Abstract
Human variations in immune response can result from genetic polymorphisms. Polymorphisms are the result of differences in gene sequences that can give rise to changes in gene regulation (generally in enhancers or promoters), gene function (in exon sequences), or simple intronic sequence changes with no apparent effect on function. Polymorphisms can be single-nucleotide polymorphisms (SNPs), microsatellite repeats and minisatellites, or variable number tandem insertions or deletions. The immune system is replete with polymorphisms, in part due to the necessity for response to multiple microorganisms in diverse environments. The presence of polymorphisms in some cases leads to a selective survival in the face of devastating pathogen infection. This chapter analyzes a few systems that embody these polymorphisms. Polymorphisms in pattern recognition receptors (PRR), complement, cytokines, chemokines, the major histocompatibility complex (MHC), killer cell immunoglobulin-like receptors (KIRs), T cell receptors (TCRs), and immunoglobulins (IgG) are evaluated with regard to their effects on disease and pregnancy.
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Ruddle, N.H., Kavathas, P.B. (2019). Immunoepidemiology of Selected Components of the Innate and Adaptive Immune Systems. In: Krause, P., Kavathas, P., Ruddle, N. (eds) Immunoepidemiology. Springer, Cham. https://doi.org/10.1007/978-3-030-25553-4_7
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DOI: https://doi.org/10.1007/978-3-030-25553-4_7
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