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Basic information of HLA-C :

Official Symbol of Gene HLA-C
Species Homo sapiens
Entrez Gene ID 4933
Official Full Name major histocompatibility complex, class I, C
Also known as MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3
Gene Type protein coding
dbXrefs Ensembl:ENSG00000204525 MIM:142840; AllianceGenome:HGNC:4933
Map Location 6p21.33
Variation Type SNP
refSNP ID rs2647040

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method TaqMan、PCR
Disease MS
Disease subtype N/A
Population African Americans population
Sample Size 499 MS cases and 750 controls

Literature information of multiple sclerosis :

Pubmed ID 20466734
Year 2010
Title Refining the association of MHC with multiple sclerosis in African Americans

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result Two MHC class II SNPs, rs2647040 and rs3135021, were significant in the replication cohort and partially tagged DRB1*15 alleles.
Mechanism/Pathway Although the association of these two SNPs may be derived from their partial tagging of HLA-DRB1*15 alleles, it is still of interest to discuss other loci close to the SNPs. it is still possible that other alleles of DQB1 are associated independently of DRB1 with MS susceptibility in African Americans