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At least 505 records · Page 28Linked to original sources
PubMedDate not supplied

Immunogenetics of mixed connective tissue disease in a Mexican Mestizo population.

OBJECTIVE: The aim of this study was to determine the HLA antigens in Mexican Mestizo patients with mixed connective tissue disease (MCTD). METHODS: We studied 30 patients with MCTD and 99 healthy controls. HLA-A, -B, and -DQ antigens were typed by microlymphocytotoxicity assays. DRB1, DQA1 and DQB1 alleles were oligotyped. RESULTS: HLA-A2 and HLA-B35 were the most frequent MHC class I alleles in MCTD patients, although they were not statistically more frequent than in the controls. According to serological tests, the most frequent DQ allele in the patients was DQ1, which was statistically increased when compared with controls (p = 0.0051). By oligotyping, the DR1 allele and the DQB1*0501 specificities were significantly increased in the patients vs. controls (p = 0.032 and 0.027, respectively). CONCLUSION: The elevated levels of DQ1 found in Mexican MCTD patients, although weak, may indicate a particular genetic susceptibility, since there are previous reports of associations of other alleles (such as DR4) with MCTD in other populations. The increase in DQB1*0501 may account for the increase in DQ1. DQB1*0501 has also been reported in black patients with anti-RNP autoantibodies, compared with black patients without anti-RNP or anti-Sm.

Adult↗
PubMedDate not supplied

[Immunogenetics and cerebral malaria].

Since the identification, in 1954, of the first gene associated with resistance to Plasmodium falciparum, several genes, some of them being implicated in the regulation of the immune response, have been described as possible influences on cerebral pathology. This pathology depends primarily on the capacity of infected red blood cells to adhere to the endothelia of micro-vessels, leading to their occlusion. The major players of cerebral malaria potentially include: receptors expressed on the surface of the endothelial cell and known to interact with infected red blood cells, cytokines modulating the expression of these adhesion molecules, nitric oxide (NO) and Fc epsilon RII/CD23. Cells other than infected red blood cells, such as platelets, monocytes and lymphocytes, have the ability to adhere to these endothelial receptors and to one another, via different ligands, leading to a more complex situation and an increase in the degree of vessel occlusion. The polymorphism of all these molecules, implicated either in adhesion, in modulation of this adhesion or activation of the expression of diverse endothelial mediators should be an important field of study. Polymorphism of five of these molecules has been explored so far: ICAM-1, TNF-alpha, IL-1 beta, iNOS2 (inducible NOS) and CR-1 (complement receptor-1). To these studies, can be added those concerning mannose binding protein (MBP), a protein playing a role in innate immunity, and the class-I antigen HLA-B53. To date the only clear-cut result concerns TNF-alpha. With the other polymorphisms, either no association is found (IL-1RA, CR-1, MBP), or results are geographically heterogeneous (ICAM-1, HLA-B53), or contradictory (iNOS2). Most often, the approach followed has been the candidate gene approach, as part of case control studies. One of the main problems in this approach is the difficulty of establishing the control cohort. This difficulty disappears in family studies, which include their own controls. So far, the only results based on complex segregation analysis have been focused on parasite multiplication and not on cerebral malaria.

Animals↗
PubMedDate not supplied

Immunogenetics and clinical aspects of Takayasu's arteritis patients in a Mexican Mestizo population.

OBJECTIVE: The aim of the present work was to study the association between HLA alleles and Takayasu's arteritis in Mexican Mestizo patients. METHODS: The study included 26 Mexican Mestizo patients with Takayasu's arteritis and 99 healthy unrelated individuals. HLA-A, -B and -DR alleles were determined by polymerase chain reaction PCR-SSP RESULTS: Increased gene frequencies were demonstrated for HLA-B15(p=0.009,pC=0.020,OR=3.24,EF=11.9%) and HLA-B52 (p=0.008, pC=0.027, OR=5.16, EF=7.7%), and a decreased frequency for the HLA-A24 allele in patients compared to normal controls (p=0.035, pC=NS, PF=11.1%). When HLA typing was correlated to clinicalfeatures in 24 cases, wefound an increasedfrequencies of HLA-DR14 in patients with systemic arterial hypertension (p=0.005, pC=0.004, OR=24.6, EF=38.3%) and HLA-A2 on patients with pulmonary involvement (p=0.034, pC=0.036, OR=3.67, EF=40.4%) when compared to patients without these clinical manifestations. CONCLUSION: These data confirm HLA-B52 as a relevant susceptibility allele for Takayasu's arteritis and suggest that HLA-B15 could be important as a marker of the disease in Mexican patients. Other class I and/or class II alleles could also be relevant as markers for the clinical features present in these patients.

Adolescent↗
PubMed2001

[Structural organization of the gene pool of the Ukrainian steppe white pig breed from immunogenetic markers].

The study of structural organization of gene pool was conducted for eight blood-group genetic systems (transferrin, haptoglobin, and amilase) in three stock herds of pigs of the Ukrainskaya Stepnaya Belaya breed that were bred under the conditions of southern Ukraine. Typical gene combinations (complex genotypes) of this breed were detected, and the main breed-specific parameters of distribution of genetic markers were described.

Amylases↗
PubMed2000

NCBI genetic resources supporting immunogenetic research.

The NCBI creates and maintains a set of integrated bibliographic, sequence, map, structure and other database resources to promote the efficient retrieval of information and the discovery of novel relationships. The connections made between elements of these resources permit researchers to start a search from a wide spectrum of entry points. These multiple dimensions of data can be roughly categorized by primary content as text or bibliographic (PubMed, PubMedCentral, OMIM, LocusLink), sequence (GenBank, Reference Sequence Project (RefSeq), dbSNP, MMDB), protein structure (MMDB) or map position (MapView). They can also becategorized by level of expert curation, which may range from validation of submissions from external groups (GenBank, PubMed, PubMedCentral,), to automatic computation (HomoloGene, UniGene), and to highly reviewed and corrected (LocusLink, MMDB, OMIM, RefSeq). Searches can be made by words (in an article title, key words, sequence annotation, database value, author) by sequence (BLAST or e-PCR against multiple sequence databases), or by map coordinates. By computing or curating bi-directional links between related objects, NCBI can represent content on the genetics, molecular biology, and clinical considerations of interest to immunogeneticists. There is also an emerging resource developed by the NCBI in collaboration with the IHWG devoted to the presentation of MHC data (dbMHC). How dbMHC will augment existing resources at the NCBI is described.

Computational Biology↗