Article ; Online: Validation of tag SNPs for multiple sclerosis HLA risk alleles across the 1000 genomes panel.
2024 , Page(s) 110790
Abstract: 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 ... ...
Abstract | 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. HLA allele identification is facilitated by co-inherited ('tag') single nucleotide polymorphisms (SNPs); however, SNP validation is not typically done outside of the discovery population. We examined 19 SNPs reported to be in high LD with these alleles in 2,502 healthy subjects included in the 1000 Genomes panel having typed HLA data. Examination of 3 indices (LD R |
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Language | English |
Publishing date | 2024-04-03 |
Publishing country | United States |
Document type | Journal Article |
ZDB-ID | 801524-7 |
ISSN | 1879-1166 ; 0198-8859 |
ISSN (online) | 1879-1166 |
ISSN | 0198-8859 |
DOI | 10.1016/j.humimm.2024.110790 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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