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PubMed1992

An HLA study on 149 Japanese patients with Crohn's disease.

To search for possible immunogenetic roles in the pathogenesis of Crohn's disease, we examined the HLA-A, -B, -C, -DR and -DQ locus antigens in 149 Japanese patients with Crohn's disease. All patients were living on Kyushu island. We also examined the HLA of 136 healthy controls who resided in Kyushu. The results were compared with both controls throughout Japan and Kyushu controls. In Japanese patients with Crohn's disease, HLA-DR4, especially -DR4.1, and -DQ4 were more frequent than in the controls throughout Japan and in Kyushu. In light of these observations, an immunogenetic factor may have some role in the development of Crohn's disease. The susceptibility to Crohn's disease may relate to HLA-DR4, especially -DR4.1, and -DQ4, in Japanese patients.

Crohn Disease↗
PubMed2001

Alveolar lymphocytosis in patients with chronic uveitis: relationship to sarcoidosis.

Bronchoalveolar lavage (BAL) is frequently performed in patients with suspected ocular sarcoidosis. This study describes the immunogenetical, immunological, radiological, and functional features of a subclinical alveolar lymphocytosis unrelated to sarcoidosis in patients with chronic uveitis. Two hundred and ten patients with chronic uveitis of unknown origin, who underwent fiber-optic bronchoscopy with BAL as part of a prospective protocol over a three-year period, were evaluable for retrospective analysis. Sixty-five patients had alveolar lymphocytosis: Sarcoidosis was diagnosed in 13 (6%) patients, whereas alveolar lymphocytosis was considered unrelated to sarcoidosis in 52 (25%). Alveolar lymphocytosis unrelated to sarcoidosis was not associated with radiologically detectable interstitial lung disease or pulmonary function impairment. CD4/CD8 lymphocyte ratio was 3.7 +/- 3.0. Total cell count, total lymphocyte, and CD4 lymphocyte percentage were significantly lower when compared with sarcoidosis-related alveolitis (129,000 +/- 80,000 vs. 218,000 +/- 117,000, p <0.05; 33.1% +/- 13.2 vs. 39.7% +/- 13.2, p <0.05; and 54.3% +/- 18.2 vs. 65.4% +/- 10.1, p <0.05, respectively). Patients with alveolar lymphocytosis unrelated to sarcoidosis were older (47.8 +/- 17.7 years vs. 42.7 +/- 14.2 years, p <0.05) and more likely to carry the HLA-B51 allele (19.7% vs. 7.1%, p <0.01) than patients with chronic uveitis without alveolar lymphocytosis. They did not appear to be at risk of developing clinically apparent interstitial lung disease on followup. We conclude that alveolar lymphocytosis is frequently observed in patients with chronic uveitis. It is generally unrelated to sarcoidosis and may then be associated with a distinctive immunogenetic phenotype.

Bronchoalveolar Lavage Fluid↗
PubMed2002

Increased HLA- A*11 in Chinese children with steroid-responsive nephrotic syndrome.

Human leukocyte antigen (HLA) associations have been frequently reported in childhood steroid-responsive nephrotic syndrome (SRNS) in other populations. The aim of this study was to characterize the immunogenetic background of Singaporean Chinese patients with childhood SRNS. We determined the HLA class I (HLA- A* and HLA-B*) as well as class II (HLA- DRB1*, HLA- DQB1*) gene polymorphisms using the polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) technique, in patients with SRNS (n=64) and normal controls (n=236 for HLA- A*, n=80 for HLA- B*, HLA- DRB1* and HLA- DQB1*). The frequency of HLA- A*11 allele was significantly higher in the SRNS patients compared to controls (78.1% vs 54.2%, respectively; relative risk, RR=3.01, Pc=0.011). However, there was no significant difference in the allele frequencies of HLA- B*, HLA- DRB1* and HLA- DQB1* between the SRNS patients and controls, unlike that in previous studies. Our data suggest that the immunogenetic background of Singaporean Chinese with childhood SRNS was different from that in other populations. As HLA- A*11 has been strongly associated with other autoimmune diseases, it is conceivable that the HLA- A*11-specific motif may play a role in the development of the abnormal T-cell-mediated immune response that may be responsible for triggering the proteinuria seen in SRNS.

Adrenal Cortex Hormones↗
PubMed1988

Mixed lymphocyte reactions (MLR) in rainbow trout (Salmo gairdneri) sibling.

