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SNP information rs3135388

RS3135388

Normal allele: GG

Variation in the ATP-binding cassette transporter gene is significantly associated with susceptibility to multiple sclerosis (3-6 fold increase in risk).

Polymorphism rs3135388 is related to topics like this:

Is multiple sclerosis hereditary disease

The presence of lesions on the brain and spinal cord is indicative of multiple sclerosis, a...


Research and publications:

  18647361   A Taqman assay for high-throughput genotyping of the multiple sclerosis-associated HLA-DRB1*1501 allele.

  18941528   Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms.

  19010793   Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.

  19387463   Variation in the ATP-binding cassette transporter 2 gene is a separate risk factor for systemic lupus erythematosus within the MHC.

  19433080   The tag SNP for HLA-DRB1*1501, rs3135388, is significantly associated with multiple sclerosis susceptibility: cost-effective high-throughput detection by real-time PCR.

  19525953   Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.

  20007504   Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci.

  20008659   HLA-DRB1*1501 and spinal cord magnetic resonance imaging lesions in multiple sclerosis.

  20112030   Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility.

  20211854   CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis.

  20335276   PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.

  20362271   Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record.

  20362272   Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come.

  20369022   Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

  20405052   The effect of single nucleotide polymorphisms from genome wide association studies in multiple sclerosis on gene expression.

  20453840   Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis.

  20466734   Refining the association of MHC with multiple sclerosis in African Americans.

  20522537   Variation within DNA repair pathway genes and risk of multiple sclerosis.

  20591987   HLA-DRB1*1501 tagging rs3135388 polymorphism is not associated with neuromyelitis optica.

  20593013   A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.

  20699326   Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals.

  21049023   A polymorphism in the HLA-DPB1 gene is associated with susceptibility to multiple sclerosis.

  21067287   Multiple sclerosis risk markers in HLA-DRA, HLA-C, and IFNG genes are associated with sex-specific childhood leukemia risk.

  21121054   Visual integration of results from a large DNA biobank (BioVU) using synthesis-view.

  21244703   Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data.

  21247752   Revealing the genetic basis of multiple sclerosis: are we there yet?

  21280076   Aggregation of multiple sclerosis genetic risk variants in multiple and single case families.

  21304891   A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.

  21431378   Genetic predictors of 25-hydroxyvitamin D levels and risk of multiple sclerosis.

  21570397   Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.

  21653641   Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex.

  21654846   SNP-based analysis of the HLA locus in Japanese multiple sclerosis patients.

  22164203   Perspectives on the use of multiple sclerosis risk genes for prediction.

  22253788   Multiple sclerosis risk variant HLA-DRB1*1501 associates with high expression of DRB1 gene in different human populations.

  22363536   DRB1*03:01 haplotypes: differential contribution to multiple sclerosis risk and specific association with the presence of intrathecal IgM bands.

  22411505   Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.

  22492128   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.

  22938532   Sequencing and analysis of a South Asian-Indian personal genome.

  23186557   Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis.

  23226157   Gender differences in cancer susceptibility: an inadequately addressed issue.

  23326239   A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

  23379431   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.

  23818875   DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

  23834030   Polymorphisms in HLA-related genes and psoriasis heredity in patients with psoriasis.

  24270849   Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

  24733291   R PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment.

  25137520   Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions.

  26011527   Combinations of susceptibility genes are associated with higher risk for multiple sclerosis and imply disease course specificity.

  26091722   Are human endogenous retroviruses triggers of autoimmune diseases? Unveiling associations of three diseases and viral loci.

  26865406   Multiple sclerosis in families: risk factors beyond known genetic polymorphisms.

  27130045   Two endogenous retroviral loci appear to contribute to Multiple Sclerosis.

  27540591   Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies.

  27552900   Combining HLA-DRB1-DQB1 and Mycobacterium Avium Subspecies Paratubercolosis (MAP) antibodies in Sardinian multiple sclerosis patients: associated or independent risk factors?

  27572828   ZFAT gene variant association with multiple sclerosis in the Arabian Gulf population: A genetic basis for gender-associated susceptibility.

  27812365   Shared Genetic Etiology of Autoimmune Diseases in Patients from a Biorepository Linked to De-identified Electronic Health Records.

  27861356   A childhood acute lymphoblastic leukemia genome-wide association study identifies novel sex-specific risk variants.

  28130760   Analysis of ICAM1 gene polymorphism in Slovak multiple sclerosis patients.

  29027112   Field Synopsis and Re-analysis of Systematic Meta-analyses of Genetic Association Studies in Multiple Sclerosis: a Bayesian Approach.

  29379819   Elevated EBNA-1 IgG in MS is associated with genetic MS risk variants.

  29532745   Association of smoking but not HLA-DRB1*15:01, APOE or body mass index with brain atrophy in early multiple sclerosis.

  29996002   Study of the possible link of 25-hydroxyvitamin D with Epstein-Barr virus and human herpesvirus 6 in patients with multiple sclerosis.

  30585624   Bronchoalveolar lavage fluid characteristics correlate with HLA-tagged SNPs in patients with Löfgren's syndrome and other sarcoidosis.

  32760600   Association of rs12487066, rs12044852, rs10735781, rs3135388, rs6897932, rs1321172, rs10492972, and rs9657904 Polymorphisms with Multiple Sclerosis in Iranian Population.

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