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Bioinformatics Training and Education Program

august, 2020

17aug3:00 pm4:00 pmThe impact of immunogenetic variation on human health and disease


Event Details

Speaker: Dr. Mary Carrington

The exceptional influence of HLA and related genes located in the MHC on human disease relative to that of variation in the rest of the genome has now been clearly demonstrated by GWAS. While allelic effects of these genes that confer specificity for peptide presentation have been well-appreciated for decades, more recently it has become evident that other allele-specific features, such as expression levels of HLA molecules or their interaction with binding partners during assembly in the endoplasmic reticulum (ER), also impact HLA function differentially. The level of dependence on the assembly factor tapasin is highly variable across the common HLA class I allotypes. Tapasin dependence influences peptide repertoire both in terms of its size and affinity of presented peptides, where tapasin dependent HLA allotypes present a smaller repertoire of peptides, but likely with higher average affinity compared to tapasin independent allotypes. We have ascribed tapasin dependence coefficients to each common HLA allele and an overall dependence score given the entire HLA genotype present in each subject. I will discuss the impact of these allele-specific properties on HLA function and their effects on disease outcomes.

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(Monday) 3:00 pm - 4:00 pm




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