Suitable conditions for 2 way MLR were determined in random combinations of commercially cultured trout and were then applied to full siblings in two families reared for experimental purposes. The primary aim of the investigation was to determine whether the immunogenetic predictions from mammalian and avian experiments would apply, i.e. (i) that all full sibs, short of rare intra-MHC recombinants, can be assigned to a maximum of four different MHC genotypes, and (ii) that individuals of the same genotype are mutually histocompatible as tested in MLR. If both predictions apply, five or more siblings tested in all pairwise combinations should invariably display compatible pairs, so that a maximum of four groups of mutually incompatible individuals should emerge. The findings did not fit this model, and two alternative immunogenetic models are discussed.

Animals↗
PubMed1994

ICA and organ-specific autoantibodies among Japanese patients with early-onset insulin-dependent diabetes mellitus--the JDS study.

The Japan Diabetes Society (JDS) conducted a multicenter study on the immunogenetics of insulin-dependent diabetes mellitus (IDDM) among Japanese. The previous report of the JDS study described HLA types and other immunogenetic markers in Japanese patients with IDDM. In the present report, the autoimmunity of Japanese patients was studied by measuring ICA and other organ-specific autoantibodies in patients with different durations of IDDM. The prevalences of ICA were the highest in the first year after diagnosis (73.1%) and decreased to 58.0%, 18.3% and 2.8% in 1-5 years, 5-10 years and 10 years or more after diagnosis, respectively (P < 0.01), while the prevalences of the other organ specific autoantibodies increased gradually with duration of IDDM from 20% in the first year to 35% in 10 years or more after diagnosis (P < 0.05). There were no sex differences in the prevalences of ICA but those of other organ-specific autoantibodies were significantly higher in female patients than in male patients (P < 0.01). The prevalence of ICA was not correlated with sex, age at onset or HLA types. In one of the subjects, a girl, the titers of ICA increased in parallel with a decrease in insulin secretion before the development of overt IDDM and declined thereafter. These findings suggest that IDDM might develop when the autoimmunity specific to pancreatic islets is triggered in people with underlying autoimmunity as shown by the presence of organ-specific autoantibodies other than ICA.

Adolescent↗
PubMed1991

HLA class II antigens are associated with Japanese pemphigus patients.

We investigated the HLA class II antigens in 30 Japanese cases of pemphigus, 17 cases of pemphigus vulgaris (PV) and 13 cases of pemphigus foliaceus (PF), by both serologic and restriction fragment length polymorphism (RFLP) analyses. We detected two major haplotypes susceptible to PV, i.e., DRw12-DQw7 and DRw6-DQw5. In contrast, DR2 was absent in PV. RFLP analyses showed that DRw6 PV patients had a disease-associated restriction fragment representing DQw5, the same association as that found in DRw6 Jewish PV patients. However, DRw12 Japanese PV patients had DQw7, whereas DR4 Jewish PV patients had DQw8. On the other hand, all 13 PF patients were serologically typed for DQw1, which could not be further subdivided into DQw5 by RFLP analyses. These results suggest that Japanese and Jewish PV patients may be immunogenetically closely related to each other, but Japanese PV patients appear to be immunogenetically different from Japanese PF patients.

Autoantibodies↗
PubMed1995

HLA and tumor necrosis factor beta gene polymorphisms in Okinawa lung cancer patients: comparative study with mainland Japan lung cancer patients.

The frequencies of HLA class I and II antigens and TNF-beta polymorphism in lung cancer patients were investigated in two areas with different immunogenetic backgrounds, in Okinawa and in mainland Japan (Honshu). In Okinawa frequencies of HLA-Cw3 in squamous cell lung carcinoma patients were higher and those of HLA-DR, both in all lung cancer and in adeno lung carcinoma patients, were lower compared to those of normal controls. Among serologic HLA-DR4-positive individuals, no difference of DRB1*04 gene allele frequency was shown between patients and controls. In Honshu no statistically significant difference of HLA-class I and II alleles frequencies was found; however, the frequency of TNF-beta 10.5-kb homozygote in lung cancer patients was lower than that of controls. For 2-year survival, there was no difference between DR4-positive and -negative individuals and also between each TNF-beta type in Okinawa. In contrast, Honshu patients with 10.5-kb homozygote showed an improved 5-year survival ratio compared to those with heterozygote. We postulate that different immunogenetic backgrounds or environments might have caused the varying HLA or TNF-beta association in the predisposition to or prognosis of lung cancer.

Adenocarcinoma↗
PubMed1994

The molecular genetics of autoimmune liver disease.

