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PubMedDate not supplied

The immunogenetics of resistance to Trichostrongylus colubriformis and Haemonchus contortus parasites in sheep.

Three possible immunogenetic markers for resistance to intestinal parasites in sheep have been studied. Allotypes of the major histocompatibility complex (MHC) of the sheep have been investigated as markers, using serological typing or gene probes, for associations between allotypes and resistance to parasites in selected high responder and low responder lines of sheep. Only the serologically-determined class I ovine leucocyte antigen (OLA) types SY 1a and SY 1b have been found to be consistently associated with increased resistance to Trichostrongylus colubriformis, but this association has not extended to the immunologically distinct Haemonchus contortus parasite. Gene probes of the sheep DRB, DQB and DQA MHC class II loci have detected animals with increased susceptibility to T. colubriformis. Eosinophilia was investigated as a marker and found to be associated with increased resistance to parasites in lines of Australian Merinos and New Zealand Romneys selected for resistance on the basis of low faecal egg count. Blood eosinophilia was distinct from eosinophil infiltration of the gut which was poorly associated with resistance. The mechanism of parasite resistance appeared to involve the release of vasoactive amines and leukotrienes into intestinal mucus, since the selected high responder sheep to T. colubriformis and H. contortus had significantly increased amounts of these agents in their gut mucus, compared with selected low responder or random-bred sheep. Antibodies to T. colubriformis and H. contortus have also been used as markers to select high responder sire groups of lambs in contact with the parasites, for the first time, at weaning. This assay had the advantage of detecting distinct antigens for the two parasites, which would allow resistance to the species of parasite to be selected in the lambs. Vaccines have been developed against H. contortus using 'novel' gut antigens from the parasite, but variable responsiveness of the host sheep seemed to result in varying degrees of protection which were stimulated by these vaccines.

Animals↗
PubMed2001

Heterogeneous immunogenetic background in Japanese adults with myasthenia gravis.

The aim of this study was to elucidate the roles of human leukocyte antigen (HLA) class II genes in disease susceptibility in Japanese adult patients with myasthenia gravis (MG). A number of studies have shown that MG is correlated with DR3 in Caucasians. In Japanese, infantile MG is associated with DR9, but the HLA class II alleles associated with adult MG remains unclear. HLA-DRB1 and DQB1 alleles were determined by genotyping in 75 Japanese adult patients with MG and in 115 race-matched healthy adults. No statistically significant difference was observed in the overall prevalences of DRB1 and DQB1 alleles between MG patients and healthy controls, even when the patients and controls were stratified on the basis of their gender. MG patients with DQB1*0604 were younger and those with DQB1*0402 were older at disease onset than those without (P=0.03 and 0.008, respectively). Concomitant autoimmune thyroid disease was associated with DRB1*0803 (P=0.0009, corrected P=0.04). In addition, anti-acetylcholine receptor antibody levels were significantly higher in patients with DQB1*0604 than in those without (P=0.045). These findings indicate that immunogenetic backgrounds in Japanese adult MG patients are heterogeneous and are apparently different from those in Caucasian patients.

Adult↗
PubMed2003

Immunogenetic correlates for Chlamydia trachomatis-associated tubal infertility.

OBJECTIVE: To understand immunogenetic mechanisms of Chlamydia trachomatis infection and tubal scarring. METHODS: We measured and compared previously significant human leukocyte antigen (HLA) class II DQ alleles, their linked DRB genes, and polymorphisms in selected cytokine genes (tumor necrosis factor alpha-308 promoter; transforming growth factor beta1-10 and -25 codons; interleukin 10-1082, -819, and -592 promoters; interleukin 6-174 promoter; and interferon gamma+874 codon 1) among Kenyan women with confirmed tubal infertility with and without C trachomatis microimmunofluorescence antibody. RESULTS: Two class II alleles, HLA-DR1*1503 and DRB5*0101, were detected less commonly in C trachomatis microimmunofluorescence seropositive women than in C trachomatis microimmunofluorescence seronegative women with infertility (0% versus 20%; odds ratio [OR] 0.05; 95% confidence interval [CI] 0, 0.7, and 6% versus 26%; OR 0.2; 95% CI 0.02, 1.0, respectively). These alleles are commonly linked as a haplotype at the DRB locus. This finding could not be explained through linkage disequilibrium with the other studied HLA or cytokine genes. CONCLUSION: These alleles may lead to an immunologically mediated mechanism of protection against C trachomatis infection and associated tubal damage, or alternatively increase risk for tubal scarring due to another cause.

