneTics database.

IMGT, the international ImMunoGeneTics database (http://imgt.cnusc. fr:8104), is a high-quality integrated database specialising in Immunoglobulins (Ig), T cell Receptors (TcR) and Major Histocompatibility Complex (MHC) molecules of all vertebrate species, created in 1989 by Marie-Paule Lefranc, Université Montpellier II, CNRS, Montpellier, France (lefranc@ligm.igh.cnrs.fr). IMGT comprises three databases: LIGM-DB, a comprehensive database of Ig and TcR, MHC/HLA-DB, and PRIMER-DB (the last two in development); a tool, IMGT/DNAPLOT, developed for sequence analysis and alignments; and expertised data based on the IMGT scientific chart, the IMGT repertoire. By its high quality and its easy data distribution, IMGT has important implications in medical research (repertoire in autoimmune diseases, AIDS, leukemias, lymphomas), therapeutic approaches (antibody engineering), genome diversity and genome evolution studies. IMGT is freely available at http://imgt.cnusc. fr:8104

Animals↗

PubMed2005

IMGT, the international ImMunoGeneTics information system.

The international ImMunoGeneTics information system (IMGT) (http://imgt.cines.fr), created in 1989, by the Laboratoire d'ImmunoGenetique Moleculaire LIGM (Universite Montpellier II and CNRS) at Montpellier, France, is a high-quality integrated knowledge resource specializing in the immunoglobulins (IGs), T cell receptors (TRs), major histocompatibility complex (MHC) of human and other vertebrates, and related proteins of the immune systems (RPI) that belong to the immunoglobulin superfamily (IgSF) and to the MHC superfamily (MhcSF). IMGT includes several sequence databases (IMGT/LIGM-DB, IMGT/PRIMER-DB, IMGT/PROTEIN-DB and IMGT/MHC-DB), one genome database (IMGT/GENE-DB) and one three-dimensional (3D) structure database (IMGT/3Dstructure-DB), Web resources comprising 8000 HTML pages (IMGT Marie-Paule page), and interactive tools. IMGT data are expertly annotated according to the rules of the IMGT Scientific chart, based on the IMGT-ONTOLOGY concepts. IMGT tools are particularly useful for the analysis of the IG and TR repertoires in normal physiological and pathological situations. IMGT is used in medical research (autoimmune diseases, infectious diseases, AIDS, leukemias, lymphomas, myelomas), veterinary research, biotechnology related to antibody engineering (phage displays, combinatorial libraries, chimeric, humanized and human antibodies), diagnostics (clonalities, detection and follow up of residual diseases) and therapeutical approaches (graft, immunotherapy and vaccinology). IMGT is freely available at http://imgt.cines.fr.

Animals↗

PubMed1989

Studies in the pathogenesis of rheumatoid arthritis. 1: Immunogenetic associations.

The critical role of CMI in the pathogenesis of RA has been reinforced, if not entirely illuminated, by recent information about the immunogenetic basis for individual susceptibility, in regard to genes of the HLA-D locus that control expression of MHC II determinants. An aberration in the T-cell response to cells presenting antigen is strongly implied, and must therefore be characterized. We will need to know what types of antigen trigger aberrant responses in those that are susceptible, and whether continuous presence of antigen is necessary to sustain chronic inflammation. The second part of this article will review immunological injury to joint tissues as an off-shoot of the CMI and HI responses of RA. Using data from animal models we shall examine criteria for establishing chronic joint inflammation, and consider their relevance to RA. We shall also consider the problem of why some joints are more susceptible than others to immunological injury.

Antibody Formation↗

PubMed1995

Behçet's disease in India: a clinical, immunological, immunogenetic and outcome study.

The clinical and laboratory profile of 58 consecutive patients satisfying the ISG 1990 criteria for the diagnosis of Behçet's disease was analysed. It appears that Behçet's disease in India is predominantly 'mucocutaneous' and 'arthritic'; 'ocular' and 'neuro' Behçet's being uncommon. In comparison to published literature, the onset of disease in this part of the world is significantly delayed. The pathergy test is rarely positive. There is no significant difference in clinical presentation and laboratory investigations between children and adults with this disease; also, no sex difference was observed. A combination of oral steroids and colchicine gives good relief in most cases. Preliminary observations seem to reflect no definite association of any known class I antigen to disease in this part of the world. A detailed study on immunogenetics is underway.

