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Insights into regulatory genetic variation involving the human MHC

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Host: John Trowsdale (jt233@cam.ac.uk)

The human Major Histocompatibility Complex (MHC) on chromosome 6p21 is a remarkable region of the genome, showing extraordinary genetic diversity and genetic associations with disease.

In my talk I will describe how functional genomic approaches may be used to resolve regulatory variants and provide new insights into the relationship between genetic variation and disease susceptibility. I will discuss allele-specific analysis of specific loci and global approaches using a custom MHC array to interrogate extended MHC haplotypes implicated in autoimmune disease.

I will also present data based on expression quantitative trait mapping in primary peripheral blood leukocytes which has defined trans associations involving the MHC , together with resolution of context specific expression associated variants for specific MHC genes.

This talk is part of the Immunology in Pathology series.

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