Adult↗
PubMedDate not supplied

Immunogenetics of disease resistance in fish: a comparative approach.

The study of the genetic regulation of infectious disease resistance depends on the availability of inbred lines or selection lines of the species under investigation. The small numbers of such lines of fish has limited the strategy in teleosts to studies of associations between disease and immune/health traits. Attempts to correlate genetic differences in immune responsiveness with survival after experimental challenge with pathogenic bacteria have failed to define immune parameters that can substantially aid selection for genetic resistance to infectious diseases. Advantages and disadvantages of selection strategies as illustrated by mouse and chicken models are discussed. In this study we summarize the present situation in fish as well as our attempts to develop gynogenetic lines of carp for immunogenetic research.

Animals↗
PubMed1986

Subacute cutaneous lupus erythematosus. Clinical, serologic, and immunogenetic studies of forty-nine patients seen in a nonreferral setting.

Subacute cutaneous lupus erythematosus has been clearly recognized as a distinct cutaneous manifestation of lupus erythematosus. Two forms have been described, an annular erythema and a papulosquamous variant. Previous data have suggested that these patients have a high incidence of mild to moderate systemic disease, anti-Ro (SS-A) antibodies, and human lymphocyte antigen (HLA)-DR3, particularly the annular form. We studied forty-nine patients with subacute cutaneous lupus erythematosus seen in local private practices in our area. Lesions of chronic cutaneous lupus erythematosus were seen in 34.8% of our patients. Twenty-five patients (51%) fulfilled the American Rheumatism Association criteria for the classification of systemic lupus erythematosus, and renal disease was present in nine of these patients (including 3 with decreased function). Antibodies to Ro (SS-A) and/or La (SS-B) were present in only sixteen patients, and HLA-DR3 was found in only seventeen patients. Twenty-two patients had inactive cutaneous disease at follow-up. We concluded that our patient population with subacute cutaneous lupus erythematosus skin lesions is less distinctive than previous literature suggests. The serologic and immunogenetic correlates were not demonstrated. The full range of lupus erythematosus-related disease was seen, although most patients follow a benign course.

Acute Disease↗
PubMed1999

Immunogenetic mechanisms of antibody response to measles vaccine: the role of the HLA genes.

Measles is the most transmissible human disease known to date. In the prevaccine era, virtually every member of each birth cohort was infected with this virus, leading to substantial morbidity and mortality, with millions of deaths on a global scale. At the current time, measles causes an estimated 1 to 1.5 million deaths per year world-wide. Since the advent of live, attenuated measles vaccines measles has been controlled, but not eradicated. Central to the goal of measles eradication are data relating to the influence of immunogenetics on vaccine immunogenicity. In this paper, the results of studies are reviewed executed in my laboratory examining the role of the class I and II HLA genes on the antibody response to measles vaccine.

ATP Binding Cassette Transporter, Subfamily B, Mem↗
PubMed2003

Immunogenetics of killer-cell immunoglobulin-like receptors.

The immunogenetics of cell-surface antigens began with the study of red cells and then moved onto the white cells. HLA class I antigens were analyzed on leukocytes and HLA class II antigens on B cells. In the last decade the natural killer (NK) cell has become a target for immunogeneticists, in particular the family of genes encoding the killer-cell immunoglobulin-like receptors (KIRs).

