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PubMed1999

Human leukocyte antigen class II and III alleles and severity of hepatitis C virus-related chronic liver disease.

Hepatitis C outcome is likely related both to viral factors and host's immune responses. We correlated the severity of liver disease with human leukocyte antigen (HLA) genes (C4A, C4B, TNFA, TNFB, DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, TAP1, and TAP2) in three groups of subjects: 99 patients with chronic hepatitis, 41 asymptomatic carriers, and 179 uninfected controls. Patients with grade/stage 3 to 4 hepatitis significantly differentiated for their low frequency of alleles TNFB*1, DRB1*1104, and DRB3*03, which had a protective role, and high frequency of allele DRB1*1001, which was associated with disease severity. HLA-DRB*11 subtypes were differentially distributed: DRB1*1104 was most frequent in carriers, whereas DRB1*1101 was more frequent in patients. The TAP1C,2A haplotype was also underrepresented in patients with respect to controls. Finally, a decrease of heterozygous subjects was observed in patients with respect to carriers at the DQB1 locus. Multivariate analysis by correspondence analysis and multiple logistic regression indicated that age, sex, and hepatitis C virus (HCV) type were the strongest risk factors; however, some immunogenetic variables (TNFB*1, DRB1*1104, and DRB3*03) showed an independent contribution, especially in comparing patients with extreme manifestations of disease. The involvement of different genes in various HLA subregions suggests that anti-HCV responses are modulated by a complex gene interplay rather than by single alleles.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2001

The new World Health Organization classification of lymphomas: the past, the present and the future.

The REAL Classification of lymphomas, proposed in 1994, represents a new paradigm in lymphoma classification, consisting of a list of biologic entities defined by clinicopathologic and immunogenetic features. The non-Hodgkin's lymphomas comprise precursor lymphoblastic and mature cell neoplasms of B, T or putative natural killer cell lineage. An individual entity can exhibit a range of morphologic appearances and a range of clinical behavior. The categories in Hodgkin's lymphomas are identical to the widely used Rye classification except for the additional of a new category termed 'lymphocyte-rich classical Hodgkin's lymphoma'. The REAL classification has been validated by a major multi-institutional study involving 1378 cases (The Non-Hodgkin's Lymphoma Classification Project), showing that it is both reproducible and clinically relevant. The new World Health Organization classification of hematopoietic and lymphoid tumors, to be published in 2001, is a joint project of the Society for Hematopathology and European Association of Hematopathologists, under the auspices of the World Health Organization. This classification includes not only lymphoid neoplasms, but also myeloid, histiocytic and mast cell neoplasms. The lymphoma component of the classification is merely an update of the REAL classification, with minor changes necessitated by new information that has become available since its proposal. A conceptual grouping of the non-Hodgkin's lymphomas into four categories (indolent, aggressive, highly aggressive, and localized indolent) is also presented in this review. The next major impetus influencing the approach to lymphoma classification will no doubt be molecular genetics, in particular DNA microarrays, which will yield an enormous amount of new data that will aid in the understanding of lymphomas.

Forecasting↗
PubMed1976

Canine testicular tumors: epidemiologic features of 410 dogs.

Histologically confirmed testicular tumors were diagnosed in 410 dogs from 12 North American veterinary university hospitals and clinics. Three tumor-cell types, Sertoli cell tumor, interstitial cell tumor and seminoma, were about equally represented. Several breeds were identified with high risk for different testicular tumor-cell types. Cytogenetic and immunogenetic studies of these dog families could offer leads applicable to familial testicular cancer in man. The multiplicity of breeds within the series suggests that, as in man, other factors, in addition to hereditary, play a role in etiology. Cryptorchid dogs appear to have a 13.6 times higher risk of testicular tumor than normal dogs. Additionally, male dogs with an inguinal hernia have an increased risk (4.7) of testis tumors. There were no detectable excesses of other urogenital anomalies or urogenital tumors among the series. The Shetland Sheepdog is suggested as an appropriate model for research into the mechanisms responsible for testicular maldescent and tumorigenesis.

