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Basic information of HLA-DRB1 :

Official Symbol of Gene HLA-DRB1
Species Homo sapiens
Entrez Gene ID 3123
Official Full Name major histocompatibility complex, class II, DR beta 1
Also known as SS1; DRB1; HLA-DRB; HLA-DR1B
Gene Type protein coding
dbXrefs Ensembl:ENSG00000196126 MIM:142857; AllianceGenome:HGNC:4948
Map Location 6p21.32
Variation Type SNP
refSNP ID rs703842

Sample information of multiple sclerosis:

Detected Sample peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype NA
Population Slovaks
Sample Size 496MS/521Health

Literature information of multiple sclerosis :

Pubmed ID 30875612
Year 2019
Title The association of rs703842 variants in CYP27B1 with multiple sclerosis susceptibility is influenced by the HLA-DRB1*15:01 allele in Slovaks

Results of multiple sclerosis :

Risk Type Disease risk
Main Result Positive
Result For the first time in Central European Slovak population, we found the rs703842 allele C to be protective factor against MS development
Mechanism/Pathway In addition, the study of Simon et al. (2011) showed that the association of rs703842 with MS risk could be dependent on the pre-sence of Human Leucocyte Antigen (HLA) DRB1*15:01 allele, that is known to be one of the most important genetic MS susceptibility factors