The dual observations that human leukocyte antigens have an antigen-binding groove and that the polymorphism we study as human leukocyte antigen types is largely related to amino acid substitutions in and around that groove have provided a new focus for immunogenetic studies. In autoimmune liver disease, recent studies have described specific amino acid substitutions in the antigen-binding groove of human leukocyte antigen DR molecules that may determine both disease susceptibility, through their direct influence on antigen binding, and the severity of the disease. In autoimmune hepatitis, lysine residues at DR beta position 71 in European subjects and arginine or histidine residues at DR beta position 13 in Japanese subjects may be responsible for much human leukocyte antigen-encoded disease susceptibility. Similar claims have been made for leucine residues at DR beta 38 in primary sclerosing cholangitis and for leucine residues at DP beta 35 in Japanese patients with primary biliary cirrhosis. To date, our knowledge of genetic susceptibility to autoimmune liver disease is incomplete. Other genes may contribute to susceptibility to autoimmune liver disease--for example the contribution of TAP genes, upstream promoter sequences and class III genes on chromosome 6 and the T-cell receptor genes and complement genes elsewhere in the human genome is currently unclear. Additional information concerning the immunogenetic contribution to disease severity is needed to complete the picture.

Autoimmune Diseases↗
PubMed2004

Immunological markers contributing to successful aging in Bulgarians.

In order to clarify immunogenetic markers contributing to successful aging, HLA and cytokine gene profiles were analyzed in healthy elderly Bulgarians. Family segregation analysis was performed to define combined effect of haplotypes and immunophenotype profiles. The results of this study did not reveal any statistically significant allele and haplotype frequency differences between elderly and control group. In families with two generations longevity members we did not observed HLA alleles and haplotypes associated with autoimmunity. IL-10 genotype -1082G/A, -819 C/C, -592 C/C, related to the intermediate production, was positively associated, while genotype -1082A/A, -819 C/T, -592 C/A, related to the low level of production, was negatively associated with longevity in Bulgarians. This effect was modulated by IL-6 and IFNgamma genotypes associated with the low level of these pro-inflammatory cytokines. Immunophenotypic studies indicated lower relative and absolute numbers of CD3+8+, CD8+28+ and CD8+57+ cells in elderly people. Analysis in families showed that although most pronounced in the elderly group, lower numbers of CD8+ T cells were also found in middle aged and young members of the families compared to the age matched controls. A progressive CD8+28+ cell subsets decline was seen with aging. In addition, we did not observed the 'immune risk phenotype' which is a marker of an increased inflammatory activity. Based on the results of this study, it seems reasonable to suggest that a combination of specific immunogenetic and immunophenotype profiles could contribute to the successful aging and to maintaining healthy status in elderly.

Adolescent↗
PubMed2005

Killer immunoglobulin-like receptor genotype in immune-mediated bone marrow failure syndromes.

OBJECTIVE: Recent reports have shown that killer immunoglobulin-like receptors (KIR) and KIR ligand (KIR-L) genotype play a role in the pathophysiology of autoimmune disorders. Certain KIR/KIR-L combinations might convey a predisposition to immune-mediated bone marrow failure. Examining the genotypic makeup of human leukocyte antigen (HLA) class I (KIR-L) and KIR in patients with hematologic disorders could offer clues to immunogenetic risk factors for these diseases. The objective of this study is to establish the frequency of specific KIR genes and KIR-L alleles in aplastic anemia (AA), paroxysmal nocturnal hemoglobinuria (PNH), myelodysplasia (MDS), and large granular lymphocyte leukemia (LGL), as compared with healthy control patients. METHODS: KIR genotyping was performed on DNA from 113 patients with AA, PNH, MDS, and LGL using sequence specific primer amplification. Results of genotypic KIR analysis were examined with HLA typing. Comparisons in frequency of KIR-L groups, KIR genotype profiles, and KIR/KIR-L mismatch were performed to determine whether specific KIR genes and KIR-L are overrepresented in bone marrow failure states. RESULTS: No difference in frequency of KIR-L groups was found relative to the healthy controls. AA and PNH showed decreased frequency of KIR-2DS1 and KIR-2DS5 genes: KIR-2DS1 35% vs 21% (p = 0.15) for AA and 19% for PNH (p = 0.13); KIR-2DS5 31% vs 14% (p = 0.08) for AA and 12% (p = 0.06) for PNH. These differences were even greater when compared to a larger group of control individuals from a study with similar genetic background. CONCLUSIONS: The reduced frequency of these KIR in AA and PNH may indicate an immunogenetic relationship between these diseases.

Anemia, Aplastic↗
PubMed2004

Th2/Th3 cytokine genotypes are associated with pregnancy loss.