Age Factors↗
PubMed1979

HLA antigens in familial Hodgkin's disease.

In a study of 13 families prone to Hodgkin's disease, the probands showed significant excesses of the HLA antigens Bw35 (7 cases) and Bw37 (3 cases). Although based on a small number of patients, the results suggest that immunogenetic mechanisms account at least partly for the familial predisposition to Hodgkin's disease.

Adolescent↗
PubMed1987

HLA studies of endemic African Kaposi's sarcoma patients and matched controls: no association with HLA-DR5.

In the search for a genetic factor involved in the etiology of Kaposi's sarcoma, several studies have recently focused on a significantly increased HLA determinant, DR5, as well as a decreased DR3, among patients with both the classical and the AIDS-related form of Kaposi's sarcoma. To test the consistency of this phenomenon, we analysed the frequencies of HLA immunogenetic markers in 23 histologically confirmed Kaposi's sarcoma patients from Central Africa, where this tumor is endemic, and a local sex- and tribe-matched control group. No definite association was observed for any of the HLA antigens, including DR5 and DR3. We were not able to support the hypothesis that the same HLA-associated immune susceptibility factors are involved in all types of Kaposi's sarcoma.

Acquired Immunodeficiency Syndrome↗
PubMed1989

Drug delivery systems--2. Site-specific drug delivery utilizing monoclonal antibodies.

Monoclonal antibodies (MAbs) are purified antibodies produced by a single clone of cells. They are engineered to recognize and bind to a single specific antigen. Accordingly, when administered, MAbs home in on a particular circulating protein or on cells that bear the correct antigenic signature on their surfaces. It is the specificity of MAbs that has made them valuable tools for health professions. Following the discovery of Kohler and Milstein regarding the method of somatic cell hybridization, a number of investigators have successfully adopted this technique to obtain T-lymphocyte hybrid cell lines by fusion of activated T (thymus derived) lymphocytes with a T lymphoma cell line leading to an immortalization of a specific differentiated function. The hybrids thus obtained were subsequently shown to produce homogeneous effector molecules with a wide variety of immune functions such as enhancement or suppression of antibody responses, generation of helper T cells, suppressor T cells and cytotoxic T cells. Study of these regulatory molecules has been further shown to provide a greater insight into the genetic, biochemical and molecular mechanisms responsible for cellular development, and the interaction and triggering of various cell types. The successful application of hybridoma technology has now resulted into several advances in the understanding the mechanism and treatment of diseases, especially cancer and development of vaccines, promotion of organ transplantation and therapy against parasites as well. Since monoclonal antibodies could be made in unlimited supply, they have been used in genetic studies such as mRNA and gene isolation, chromosomal isolation of specific genes, immunoglobulin structure, detection of new or rare immunoglobulin gene products, structural studies of enzymes and other proteins and structural and population studies of protein polymorphisms. In some instances, the monoclonal antibodies have been found to replace conventional antisera for studies of chromosome structure and function, gene mapping, embryogenesis, characterization and biosynthesis of developmental and differentiation antigens. These antigens are those that are specific for various cell types and tissues, species specific antigen, antigens involved in chemotaxis, immunogenetics and clinical genetics including genetically inherited disorders, chromosome aberrations and transplantation antigens. Besides these monoclonal antibodies, their complexes have recently been investigated as exquisitely sensitive probes to be guided to target cells or organs. They have been used to deliver cytotoxic drugs to malignant cells or enzymes to specific cell types.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed1990

Sex-changing fish as a manipulable system for the study of the determination, differentiation, and stability of sex in vertebrates.

