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Validation of tag SNPs for multiple sclerosis HLA risk alleles across the 1000 genomes panel.

Human immunology - 1 May 2024

Boullerne Anne I, Goudey Benjamin, Paganini Julien, Erlichster Michael, Gaitonde Sujata, Feinstein Douglas L

Abstract excerpt

Currently, the genetic variants strongly associated with risk for Multiple Sclerosis (MS) are located in the Major Histocompatibility Complex. This includes DRB1*15:01 and DRB1*15:03 alleles at the HLA-DRB1 locus, the latter restricted to African populations; the DQB1*06:02 allele at the HLA-DQB1 locus which is in high linkage disequilibrium (LD) with DRB1*15:01; and protective allele A*02:01 at the HLA-A locus....

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PMID: 38575482
DOI: 10.1016/j.humimm.2024.110790

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