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At least 973 records · Page 54Linked to original sources
PubMed1985

Immunogenetic studies in families with rheumatoid arthritis and autoimmune thyroid disease.

HLA and Gm typing were carried out in 16 families. Seven families included 10 sib pairs with rheumatoid arthritis (RA) and autoimmune thyroid disease (ATD) respectively, and nine families included 16 sib pairs with RA and circulating thyroid autoantibodies respectively. Eight, 11, and seven sib pairs with either RA or clinical or immunological evidence of ATD shared none, one, and two HLA haplotypes respectively, and two, seven, and two informative sib pairs shared none, one, and two Gm haplotypes respectively. This random haplotype sharing of HLA and Gm haplotypes suggests that non-HLA, non-Gm linked genes are likely to be involved in any genetic predisposition common to RA and ATD.

Arthritis, Rheumatoid↗
PubMed1998

Immunogenetic evidence for the phylogenetic sister group relationship of dogs and bears (Mammalia, Carnivora: Canidae and Crsidae). a comparative determinant analysis of carnivoran albumin, c3 complement and immunoglobulin micro-chain.

Thirty-seven antigenic determinants were identified in the albumins, the immunoglobulin micro- and IgG(Fc) chains, and the C3 proteins of 51 carnivoran (sub)species from 31 genera, and in 12 noncarnivoran mammals. In addition to 19 determinants plesiomorphic for Carnivora as an order, 18 synapomorphic epitopes of carnivoran families revealed nine phylogenetic reaction groups: (1) canids, (2) ursids, (3) the racoon, (4) the Weddell seal, (5) the lesser panda, (6) the harbour seal, (7) mustelids, (8) viverrids and hyaenas, and (9) felids. These data identify Canoidea (Canidae, Ursidae, Phocidae, Procyonidae, Ailuridae, Mustelidae) and Feloidea (Viverridae, Hyaenidae, Felidae) as two fundamentally differentiated lineages of Carnivora, and confirm the inclusion of seals among the former. The Ursidae are the sister group of the Canidae. The antigenic determinants in the studied proteins do not subdivide the Canidae, Ursidae and Felidae into immunologically differentiated lineages.

Albumins↗
PubMed2002

Castes, migration, immunogenetics and infectious diseases in south India.

It has been said that the grandest genetic experiment of nature has been conducted in south India in the name of the caste system. One can expect the frequency of an infectious disease to be equal to the product of the frequencies of various indicated loci/alleles, whether physiological, hormonal or immunological, in an endemic area. The sympatrically isolated caste and sub-caste populations of southern India, with differing origins, migration patterns and breeding habits, differ significantly in their HLA and other immune repertoire and are ideal models to study and test this hypothesis. The prevalence of a number of major infectious diseases, including TB and leprosy, are reviewed in different communities in the light of their genetic history.

Journal Article↗
PubMed2005

Immunogenetics of type 1 diabetes.

The T-cell mediated autoimmune process that destroys pancreatic beta cells in type 1 diabetes (T1D) is a complex phenotype influenced by multiple genetic and environmental factors. Human leukocyte antigen (HLA) accounts for about half of the genetic susceptibility, through a large variety of protective and predisposing haplotypes. Other important loci associated with T1D, with much smaller effects than HLA, include the insulin variable number of tandem repeats, PTPN22, and CTLA-4. Detecting the association and confirming it beyond doubt is only the first step. Identifying the functional variant from among a block of polymorphisms in tight linkage disequilibrium and determining its biological consequences can be an even more challenging task. It is hoped that the identification of additional loci and functional analysis of known ones, no matter how small each individual effect is, will provide: (1) pathophysiological insights necessary for the development of preventive interventions; (2) risk prediction to identify individuals that can benefit from them, and (3) potentially, identification of distinct subgenotypes, with different immune dysregulation pathways leading to the common disease phenotype that may respond to different preventive interventions.

Antigens, CD↗
PubMed1980

Immunogenetics of sex determination of the polled goat.

Using the protein A rosette technique, it was found that the gene for polledness (P) in goats is associated with the presence of H-Y antigen on the cell surface of cultured fibroblasts. Two XX intersex goats (P/P) were found to be H-Y+, and one heterozygous (P/+) normal XX female was also found to express H-Y antigen at a low level. The expression of H-Y antigen by intersex goats was found to be lower than that of normal XY males. The statistical analysis suggests that animals of the same genotype and sex might differ in the density of H-Y antigen on their cell surface, which might explain the variability in primary sex determination among intersex goats. The association between the gene for sex reversal and H-Y antigen is discussed in relation to the location of the H-Y gene(s).

Animals↗
PubMed1986

Immunogenetics of disease susceptibility: new perspectives in HLA.