Two fundamental questions concerning vertebrate sexuality are what controls the stability of gender throughout the life of an individual and what are the genetic, immunological, and endocrine factors controlling sex determination and differentiation. Significant aspects of both issues cannot readily be examined experimentally in standard laboratory vertebrates partly because these species are gonochores and provide no opportunity to examine plasticity in sexual systems, and partly because few means have yet been found experimentally to manipulate immunogenetic factors, such as sex-specific DNA or cell-surface antigens, thought to be involved in the determination and differentiation of sex. Behaviorally induced adult sex change in hermaphroditic fishes constitutes a unique system of controlled sexual plasticity in which these issues can be addressed. Several species of tropical marine fishes satisfy the requirements for an appropriate laboratory experimental animal. Sex change in them is known to involve alterations in external coloration, behavior, gonadal structure, hormonal enzyme activity, levels of circulating steroid hormones, and concentrations of H-Y antigen. Genetic, immunological, endocrine, and behavioral factors interact with one another causally in ways permitting relatively simple manipulations simultaneously to analyze the network of sequential causes for sex change and to address the above-stated fundamental issues concerning sexuality generally in vertebrates. Since sex change can be started at will, these fish species become powerful model systems for the analysis of basic mechanisms of sex determination, differentiation, and long-term stability.

Animals↗
PubMedDate not supplied

IMGT standardized criteria for statistical analysis of immunoglobulin V-REGION amino acid properties.

IMGT, the international ImMunoGeneTics information system(R) (http://imgt.cines.fr) is a high-quality integrated information system specializing in immunoglobulins (IG), T cell receptors (TR) and major histocompatibility complex (MHC) of human and other vertebrates. IMGT comprises IMGT/LIGM-DB, the comprehensive database of IG and TR sequences from human and other vertebrates (76 846 sequences in September 2003). In order to define the IMGT criteria necessary for standardized statistical analyses, the sequences of the IG variable regions (V-REGIONs) from productively rearranged human IG heavy (IGH) and IG light kappa (IGK) and lambda (IGL) chains were extracted from IMGT/LIGM-DB. The framework amino acid positions of 2474 V-REGIONs (1360 IGHV, 585 IGKV, 529 IGLV) were numbered according to the IMGT unique numbering. Two statistical methods (correspondence analysis and hierarchic classification) were used to analyze the 237 framework positions (80 for IGHV, 79 for IGKV, 78 for IGLV), for three properties (hydropathy, volume and chemical characteristics) of the 20 common amino acids. Results of the analyses are shown as standardized two-dimensional representations, designated as IMGT Colliers de Perles statistical profiles. They provide a characterization of the amino acid properties at each framework position of the expressed IG V-REGIONs, and a visualization of the resemblances and differences between heavy and light, and between kappa and lambda sequences. The standardized criteria defined in this paper, amino acid positions and property classes, will be useful to study the mutations and allele polymorphisms, to establish correlations between amino acids in the IG and TR protein three-dimensional structures and to extract new knowledge from V-like domains of chains, other than IG and TR, belonging to the immunoglobulin superfamily.

Amino Acid Sequence↗
PubMed2004

Association of TNF-beta polymorphism with disease severity among patients infected with hepatitis C virus.

The pathogenesis of chronic hepatitis C virus (HCV) infection remains unclear. Tumour necrosis factor alpha (TNF-alpha) is alleged to contribute in the pathogenesis of chronic HCV infection. Single nucleotide polymorphism in TNF-alpha and -beta genes could influence the outcome of HCV infection. The aim was to study single nucleotide polymorphism in TNF-alpha promoter region and Nco I polymorphisms in the TNF-beta gene in patients with chronic hepatitis C. Fifty-two patients with histologically proven chronic hepatitis, who had raised ALT levels (>1.5 x ULN) and were HCV RNA positive, were studied. Genotyping of -308 promoter variant of TNF-alpha was performed by PCR with primers that incorporated an Nco I restriction site. For PCR typing of the TNF-beta Nco I restriction fragment length polymorphism, sequence specific primers were used. Polymorphism in the TNF-alpha G/G, G/A and A/A allele was not different between HCV patients and healthy controls. TNF-beta A/A allele was significantly more common (P = 0.02) in patients (28.8%) as compared to controls (12.8%), whereas no significant difference was observed for TNF-beta G/A and G/G alleles [corrected]. Nco I TNF-beta A/A was strongly associated with -308 TNF-alpha G/G (RR of HCV persistence = 4.9), indicating possible linkage between TNF-beta A/A and TNF-alpha G/G allele. Patients with severe hepatic fibrosis more frequently had the TNF-beta A/A allele as compared to patients with mild disease (P = 0.04). Immunogenetic factors, such as single nucleotide polymorphisms in TNF-beta (A/A allele), may affect the natural course of HCV infection, in particular, the disease progression. Larger studies including cytokine expression profiles are needed to fully understand the contribution of the polymorphisms described in the pathogenesis of chronic hepatitis C.