Adult↗

PubMed1980

Immunogenetic relationships among genetically defined, inbred domestic Syrian hamster strains.

A large number of genetically defined, isogenic strains of domestic Syrian hamsters (BIO) have been studied for their immunogenetic relationship to the inbred hamster strains MHA and CB, and to a partially inbred, recently wild strain, MIT. The results indicate that all BIO strains are histoincompatible with the inbred and recently wild strains maintained in our colony. They reject exchanged skin allografts, their lymphocytes participate in vigorous mutual mixed lymphocyte reactions. Moreover, transplantation alloantigens have been identified by serological testing with antisera recently developed by immunizing inbred hamsters with tissue from recently wild animals and vice versa. However, the incompatibility is strongest with the CB and MIT strains. Individual hamsters from many of the BIO strains accept MHA skin grafts indefinitely, fail to respond to MHA cells in mixed lymphocyte reactions, and type serologically as identical to MHA. We concluded that there must have been very little alloantigenic variation present among the three littermate hamsters caught in 1930 from which the local inbred and BIO lines are derived. Moreover, after 40 years there has been little, if any, mutational change in this restricted gene pool, at least as it can be expressed in histocompatibility assays. These findings address the issue of the extent of alloantigenic diversity among Syrian hamsters.

Animals↗

PubMed2005

Immunogenetic determinants of preeclampsia and related pregnancy disorders: a systematic review.

OBJECTIVE: We sought to systematically review the impact of immunogenetic factors, specifically human leukocyte antigen (HLA) allele frequencies, maternal homozygosity, couple sharing, and maternal-fetal sharing, on the risk of preeclampsia and intrauterine growth restriction. DATA SOURCES: A computerized search of PubMed databases from 1975 to 2003 was performed with the terms "preeclampsia," "eclampsia," "intrauterine growth restriction," and "human leukocyte antigens" and limited to studies of human subjects in English. No restrictions were placed on study design. All bibliographies were cross-referenced to identify additional pertinent studies. METHODS OF STUDY SELECTION: Titles and abstracts were reviewed carefully. Observational and basic science research studies were selected if their main objective was to assess the relationship of any aspect of HLA genotypes with preeclampsia and related disorders of pregnancy. TABULATION, INTEGRATION, AND RESULTS: Data were abstracted and tabulated from 22 original research studies. Meta-analytic techniques were not performed owing to variations in disease and exposure definitions as well as research methodologies. Studies that examined maternal, paternal, and fetal HLA allele frequencies, maternal homozygosity, and couple sharing yielded inconsistent results. Although the cumulative evidence points to the HLA-DR locus (particularly DR4) as a correlate of preeclampsia, it remains unclear whether any specific HLA allele, haplotype, or susceptibility gene in linkage disequilibrium with the HLA region is responsible. Although genetic evidence is suggestive of gene-gene interaction between mother and fetus, few studies have evaluated the influence of maternal-fetal HLA sharing. CONCLUSION: In the early 1990s, HLA genotypes were dismissed as possible etiologic factors for preeclampsia, based on studies that are heterogeneous with respect to study design, outcome, and exposure assessment. Many of these studies did not take into account the interactions between maternal, paternal, and infant genotypes. Thus, adequately powered studies designed specifically to assess the effect of maternal-fetal HLA sharing on risk of preeclampsia are needed.

Adult↗

PubMed2006

Identification of a novel HLA-A allele (A*1115) in the UK National External Quality Assessment Schemes for Histocompatibility and Immunogenetics' Educational Cell Exchange.

