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MHC genomics and disease: Looking back to go forward

Dawkins, R.L. and Lloyd, S.S.ORCID: 0000-0002-0118-3094 (2019) MHC genomics and disease: Looking back to go forward. Cells, 8 (9). Article 944.

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Ancestral haplotypes are conserved but extremely polymorphic kilobase sequences, which have been faithfully inherited over at least hundreds of generations in spite of migration and admixture. They carry susceptibility and resistance to diverse diseases, including deficiencies of CYP21 hydroxylase (47.1) and complement components (18.1), as well as numerous autoimmune diseases (8.1). The haplotypes are detected by segregation within ethnic groups rather than by SNPs and GWAS. Susceptibility to some other diseases is carried by specific alleles shared by multiple ancestral haplotypes, e.g., ankylosing spondylitis and narcolepsy. The difference between these two types of association may explain the disappointment with many GWAS. Here we propose a pathway for combining the two different approaches. SNP typing is most useful after the conserved ancestral haplotypes have been defined by other methods.

Item Type: Journal Article
Murdoch Affiliation(s): Centre for Innovation in Agriculture
Publisher: MDPI
Copyright: © 2019 MDPI
United Nations SDGs: Goal 3: Good Health and Well-Being
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