Alleles↗
PubMed2006

Association of genetic variations in CCR5 and its ligand, RANTES with clearance of hepatitis B virus in Korea.

Immunogenetic factors may play a role in determining the susceptibility of an individual to viral infection. The aim of current study was to investigate the association of clearance of hepatitis B virus (HBV) with promoter polymorphisms within the CC chemokine receptor 5 (CCR5) and its major ligand, regulated upon activation, normal T cells expressed and secreted (RANTES) genes. Five chemokine system polymorphisms (CCR5 Delta32, CCR5 promoter 59029G/A, 59353C/T, RANTES -403G/A, and -28C/G) were studied in a total of 698 subjects. The carriage of each genetic variant was compared among "spontaneously recovered" group (n = 243), "chronic carrier" group (n = 349), and "unexposed" group (n = 106). CCR5 59029G promoter variant was associated with clearance of HBV infection in an acute phase (OR = 1.71, P = 0.006, dominant model; OR = 2.17, P < 0.001, recessive model) and amelioration of hepatic inflammation (P = 0.003) with the control of HBV replication (P = 0.04) in chronic carriers. Interestingly, CCR5 59029 was linked completely to CCR5 59353, and CCR5 Delta32 homozygosity or heterozygosity was not found in any Korean patient. No association was seen with RANTES polymorphisms at position -403 and -28. The CCR5 59029G/CCR5 59353T polymorphism may play a role in the clearance of HBV infection.

Adult↗
PubMed1992

Long-term survival of mouse corpus callosum grafts in neonatal rat recipients, and the effect of host sensitization.

Previous studies have suggested that the incidence of spontaneous rejection among immunogenetically mismatched neural transplants in neonatal recipients varies significantly depending on the cellular composition of the graft material. For example, neuron-rich grafts of embryonic mouse retina generally survive for extended periods without showing signs of rejection after implantation into neonatal rats, whereas cortical xenografts, which contain abundant glial and endothelial cells as well as neurons, typically undergo rejection 4-6 weeks after implantation. To determine whether the presence of donor glia is responsible for this high incidence of spontaneous rejection, we examined the fate of a non-neuronal graft material composed predominantly of xenogeneic glial cells (post-natal day 3, PD3, CD-1 mouse corpus callosum) implanted into the mesencephalon of PD1 Sprague-Dawley rats. The distribution and survival of donor astrocytes were assessed using a monoclonal antibody specific for a mouse astrocyte surface antigen, M2. Thirteen of 16 animals sacrificed within 2 months of implantation had detectable transplants. In these animals, M2-positive cells frequently migrated well away from body of the graft, clustering in large numbers in several characteristic regions of the host brain. Unlike cortical grafts of similar age, the vast majority (93%) of callosal transplants showed no histological signs of rejection or major histocompatibility complex antigen expression in and around the transplant-derived cells. As previously noted in the neonatal retinal transplant paradigm, however, well-integrated 1-month-old corpus callosum grafts could be induced to reject by appropriate sensitization of the host immune system, implying that the host was not immunologically tolerant to the foreign neural graft. With longer survival times in unsensitized hosts, a progressively smaller percentage of animals had detectable donor astrocytes (5 of 10 animals at 3 months postimplantation and 4 of 16 animals at 4 months); in those 9 animals with surviving grafts, only small numbers of M2-positive cells were seen within the graft bed and surrounding host brain. However, only 2 of the 26 "long-term" animals showed evidence of graft rejection. These results indicate that mouse astrocytes show characteristic patterns of migration into the host brain when implanted into neonatal rats; however, these xenogeneic cells have a limited duration of survival. The infrequency with which even subtle signs of spontaneous rejection were detected in animals that had received corpus callosum xenografts suggests that an immune-mediated process is unlikely to be responsible for the time-dependent elimination of the donor astrocytes.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed1994

Pathogenesis of axonal Guillain-Barré syndrome: hypothesis.

