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rs3135391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 2 HLA-DRB1*1501 carrier; higher multiple sclerosis risk
(T;T) 3 3 to 6 fold higher risk for multiple sclerosis
ReferenceGRCh38 38.1/141
Chromosome6
Position32443210
GeneHLA-DRA, LOC100289398
is asnp
is mentioned by
dbSNPrs3135391
ebirs3135391
HLIrs3135391
Exacrs3135391
Varsomers3135391
Maprs3135391
PheGenIrs3135391
hapmaprs3135391
1000 genomesrs3135391
hgdprs3135391
ensemblrs3135391
gopubmedrs3135391
geneviewrs3135391
scholarrs3135391
googlers3135391
pharmgkbrs3135391
gwascentralrs3135391
openSNPrs3135391
23andMers3135391
23andMe allrs3135391
SNP Nexus

SNPshotrs3135391
SNPdbers3135391
MSV3drs3135391
GWAS Ctlgrs3135391
GMAF0.06612
Max Magnitude3
? (C;C) (C;T) (T;T) 28
rs3135391 is highly correlated with the HLA-DRB1*1501 allele. The risk allele (T), is associated with a 3 to 6 fold higher risk for developing multiple sclerosis, and is the most significantly associated risk factor for MS. [PMC2892470]

In one study, for example, the odds ratio was reported to be 3.04 (p < 1 x 10e-78).[PMID 20593013]

The HLA-DRB1*1501 allele has also been associated with other autoimmune diseases, such as systemic lupus erythematosis (SLE) (see) and possibly narcolepsy. The HLA-DRB1*1501 allele is fairly common; for example, it occurs in 15-30% of individuals of Northern European ancestry. [PMC2892470]

An interesting series of correlations have been woven together to suggest that a possible way to lower the risk of rs3135388(T) carriers developing multiple sclerosis would be to ensure sufficient vitamin D production, presumably through sunlight exposure, during as yet unknown critical periods in development. 10.1371/journal.pgen.1000369[PMID 19143815OA-icon.png] MHC fine mapping of human type 1 diabetes using the T1DGC data.


[PMID 19846760OA-icon.png] Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases.

[PMC2892470] A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.