Cytokines are critical immunoregulatory molecules, responsible for determining the nature of an immune response. It has been proposed that Th2/Th3 immune reactions support normal pregnancy, while Th1 immunity is considered detrimental to the fetus. Since cytokine production is partly under genetic control, it is possible that women suffering from a high incidence of abortions are genetically predisposed to mount a type of immune response inappropriate for pregnancy maintenance. This study investigated the frequencies of cytokine gene polymorphisms in abortion-prone women and women with successful pregnancies. We investigated the role of Th1/Th2/Th3 cytokine gene polymorphisms, such as TGF-beta1 codon 10 (TGFbetac10; C to T), TGF-beta1 codon 25 (TGFbetac25; G to C), TNFalpha promoter-308 (G to A), IL-6 promoter-174 (G to C), IL-10 promoter-1082 (G to A), IL-10 promoter-819 (C to T), IL-10 promoter-592 (C to A), and IFNgamma intron 1 +874 (A to T) in abortion-prone female patients. Our results support the importance of Th2/Th3 immune responses in pregnancy loss, and suggest that an individual's immunogenetic profile indicative of imbalances in Th2/Th3 cytokines is associated with pregnancy loss. Our results suggest that abortive events are determined by genetic factors, reflected in the female patient's immunogenetic profile.

Abortion, Spontaneous↗
PubMed1982

Lung transplantation in the rat: I. Technique and survival.

For immunogenetic and economical reasons, an operative technique for lung transplantation in the rat was developed. With the use of an operation microscope and 8-0, 9-0, and 10-0 sutures, the left pulmonary artery, vein, and brochus were anastomosed. The mean operation time was 4 hours; the mean graft ischemia time, 87 minutes. After frequent failures initially, due to anesthetic problems and lack of experience with microsurgical operative technique, a final peroperative survival of about 80% was obtained. Postoperative mortality approximated 50%. The main cause of postoperative death was thrombus formation at the site of an anastomosis. In a final series of 28 isogeneic transplantations, proper data for a one-month follow-up was obtained from 36% of the animals that underwent operation, a percentage comparable with initial canine pulmonary and rat renal transplantation studies. Left lung transplantation in the rat proved to be technically feasible and may provide an immunogenetically well defined and economically advantageous animal model in lung transplantation research.

Animals↗
PubMed1998

Association between HLA class II alleles and protection from or susceptibility to chronic hepatitis C.

BACKGROUND/AIMS: Recent studies have suggested that the course of chronic hepatitis C may be influenced by the immunogenetic background of the host. Specifically, HLA-DR11 (5) has been associated with less advanced hepatitis C virus (HCV)-related liver disease. The aim of the present study was to investigate whether HLA-DRB1*11 subtypes or HLA-DQA1 and DQB1 genes might be associated with protection from or susceptibility to chronic HCV infection, histological severity of HCV-induced liver disease and infecting HCV genotype. METHODS: Ninety-nine unrelated outpatients with histologically documented chronic hepatitis C were studied and their allele frequencies were compared with those of 179 ethnically matched controls and with those of 41 HCV RNA-positive patients with persistently normal aminotransferase levels (HCV carriers). HLA-DQ types and HLA-DRB1*11 subtypes were determined by polymerase chain reaction gene amplification with sequence specific primers. RESULTS: None of 10 DQA1 or 12 DQB1 alleles was significantly associated with susceptibility to or protection from chronic HCV infection or with histological staging or with HCV genotype. However, analysis of DQA1-DQB1 combinations showed that DQA1*0201-DQB1*0201 combination was significantly more frequent in patients compared to controls, both in cis (26.3% vs 16.2%, p = 0.04, odds ratio = 1.8, 95% confidence interval, 0.96-3.5) and in trans (12.1% vs. 1.1%, p = 0.0001, OR = 12.2, 95% CI, 2.6-113.7). HCV carriers did not differ from controls or from patients in the frequency of DQA1-DQB1 combinations. The extended haplotype DRB1*1104, DQA1*0501, DQB1*0301 was seen significantly less frequently in patients than in controls (8% vs 22.3%, p = 0.0025, OR = 0.31, 95% CI, 0.12-0.7) or HCV-RNA carriers (8% vs 26.8%, p = 0.003, OR = 0.24, 95% CI, 0.08-0.73). CONCLUSIONS: Immunogenetic factors may play a role in determining both protection from and susceptibility to chronic hepatitis C, the trans-dimer DQA1*0201-DQB1*0201 predisposing to and the DRB1*1104, DQA1*0501, DQB1*0301 haplotype protecting from chronic hepatitis C.

Alleles↗
PubMed1984

Complications of mumps infection, islet-cell antibodies, and HLA.

