{{Rsnum
|rsid=3135388
|Gene=HLA-DRA
|Chromosome=6
|position=32445274
|Orientation=minus
|GMAF=0.06428
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=HLA-DRA
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 66.4 | 29.2 | 4.4
| HCB | 96.4 | 3.6 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 93.9 | 6.1 | 0.0
| ASW | 93.0 | 7.0 | 0.0
| CHB | 96.4 | 3.6 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 96.0 | 4.0 | 0.0
| LWK | 92.7 | 7.3 | 0.0
| MEX | 87.9 | 12.1 | 0.0
| MKK | 95.5 | 4.5 | 0.0
| TSI | 84.3 | 14.7 | 1.0
| HapMapRevision=28
}}

[[rs3135388]] is highly (> 99%) 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]]. {{PMID|17660530}} The risk per allele (or per haplotype) appears additive. {{PMID|11424637}} It has also been associated with other [[autoimmune disease]]s, such as [[systemic lupus erythematosis]] ([[SLE]]) ([http://www.nature.com/ng/journal/v38/n10/fig_tab/ng1885_T1.html 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.

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. {{doi|10.1371/journal.pgen.1000369}}

{{PMID|19433080}} Association between [[rs3135388]](T) allele and [[multiple sclerosis]] also seen in 269 Serbian patients, with an odds ratio of 2 for (T) allele carriers.

{{PMID Auto GWAS
|PMID=19525953
|Trait=Multiple sclerosis
|Title=Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci
|RiskAllele=A
|Pval=0
|OR=2.75
|ORtxt=[2.46-3.07]
|OA=1
}}

{{omim
|desc=MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS
|id=126200
|rsnum=3135388
}}

{{omim
|desc=MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR BETA-1; HLA-DRB1
|id=142857
|rsnum=3135388
}}

{{omim
|desc=MAJOR HISTOCOMPATIBILITY COMPLEX, CLASS II, DR ALPHA; HLA-DRA
|id=142860
|rsnum=3135388
}}

{{PMID Auto
|PMID=20591987
|Title=HLA DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica
}}
{{PMID Auto
|PMID=21067287
|Title=Multiple sclerosis risk markers in HLA-DRA, HLA-C, and IFNG genes are associated with sex-specific childhood leukemia risk
}}

{{PMID Auto
|PMID=21816760
|Title=Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis
}}

{{PMID Auto
|PMID=22363536
|Title=DRB1*03:01 Haplotypes: Differential Contribution to Multiple Sclerosis Risk and Specific Association with the Presence of Intrathecal IgM Bands
|OA=1
}}

{{PMID Auto
|PMID=18647361
|Title=A Taqman assay for high-throughput genotyping of the multiple sclerosis-associated HLA-DRB1*1501 allele.
}}

{{PMID Auto
|PMID=18941528
|Title=Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.
|OA=1
}}

{{PMID Auto
|PMID=19387463
|Title=Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.
|OA=1
}}

{{PMID Auto
|PMID=20007504
|Title=Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.
|OA=1
}}

{{PMID Auto
|PMID=20008659
|Title=HLA-DRB1*1501 and spinal cord magnetic resonance imaging lesions in multiple sclerosis.
}}

{{PMID Auto
|PMID=20335276
|Title=PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=20405052
|Title=The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.
|OA=1
}}

{{PMID Auto
|PMID=20593013
|Title=A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.
|OA=1
}}

{{PMID Auto
|PMID=21304891
|Title=A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.
|OA=1
}}

{{PMID Auto
|PMID=21570397
|Title=Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.
|OA=1
}}

{{PMID Auto
|PMID=22253788
|Title=Multiple sclerosis risk variant HLA-DRB1*1501 associates with high expression of DRB1 gene in different human populations.
|OA=1
}}

{{PMID Auto
|PMID=22411505
|Title=Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3135388
|overall_frequency_n=118
|overall_frequency_d=128
|overall_frequency=0.921875
|n_genomes=53
|n_genomes_annotated=0
|n_haplomes=99
|n_articles=3
|n_articles_annotated=3
|in_gwas=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23186557
|Title=Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis
}}

{{PMID Auto
|PMID=23834030
|Title=Polymorphisms in HLA-related genes and psoriasis heredity in patients with psoriasis
}}

{{PMID Auto
|PMID=23840333
|Title=Vitamin D3 Receptor ( VDR ) Gene rs2228570 (Fok1) and rs731236 (Taq1) Variants Are Not Associated with the Risk for Multiple Sclerosis: Results of a New Study and a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=22492128
|Title=Association of SNPs rs6498169 and rs10984447 with multiple sclerosis in Saudi patients: a model of the usefulness of familial aggregates in identifying genetic linkage in a multifactorial disease.
}}

{{PMID Auto
|PMID=23379431
|Title=Serum concentration of immunoglobulin G-type antibodies against the whole Epstein-Barr nuclear antigen 1 and its aa35-58 or aa398-404 fragments in the sera of patients with systemic lupus erythematosus and multiple sclerosis.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}