Animals↗
PubMed1972

Immunogenetic model.

Different and equally legitimate modes of interpreting serologic reactions will considerably change the image of reality. Some principles of such transformations are briefly outlined and applied to immunogenetic systems.

ABO Blood-Group System↗
PubMed2004

Immunogenetic analysis of gastric MALT lymphoma-like lesions induced by Helicobacter pylori infection in neonatally thymectomized mice.

Most gastric mucosa-associated lymphoid tissue (MALT) lymphomas are caused by Helicobacter pylori (H. pylori) infection. We previously reported that acquired lymphoid follicles with germinal centers were induced by H. pylori infection in neonatally thymectomized (nTx) mice. In the present study, we developed gastric MALT lymphoma-like lesions in nTx mice by long-term H. pylori infection, and performed immunogenetic analyses. BALB/c mice were thymectomized on the 3rd day after birth. At 6 weeks of age, mice were orally infected with 10(8) H. pylori and serially killed 2, 4, 6, and 12 months later. Normal BALB/c and noninfected nTx mice served as controls. Follicle formation occurred after 2 months of H. pylori infection in the nTx mice. Follicle formation and infiltration of intraepithelial lymphocytes progressed in a time-dependent manner. Lymphoepithelial lesions, a characteristic feature of MALT lymphoma, also occurred in a time-dependent manner (100% at 12 months). Serum immunoelectrophoresis revealed a monoclonal band (M-protein) in 30% (3/10) of mice 6 months after infection. M-protein-positive mice had amplification of one or two IgM and/or IgG heavy-chain genes in the gastric B lymphocytes, as determined with polymerase chain reaction, suggesting mono- or oligoclonality. Overexpression of Bcl-X(L) protein was immunohistologically observed in the infiltrating B lymphocytes and in some follicular B lymphocytes in 80% (8/10) of the cases at 12 months. Thus, H. pylori infection is involved in the development of gastric MALT lymphoma-like lesions in nTx mice. Our mouse model is useful for clarifying the pathogenetic mechanism of gastric MALT lymphoma by H. pylori infection.

Animals↗
PubMed2002

An immunogenetic and molecular basis for differences in outcomes of invasive group A streptococcal infections.

The role of host genetic factors in conferring predisposition or protection in infectious diseases has become evident. Infection with group A streptococci causes a wide spectrum of disease ranging from pharyngitis to streptococcal toxic shock syndrome. The release of inflammatory cytokines triggered by streptococcal superantigens has a pivotal role in invasive streptococcal disease. However, individuals infected with the same strain can develop very different manifestations. We report here that the immunogenetics of the host influence the outcome of invasive streptococcal infection, and demonstrate the underlying mechanism for these genetic associations. Specific human leukocyte antigen class II haplotypes conferred strong protection from severe systemic disease, whereas others increased the risk of severe disease. Patients with the DRB1*1501/DQB1*0602 haplotype mounted significantly reduced responses and were less likely to develop severe systemic disease (P < 0.0001). We propose that human leukocyte antigen class II allelic variation contributes to differences in severity of invasive streptococcal infections through their ability to regulate cytokine responses triggered by streptococcal superantigens.

Fasciitis, Necrotizing↗
PubMed2001

Tumour necrosis factor 5' promoter single nucleotide polymorphisms influence susceptibility to rheumatoid arthritis (RA) in immunogenetically defined multiplex RA families.

