rs12044852 has been reported in a large study to be associated with multiple sclerosis.
The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with this allele is 1.24 (CI 1.12-1.37). [PMID 17660530]
[PMID 18650830] Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
[PMID 21362770] Association study of ITGAM, ITGAX, and CD58 autoimmune risk loci in systemic sclerosis: results from 2 large European Caucasian cohorts
[PMID 19237575] The role of the CD58 locus in multiple sclerosis.
[PMID 20007504] Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
[PMID 20368992] Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients.
[PMID 22411505] Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[PMID 24655566] CD58 polymorphisms associated with the risk of neuromyelitis optica in a Korean population
[PMID 25685741] Association of CD58 Polymorphism with Multiple Sclerosis and Response to Interferon ß Therapy in A Subset of Iranian Population