Immunogenetics and genomics | Semantic Scholar (2024)

This review consolidates the HLA data on some prominent autoimmune and infectious diseases among various ethnic groups and attempts to pinpoint differences in Indian and other population.

The studies exploring the role of human leukocyte antigens (HLA) genotypes on individual responses to SARS-CoV-2 infection and/or progression were reviewed, discussing also the contribution of the immunological patterns MHC-related.

HLA association data on some autoimmune diseases, infectious diseases, cancers, drug responsiveness and other diseases with unknown etiology in Koreans are collected and some remarkable HLA alleles related with specific diseases are summarized.

This study aims to evaluate the variation in the frequency distribution of FCGR3B CNV in Indian population, which will help explore the potential role of C NV in FC GR3B gene and its association to autoimmune disorders in Indian community.

The importance of immunogenetics in human cancers, its ups and downs through the history, its tools, their major limitations and definition of immune polymorphisms are reviewed.

All algorithms showed a poor performance for haplotype reconstruction with distant loci, estimating incorrect haplotypes for 38%-57% of the samples considering all algorithms and datasets, and it is suggested that computational haplotype inferences involving low-resolution HLA-A, Hla-B, H LA-DRB1 and HLA -DQB1 haplotypes should be considered with caution.

The findings support the general hypothesis that host immunogenetic determinants other than class II MHC may be important in the development of cervical cancer, but further analysis of the HLA gene cluster comprising the implicated TNFalpha single-nucleotide polymorphisms will be required to determine whether their association is linkage independent.

An extensive genetic analysis of IL2, IL4, IL6, IL10, IL12p35 and p40, IL13 and IFNγ genes found no relation with variants of other genes and will facilitate further genetic investigations of Th1–Th2 cytokines in AIDS and other immune-related disorders.

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The principal problems with retrospective collaboration on linkage appear to have been solved, providing far more information than a single study, and a multipoint lod table evaluated at commonly agreed reference loci is required for both collaboration and metaanalysis.

It is likely that susceptibility to most microorganisms is determined by a large number of polymorphic genes, and identification of these should provide insights into protective and pathogenic mechanisms in infectious diseases.

These issues are discussed, together with suggestions for optimal post-genome strategies, which are being presented for unravelling the complex genetic basis of non-mendelian disorders based on large-scale genome-wide studies.

Genetic variation in NRAMP1 affects susceptibility to tuberculosis in West Africans, and subjects who were heterozygous for twoNRAMP1 polymorphisms in intron 4 and the 3' untranslated region of the gene were particularly overrepresented among those with tuberculosis.

The NRAMP1 allele conferring susceptibility to JRA drives high levels ofNRAMP1 expression, while the allele associated with protection drives low levels, consistent with their maintenance in populations through balancing selection.

Data show that the -590 C-->T II-4 promoter polymorphism is only weakly associated with certain measures of asthma and atopy in some subjects, and was specifically not associated with serum IgE concentration or asthma in either of the two groups in this study.

In conclusion, an alanine at codon 17 of CTLA4 is associated with genetic susceptibility to Graves' disease as well as to IDDM.

To localize this gene, referred to as SM1, a genome-wide study on 142 Brazilian subjects belonging to 11 informative families showed a linkage to only one region, on chromosome 5q31–q33, with maximum two-point lod scores, indicating a close proximity to CSF1R as the most likely location of SM1.

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