Tumour necrosis factor (TNF) plays a pivotal role in the pathogenesis of rheumatoid arthritis (RA) and it has been shown that the TNF-lymphotoxin (TNF-LT) region influences susceptibility to RA. To investigate the role of the TNF-LT locus further, inheritance of TNF 5' promoter alleles was determined in multiplex RA families. Six previously defined TNF promoter single nucleotide polymorphisms (SNPs) (-238, -308, -376, -857, -863, -1031) were observed in these families and in addition, a heretofore undocumented adenine (A) to cytosine (C) substitution at position -572 relative to the transcription start site was defined. TNF 5' promoter SNPs were found to co-segregate with specific TNF microsatellite haplotypes. In particular, the SNP -308A allele was found to be inherited with the TNF a2, b3, c1, d1, e3 (H2) microsatellite haplotype (P < 0.001) which had previously been found to be associated with RA in individuals heterozygous for the HLA-DR 'shared epitope' (SE). When the data were stratified by the presence of the SE with further stratification according to SE DR subtypes and analysed by transmission disequilibrium test (TDT) for which offspring were assumed independent, the -308A and -857T alleles were found to be associated with RA in patients carrying the SE (P = 0.0076 and 0.0063 respectively). The data were further stratified to analyse for association in individuals homozygous or heterozygous for SE alleles. Results showed that the -308A allele was significantly associated with RA susceptibility in individuals heterozygous for the SE (P < 0.001) with the significance only occurring in patients carrying HLA-DR4 (P < 0.001), while the -857T allele was significant in individuals homozygous for the SE (P = 0.0039). Further analysis using the pedigree disequilibrium test (PDT) which conservatively adjusts for all sources of familial correlation except that conferred by linkage disequilibrium still indicated a significant role for the -308A and -857T alleles. These data provide evidence that TNF promoter SNPs may play an independent role in RA susceptibility in specific immunogenetically-defined groups of RA patients.

Arthritis, Rheumatoid↗
PubMed2001

Sex reversal of germ cell gametogenesis in chimeras of Pleurodeles waltl (urodele amphibian): genetic and immunogenetic demonstration using tolerance or rejection of skin grafts.

Viable chimeras were constituted with two cranial and caudal complementary pieces of embryos derived from two distinct histocompatible AA and BB strains, which were incompatible with each other. The embryonic gonads of the resulting chimeras constituted two homo- or heterosexual territories. In most heterosexual chimeras, the testicular territory sex reversed the ovarian territory. The offspring analysis of a male chimera conclusively proved that ZW germ cells derived from the posterior female piece differentiated into spermatozoa. Nevertheless, the opposite situation was also demonstrated with a female chimera in which ZZ germ cells derived from the anterior male piece differentiated into oocytes. These gametogenesis reversions were tested by genetic and immunogenetic analyses of chimera offspring. The phenomenon of tolerance or rejection of skin allo- and autograft was used as a marker of origin of the chimera germ cells, which had produced the offspring. Moreover, in the first stage of the study, the origin of the pieces of adult chimeras was determined using skin grafts. During this stage, the embryonic tolerance was confirmed by the acquisition of four pieces of pairs of chimeras, and by the preservation of skin immunogenicity that was derived from each piece of the chimeras.

Animals↗
PubMed2003

Familial collapsing glomerulopathy: clinical, pathological and immunogenetic features.

BACKGROUND: Collapsing glomerulopathy (CG) is an aggressive form of glomerular injury frequently seen in association with HIV infection, although it is also recognized in non-HIV patients as a primary disease. Until now, the occurrence of CG in a familial pattern has not been reported. METHODS: We studied five members of a family (siblings), admitted for evaluation of proteinuria and nephrotic syndrome. They had no other family history of renal disease. Blood samples for major histocompatibility complex (MHC) analysis were obtained from the five siblings, both parents and four relatives. RESULTS: Renal biopsy performed in four out of the five siblings revealed capillary collapse and retraction with visceral epithelial cell swelling and reabsorption droplets, consistent with CG. Two of the patients had suggestive symptoms of systemic lupus erythematosus, such as arthritis, rash, hair loss, moderate leukopenia and lymphopenia, low titers of antinuclear antibodies (ANA) and anti-SSA/Ro antibodies, but no immune complex deposition on renal biopsy. IgG serology for parvovirus B19 (PVB-19) was positive only in two siblings but polymerase chain reaction (PCR) was negative. Immunogenetic analysis showed that all patients shared the same MHC haplotype inherited from the mother. CONCLUSIONS: CG can present in a familial pattern. Since a similar MHC haplotype was observed in affected and non-affected members of the family, we conclude that the environment plays an important role in the development of the disease.