Structural analysis of HLA class II molecular variation occurring within haplotypes implicated in specific HLA-associated diseases now provides more specific and sensitive mechanisms for investigation of genetic susceptibility to disease. Using the HLA-DR4 association with two distinct diseases, IDDM and JRA, as a model, we can conclude the following: There are at least seven distinct haplotypes which share the HLA DR4 specificity; these haplotypes include six alleles at the DR-beta genetic locus. These allelic differences are subtle, encompassing a very few clustered amino acid changes, but are sufficient to generate different patterns of T cell alloreactivity; there are at least three different alleles of DQ-beta genes associated with DR4+ haplotypes, with major structural differences recognized by biochemical analysis and by specific antibodies; different DR4-associated diseases are associated with different specific allelic variants of DR and DQ genes. DR4+ IDDM is most closely associated with the DQ 3.2 allele at DQ-beta; DR4+ JRA, on the other hand, appears to be highly associated with rare alleles at DR-beta, but not DQ. Notably, there are many alleles, and therefore DR4+ haplotypes, which are not implicated in 'HLA-DR4-associated' diseases.

Arthritis, Juvenile↗
PubMed1979

Immunogenetics of the McB1 macroglobulin allotype in cattle.

The paper describes a cattle serum antigen (McB1) which is controlled by a dominant gene (McB1), independent from those controlling the two macroglobulin markers McA1 and McA2 as well as from that controlling the low-density lipoprotein marker Ld1A1. McB1 is located on a high-molecular-weight serum protein which, very likely, is an alpha2-macroglobulin.

Animals↗
PubMed1982

Immunogenetic studies in essential hypertension among black patients. I. Correlative studies of serum autoantibody formation.

Serum antinuclear antibody (ANA) and HLA phenotype frequency were studied in 100 black subjects with essential hypertension and 100 normotensive black controls matched for age and sex. 11% of hypertensive individuals had a positive serum ANA test compared with 2% of controls (p less than 0.01). Among the hypertensive patients, positive serum ANA test was seen exclusively in patients who were receiving treatment with methyldopa. Although ANA also correlated with hypertensive vascular damage as assessed by retinal and EKG abnormalities, this was believed to have been due to the higher dose of methyldopa that may have been required to treat hypertension in these more severe cases. A statistically significant correlation of HLA-A11 and HLA-B12 with hypertension was observed, but only studied when uncorrected for the number of HLA specificities. It was concluded that autoantibody formation in essential hypertension is most likely to have been a consequence of antihypertensive drug therapy. In addition, further studies using larger number of patients and controls might more clearly establish the question of whether or not HLA is associated with essential hypertension.

Adult↗
PubMed1994

Clinical, serological and immunogenetic features of Japanese anti-Ro/SS-A-positive patients with annular erythema.

Sixteen anti-Ro/SS-A-positive patients with recurrent annular erythema, which has recently been recognized as a unique cutaneous manifestation of Sjögren's syndrome, were studied. Eight of the 16 patients met the American Rheumatism Association criteria for systemic lupus erythematosus. Fifteen patients had anti-La/SS-B antibodies. Antibodies against U1RNP were detected in 2 patients with systemic lupus erythematosus, 1 with anti-Sm antibodies. Patterns of autoimmune response to Ro/SS-A antigens were variable by immunoblot analysis. HLA typing by the standard complement-dependent microcytotoxicity assay revealed that all the 16 patients were positive for HLA-DRw52 antigens but negative for either HLA-B8 or HLA-DR3 which is reportedly associated with the autoimmune response to Ro/SS-A antigens in white and black patients.

Antibodies, Antinuclear↗
PubMed1982

Immunogenetic analysis of association between HLA antigens and psoriasis vulgaris: population and family studies.

A significant increase of some HLA antigens (B13, B17) was shown in 122 psoriasis patients, compared to 176 unrelated individuals of the control group. This finding is not completely secondary to an increase in Cw6, supporting the opinion that different loci within the HLA region are responsible for different forms of the disease. Some familial cases of psoriasis suggest a possible involvement of Bw35, despite the fact that the increase of this antigen in a random population was not significant for the corrected value. In this case it seems likely that a gene associated with Bw35 may be responsible for an infectious form of disease. The fact that 32% of our psoriatic patients did not show either B13, B17 or Cw6, indicated that the Is gene could also segregate with an other haplotype. The Is gene is also dominant, with an incomplete penetrance of B17 and Bw35 among relatives.

Adolescent↗
PubMed1996

Clinical and immunogenetic investigation of a Laotian patient with Vogt-Koyanagi-Harada's disease.

Vogt-Koyanagi-Harada's (VKH) disease has been known to be associated with HLA class II antigen, HLA-DR4 and -DR53. Recent recombinant DNA technical advances have allowed us to investigate the genetic polymorphism of HLA antigens at the molecular level. By use of the polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) technique we have found that VKH disease is closely associated with HLA-DRB1*04 (DRB1*0405/ DRB1*0410) and DQB1*04 (DQB1*0401/DQB1*0402) in the Japanese. Here, we will describe a typical case of a Laotian patient with VKH disease and the results of HLA typing: the patient showed a conservation of one of the major haplotypes observed in Japanese VKH patients, DRB1*0405-DQB1*0402.

Adult↗