To investigate whether the development of islet-cell antibodies (ICA) in the course of mumps infection is associated with a "diabetes-like" immunogenetic condition, 45 children with mumps complications as well as 56 children with insulin-dependent diabetes mellitus (IDDM) were typed for HLA ABC and DR antigens. ICA were detected in 14 out of 35 mumps patients. In the IDDM group, significant deviations from antigen frequencies of normal controls were observed for HLA Bw39, DR2, DR3, and DR4. In contrast, in ICA positive mumps patients, the frequency of these antigens was normal, but Aw24 was significantly increased. Thus, no immunogenetic similarities of both groups of patients could be detected.

Adolescent↗
PubMed1992

Rheumatoid arthritis in south-east Europe.

The clinical, serological and immunogenetic studies of RA in mediterranean countries and other small tribal groups have added some more information that is valuable in understanding the pathogenesis of RA. However, the immunogenetic studies seem to be more helpful in understanding the mechanisms of initiation of disease and its dissimilarities in different ethnic groups than in discovering its cause. It should also be stressed that, in addition to genetic factors, other factors may influence disease expression. This proposal was supported by a study from Africa which revealed an increasing incidence and severity of RA in rural compared with urbanized African populations (Brighton, 1987). Thus, the variability factor influencing disease expression may lie in the environment (Woodrow, 1988).

Adult↗
PubMed2003

Classification systems for acute and chronic leukaemias.

Modern classification systems for acute and chronic leukaemias are based on cytomorphology, cytochemistry, immunophenotyping, immunogenetics and molecular cytogenetics. Morphology forms the initial diagnosis of leukaemia, but generally is not sufficient to identify biologically and clinically relevant subsets within the main categories of leukaemia. Immunophenotyping precisely defines the lineage and stage of differentiation of malignantly transformed haematopoietic cells. This is usually sufficient for precise classification of mature lymphoid malignancies, although immunogenetic and (molecular) cytogenetic studies might be helpful to confirm the diagnosis of disseminated non-Hodgkin's lymphomas. However, certain categories of disease that are clearly defined by cytomorphology and immunophenotyping, particularly acute leukaemias, are still heterogeneous, mainly owing to different underlying leukaemogenic events. Immunophenotyping can reveal subgroups highly suggestive of certain chromosome aberrations but reliable identification of such aberrations requires cytogenetic or molecular studies. Such combined diagnostic information forms the basis of current WHO classification of tumours of haematopoietic and lymphoid tissues. This will be complemented in the near future with novel criteria revealed by microarray gene expression profiling. This chapter summarizes and comments on the currently used immunophenotypic classification systems of acute and chronic leukaemias and on the added value of molecular diagnostics.

Humans↗
PubMed1989

Nature and nurture: overcoming constraints on immunity.

Parasitic infections in man and domestic animals exhibit two striking characteristics (a) their prevalence is high, but infections are unequally distributed among individuals within populations and (b) immunity is often slow to develop and appears, at best, only partially effective. Recent immunological and epidemiological studies suggest that effective immunity can develop, but that high prevalence within populations reflects the operation, not only of socio-economic and climatic factors, or husbandry practices, but also of powerful environmentally induced constraints upon the development of resistance. Immunogenetic studies suggest the operation of additional constraints upon the development of resistance. Immunogenetic studies suggest the operation of additional constraints which reflect individual genetic characteristics, and which influence the ability to develop and express effective immunity. A full understanding of all constraints is necessary before levels of population and individual resistance to infection can be increased; the need for such understanding has become more pressing with the prospect that anti-parasite vaccines may become available. Two aspects of environmentally induced constraints are considered, those arising from nutritional inadequacies and those resulting from exposure to infection in early life. Both are discussed primarily in terms of helminth parasites. Genetically determined constraints are discussed with reference to MHC-restricted recognition of malarial peptide vaccines and in terms of Class II molecule-directed control of T-cell function in Leishmania infections. Genetic influences are also considered from the standpoint of inflammatory cell function, in immunity against intestinal nematodes and in vaccine-induced immunity against Schistosoma. Finally, parasite-induced constraints, particularly those which down-regulate protective responses are discussed briefly.

Age Factors↗
PubMed2003

New allele frequency database: http://www.allelefrequencies.net.

A new website (http://www.allelefrequencies.net) has been compiled to execute the frequency of alleles at various polymorphic regions of different populations in the field of histocompatibility and immunogenetics. Data for HLA alleles has been added but this will be extended to include frequency data of polymorphisms in other immunogenetic regions, e.g. cytokines, KIR receptors, MIC.

Alleles↗