Adolescent↗
PubMedDate not supplied

The immunogenetics of resistance to malaria.

The genetic basis of susceptibility to malaria has been studied extensively using a variety of approaches. The protective role of several erythrocytic variants is now well established. More recently, there has been growing evidence that genes determining a variety of immune responses influence susceptibility to malaria. Some of these genes may specifically affect susceptibility to particular strains of malaria parasite. The recent adoption of genetic linkage approaches supplements the established strategy of assessing candidate gene polymorphisms in case-control studies. Immunogenetic associations with severe malaria have already suggested new approaches for intervention, and the highly polygenic nature of susceptibility to this disease suggests that the identification and analysis of new susceptibility and resistance loci should be worthwhile.

Adult↗
PubMed1989

Primarily chronic progressive and relapsing/remitting multiple sclerosis: two immunogenetically distinct disease entities.

HLA class II gene polymorphism was investigated in 100 patients with clinically definite multiple sclerosis (MS) by restriction fragment length polymorphism analysis of Taq I-digested DNA using DRB, DQA, and DQB cDNA probes. Twenty-six patients had primarily chronic progressive MS and 74 had relapsing/remitting MS. The latter group included patients with a secondary progressive evolution of symptoms. Both clinical forms of MS were found to be associated with the DRw15,DQw6 haplotype. In addition, primarily chronic progressive MS was positively associated with the DQB1 restriction fragment pattern seen in DR4,DQw8, DR7,DQw9, and DRw8, DQw4 haplotypes, as well as negatively associated with the Taq I DQB1 allelic pattern corresponding to the serological specificity DQw7. Relapsing/remitting MS was positively associated with the DQB1 allelic pattern observed in the DRw17,DQw2 haplotype. These three DQB1 alleles are in strong negative linkage disequilibria with DRw15. The two susceptibility markers of each clinical form of MS act additively in determining the genetic susceptibility, as the relative risks for individuals carrying both markers roughly equal the sum of respective risks. Different alleles of the DQB1 locus defined by restriction fragment length polymorphisms contribute to susceptibility and resistance to primarily chronic progressive MS as well as to susceptibility to relapsing/remitting MS. The observed immunogenetic heterogeneity between the different clinical forms of MS favors the hypothesis that primarily chronic progressive MS and relapsing/remitting MS are two distinct disease entities.

Alleles↗
PubMed1998

Epidemiological identification of Chinese individuals putatively susceptible or insusceptible to Schistosoma japonicum: a prelude to immunogenetic study of human resistance to Asian schistosomiasis.

An epidemiological method, field-tested in Hunan, China, to identify residents potentially susceptible or insusceptible to endemic schistosomiasis japonica is described, as a prelude to selection of subjects for immunogenetic studies. After an initial cross-sectional survey on two islands (Qingshan and Niangashan--population 2990) in 1995-1996, an informative cohort (N = 249) was selected for treatment and 9-month follow-up to measure exposure and re-infection. Both the population prevalence (15.8%) and the geometric mean intensity of infection (26.2 eggs/g faces) indicated that the islands were moderately endemic for schistosomiasis. Exposure measurements revealed a strong, positive, linear association (r = 0.70) between daily activity diaries and direct water-contact observation. Individuals identified as stool-positive for schistosomiasis had significantly more water contact than those who were egg-negative (P = 0.03). Almost all (93%) of the cohort had ultrasonographic evidence of periportal fibrosis before treatment but in only 1.2% was this fibrosis scored > 1 in terms of the stages identified by the World Health Organization. At the follow-up it was possible to classify the 249 subjects into three, distinct, exposure-infection epidemiological groups. The first group (N = 20) was susceptible to re-infection and constituted 8% of the cohort. The second group (N = 61) was apparently insusceptible to re-infection despite the continuing high levels of exposure and included 24% of the cohort. The other 68% of the cohort (N = 168) remained uninfected but were at most only moderately exposed, or had a status indeterminate due to non-compliance. This epidemiological identification of susceptibles and insusceptibles for schistosomiasis japonica' links field and ongoing laboratory studies aimed at characterising the genetic and immunological factors associated with resistance to re-infection and/or disease.

