Chapter 38 : Immunogenetics of Host Response to Parasites in Humans

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One of the problems in reviewing the field of immunogenetics and host response to parasites just now is that most genetic studies undertaken to date have been underpowered. This chapter discusses complexity and heritability of parasitic disease susceptibility, and how study design is evolving to provide diseases like parasitic infections. With the advent of technologies that allow upwards of 500,000 single nucleotide polymorphisms (SNPs) to be assayed simultaneously, the so-called “SNP-chip” technology, genome-wide association study (GWAS) have become possible. Recent interest has focused on the role of innate immunity in driving the adaptive immune response, particularly in relation to intramacrophage pathogens. The outcome of infection with pathogenic parasites is complex, that multiple genes can be expected to influence susceptibility to disease. Many future studies for parasitic diseases can be expected to provide a wealth of new data that can seed many novel functional studies on mechanisms of disease that can be translated into better interventions for the future.

Citation: Blackwell J. 2011. Immunogenetics of Host Response to Parasites in Humans, p 483-490. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch38
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Percent power (Y-axis) of N = 500 (A) or N = 1000 (B, C) case-control pairs to detect allelic association for a risk allele with effect size (OR) 1.5 (A, C) or 2 (B), given different risk allele frequencies (X-axis) and P-values (10 to 10 as indicated on key for different lines on each graph). Greater robustness to type 1 error (i.e. lower thresholds for P-values, is required for GWAS) (cf. in text).

Citation: Blackwell J. 2011. Immunogenetics of Host Response to Parasites in Humans, p 483-490. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch38
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Examples of genes related to innate, acquired immunity, or nonimmune related genes that are associated with parasitic disease susceptibility or outcome

Citation: Blackwell J. 2011. Immunogenetics of Host Response to Parasites in Humans, p 483-490. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch38
Generic image for table

Summary of genome-wide linkage studies (GWLS) used to identify regions of the human genome that contain susceptibility loci for parasitic infections

Citation: Blackwell J. 2011. Immunogenetics of Host Response to Parasites in Humans, p 483-490. In Kaufmann S, Rouse B, Sacks D (ed), The Immune Response to Infection. ASM Press, Washington, DC. doi: 10.1128/9781555816872.ch38

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