The novel allele, HLA-A*1115, was identified in an 'Educational Scheme' sample (ED03/03 - from a north-western European Caucasoid blood donor) distributed by the UK National External Quality Assessment Schemes for Histocompatibility and Immunogenetics. ED03/03 was typed by serology, the polymerase chain reaction using sequence-specific primers and sequence-based typing. A*1115 is most similar to A*110101 with a single mismatch (G to C) at constant position 565, leading to a conservative amino acid change from valine (GTG) to leucine (CTG) at codon 165 in the alpha(2) domain. This substitution has not been reported for any other HLA class I allele so far. The HLA-A*1115-bearing haplotype was B*350101; Cw*040101; DRB1*140101; DRB3*020201; DQA1*010401; DQB1*0503; DPA1*0103/07; DPB1*030101. Extensive serological typing indicated that this allele essentially encodes a 'normal' HLA-A11 specificity.

Alleles↗

PubMed1965

SEROLOGIC CODES: INTERPRETATION OF IMMUNOGENETIC SYSTEMS.

Transformations of serologic reaction patterns into verbal codes are analyzed. Two equally consistent and complementary models are compared. A model based on the assumption that antibodies are complex (cross-reacting) permits simpler, more uniform, and less prejudicing interpretations of immunogenetic systems than when antibodies are regarded as simple (specific).

Antibodies↗

PubMed1986

An epidemiological study of the immunogenetic aetiology of pre-eclampsia.

A population based case-control study of the association between dissimilar race of parents and risk of pre-eclampsia was undertaken. Data on singleton births in Washington State in 1981 were available for analysis from birth certificates. All mothers recorded as having pre-eclampsia and a sample of mothers who did not have pre-eclampsia were eligible for comparison with regard to racial dissimilarity between parents. Women with previously diagnosed cardiovascular disease and diabetes were excluded. After the confounding effects of maternal parity and race had been controlled for, racial dissimilarity of parents was associated with a 1.9-fold increased risk of pre-eclampsia (95% confidence interval = 1.3-2.8; number of cases = 973, of controls = 1480). This finding supports the theory that genetic dissimilarity of father and mother has a role in pre-eclampsia and is consistent with an immunogenetic aetiology.

Birth Intervals↗

PubMed1998

The immunogenetics of human infectious diseases.

Twin and adoptee studies have indicated that host genetic factors are major determinants of susceptibility to infectious disease in humans. Twin studies have also found high heritabilities for many humoral and cellular immune responses to pathogen antigens, with most of the genetic component mapping outside of the major histocompatibility complex. Candidate gene studies have implicated several immunogenetic polymorphisms in human infectious diseases. HLA variation has been associated with susceptibility or resistance to malaria, tuberculosis, leprosy, AIDS, and hepatitis virus persistence. Variation in the tumor necrosis factor gene promoter has also been associated with several infectious diseases. Chemokine receptor polymorphism affects both susceptibility ot HIV-1 infection and the rate of progression to AIDS. Inactivating mutations of the gamma-interferon receptor lead to increased susceptibility to typical mycobacteria and disseminated BCG infection in homozygous children. The active form of vitamin D has immunomodulatory effects, and allelic variants of the vitamin D receptor appear to be associated with differential susceptibility to several infectious diseases. NRAMP1, a macrophage gene identified by positional cloning of its murine homologue, has been implicated in susceptibility to tuberculosis in Africans. Whole genome linkage analysis of multi-case families is now being used to map and identify new loci affecting susceptibility to infectious diseases. It is likely that susceptibility to most microorganisms is determined by a large number of polymorphic genes, and identification of these should provide insights into protective and pathogenic mechanisms in infectious diseases.

Animals↗

PubMed1975

Information processing in immunogenetic analysis. V. Some irregularities caused by simple-complex transformation of T universes.

A fairly uncomplicated T4 universe does give rise to a considerably complicated simple-complex image with several complexities regularly observed together in many immunogenetic systems. The present model thus 'explains' absence of antithetical alleles, absence of 'dosage' effects, presence of considerable quantitative variations of 'one and the same antigen' and peculiar 'non-autoantibodies'. These phenomena are exemplified for the Rh system with regard to the D--Du antigens, absence of d antigens, absence of clear-cut dosage between D/D and D/D and D/d samples as well as anti-D formation in seemingly 'normal Rh(+)' individuals.

Computers↗