Adolescent↗
PubMed2002

Association of single nucleotide polymorphisms of the interleukin-10 promoter gene and susceptibility to primary biliary cirrhosis: immunogenetic differences in Italian and Japanese patients.

Several lines of data suggest that genetic factors play an important role in the onset and/or progression of primary biliary cirrhosis (PBC). Since PBC is an autoimmune disease, it is reasoned to assume that genes encoding cytokines may confer susceptibility to disease. Amongst these factors, interleukin-10 (IL-10) has received significant attention. The promoter region of IL-10 gene has three single nucleotide polymorphisms (SNPs) at positions -1082, -819 and -592. To elucidate the association of the three SNPs of IL-10 promoter region with susceptibility of PBC in two different genetic populations, 159 unrelated patients with PBC (94 Italian and 65 Japanese) and 143 local controls (72 Italian and 71 Japanese) were enrolled. SNPs were determined using allele-specific PCR/RFLP. In Italian PBC patients, the frequency of homozygosity for G/G at position -1082 was significantly higher than that of local controls (p < 0.041, OR = 2.44, 95% C.I.; 1.02-5.86). The frequencies of haplotype GCC in PBC patients, possibly linked to higher IL-10 production, were also significant higher than local controls (p < 0.033). However, in Japanese population, there were no significant differences in the three SNPs and haplotypes between PBC patients and controls. Excessive production of IL-10 may play an important role in some populations in modulating the onset of PBC. Further, immunogenetic studies of PBC should take into account ethnic and geographic variations; this makes such studies in heterogeneous population, like the USA, more difficult.

Genetic Predisposition to Disease↗
PubMed1986

Immunogenetic polymorphism of lipoproteins in swine: genetic, immunological and physiochemical characterization of the two allotypes Lpr1 and Lpr2.

Results of immunogenetic, immunochemical and physicochemical investigations on two serum allotypes of swine are reported. The allotypes, designated Lpr1 and Lpr2, have been identified by specific alloprecipitins in agar gel. Genetic studies indicate that the allotypes are specified by two codominant autosomal allelic genes, Lpr1 and Lpr2. All pigs 3 months of age or older were classified as belonging to one of three phenotypes, Lpr1, Lpr2 or Lpr1,2, each corresponding to one of three genotypes Lpr1/1, Lpr2/2 or Lpr1/2, respectively. The Lpr1 gene was absent or was found at low frequency in the breeds tested. The allotypes were found to occur in two physicochemical forms; in association with chylomicrons and very low density lipoproteins (VLDL) and, primarily, as a Lpr multimer free of the major lipoproteins showing very high density (VHD), d greater than 1.21 g/ml, and MW +/- 190,000. Gel-electrophoretic mobility for VHD-Lpr is different for each of the three Lpr genotypes residing in gamma-fast and beta-slow regions, but is identical for VLD-Lpr in which Lpr was found complexed with apo-B, migrating as VLDL in the alpha-2 slow (pre-beta) region. Serum levels of Lpr varied during the lifetime and between individuals and, especially, between sera of homozygous pigs being higher in Lpr1/1 than Lpr2/2. A linear relationship for Lpr1 and an atypical, inverse relationship for Lpr2 have been observed between the gene dosage, heterozygous vs. homozygous, and the Lpr serum level.

Animals↗