Pathologic studies of acute motor axonal neuropathy show strong evidence of the presence of primary axonal Guillain-Barré syndrome (GBS). The pathogenesis of axonal GBS is speculated to be as follows: (1) Infection by an organism induces the high production of a cross-reactive antibody between an infectious agent and the motor nerve axon in patients with a particular immunogenetic background. (2) The antineural antibody binds to the motor nerve terminals, thereby inhibiting motoneuron excitability and causing muscular weakness. (3) Binding of the antineural antibody, or subsequent functional impairment of the motoneurons, causes the motor axon to degenerate from the terminals. (4) In severe cases, extensive axonal loss and central chromatolysis of the motoneurons occur. These inhibit recovery and lead to a poor functional prognosis.

Animals↗
PubMed1993

The role of the major histocompatibility complex in autoimmunity.

In the case of many autoimmune diseases, HLA genes are the genes most closely associated with disease susceptibility. Recent major advances in the ability to determine particular HLA genotypes in individuals now allow us to identify the precise alleles most closely associated with disease. Rheumatoid arthritis, long known to be associated with HLA-DR4, provides a good model for review of this progress, demonstrating how methodologic advances have led to an improved understanding of the immunogenetic basis of this disease, with implications for both pathogenesis and potential therapeutic interventions.

Alleles↗
PubMed1994

Cooperative association of T cell beta receptor and HLA-DQ alleles in the production of anti-Ro in systemic lupus erythematosus.

The immunogenetics of the autoantibody response to Ro (or SS-A) have been explored in patients with systemic lupus erythematous. Data show that alleles of the T cell beta receptor and HLA-DQ loci are cooperatively associated with the presence of anti-Ro autoantibodies in systemic lupus erythematosus. Identification of HLA-DQ by oligonucleotide probe binding to polymerase chain reaction products demonstrates that the combination of DQB1*0201 and one of DQA1*0101, DQA1*0102, or DQA1*0103 is associated with anti-Ro. Patients possessing a particular pair of T cell receptor beta restriction enzyme polymorphisms along with these specific HLA-DQ alleles produce quantitatively more anti-Ro as measured by a sensitive solid-phase immunoassay than patients without these T cell receptor and DQ alleles. Other work has shown that the autoimmune response is directed against the human Ro antigen. These results are consistent with a central role in the disregulation of autoimmunity involving a trimolecular complex composed of the autoantigen bound by a HLA-DQ molecule which, together, are bound in turn by T cells which express a particular subset of T cell receptors.

Alleles↗
PubMed1994

Antigen-induced recruitment of eosinophils: importance of CD4+ T cells, IL5, and mast cells.

Eosinophils of sensitized mice readily recruit to the site of antigen challenge. In the present study, experiments were performed to determine the involvement of different cell types in the antigen-induced recruitment of eosinophils. We demonstrated that a single treatment with anti-L3T4 monoclonal antibody (mAb) on the day of allergen challenge significantly decreased antigen-induced recruitment of eosinophils. Treatments with anti-L3T4 mAb during the sensitization period also caused a substantial reduction in the migration of eosinophils into the site of challenge with antigen. Thus, it appears that both stages of eosinophil recruitment, sensitization and antigen-challenge, are dependent upon the presence of L3T4+ T cells. Moreover, while treatments with anti-IL5 mAb blocked eosinophil migration, anti-IL2 mAb failed to alter the antigen-induced recruitment of eosinophils. In addition, significant numbers of eosinophils from the mast-cell-deficient mice were found to migrate into the peritoneal cavities upon allergen challenge. Eosinophil migration was also observed in several mouse strains of different H-2 haplotypes. The present findings suggest that CD4+ T cells and IL5 but not IL2 may play important roles in modulating the recruitment of eosinophils. Moreover, the involvement of mast cells does not appear to be essential for eosinophil migration. Finally, the development of antigen-induced recruitment of eosinophils is probably not under the immunogenetic regulation by genes within the H-2 complex.

Allergens↗
PubMed2001

Rainbow trout offspring with different resistance to viral haemorrhagic septicaemia.

To study immunological and immunogenetical parameters related to resistance against viral haemorrhagic septicaemia (VHS), attempts to make gynogenetic strains of rainbow trout selected for high and low resistance to VHS were initiated in 1988. The first gynogenetic generation of inbreeding resulted in the more resistant offspring E8 and the low resistance offspring K3; the K3 offspring having the same high mortality as the susceptible reference strain of outbred trout in infection trials. A second gynogenetic generation derived from the E8 strain resulted in some low resistance offspring, and two gynogenetic families in which all, or nearly all, fish survived challenge with VHS virus. In this study, an attempt to associate the distribution of different MHC class II genotypes with low and high resistance gynogenetic offspring was performed. Two different MHC haplotypes could be distinguished, and in both low and high resistance families all three genotypes were found, which could be explained by the fact that the mother fish carried the heterozygous genotype. Although no significant differences in MHC II genotypes were found between the high and low resistance offspring, a significantly different distribution of haplotypes in the low resistance offspring was observed, that could not be explained by a one- or two-locus model.

Animals↗
PubMed1993

Highly informative typing of the human TNF locus using six adjacent polymorphic markers.

The human tumor necrosis factor locus (TNF locus) is located within the major histocompatibility complex between the class III genes and HLA-B. We recently characterized and studied two closely linked highly informative dinucleotide repeats (AC/GT)n (designated TNFa) and (TC/GA)k (designated TNFb) in the upstream region of the human TNF-beta (lymphotoxin) gene. We also characterized two linked (TC/GA) and (TC/GA)-like repeats located downstream of the TNF-alpha gene, designated TNFe and TNFd, respectively. Here, we combine these four markers together with a biallelic TC/GA repeat in the first intron of the TNF-beta gene (TNFc) and a biallelic NcoI RFLP (TNFn) to type 105 cell lines from the American Society of Histocompatibility and Immunogenetics Workshop and the Center for Human Polymorphism Studies reference panels of HLA typing cell lines. These 6 polymorphic markers define 35 distinct TNF haplotypes and together with the reference panel can be used for disease association and population genetics studies.

Alleles↗
PubMed1997

IL-2-induced proliferative response is controlled by loci Cinda1 and Cinda2 on mouse chromosomes 11 and 12: a distinct control of the response induced by different IL-2 concentrations.

Lymphocytes of mouse strains BALB/cHeA (BALB/c) and STS/A (STS) differ in the IL-2-induced proliferative response, STS being a high and BALB/c a low responder in the range of concentrations 125-2000 IE/ml. We analyzed the genetic basis of this strain difference using the recombinant congenic (RC) strains of the BALB/c-c-STS/Dem (CcS/Dem) series. This series comprises 20 homozygous strains all derived from two parental inbred strains: the "background" strain BALB/c and the "donor" strain STS. Each CcS/Dem strain contains a different, random set of approximately 12.5% genes of the donor strain STS and approximately 87.5% genes of the background strain BALB/c. In this way, the STS genes controlling the IL-2-induced response became separated into individual CcS/Dem strains, as indicated by differences in the magnitude of the IL-2-induced response among CcS/Dem strains (M. Lipoldová et al., 1995, Immunogenetics 41: 301-311). To map some of these genes, we tested F2 hybrids between one of the high-responder RC strains, CcS-4, and the low-responder parental strain BALB/c. We found that the response to high IL-2 concentrations is controlled by a locus, Cinda1 (cytokine-induced activation 1), on chromosome 11 near the marker D11Mit4. The response to a lower dose of IL-2 tested on lymphocytes of the same mice was found to be controlled by another locus, Cinda2, in the centromeric part of chromosome 12, the higher response being linked to the STS allele of the marker D12Mit37. Understanding the action of genetic factors, such as Cinda1 and Cinda2, that control T cell function is expected to contribute to the efficient analysis of the genetic control of susceptibility to infections and autoimmune diseases.

Alleles↗