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SNP information rs13277113

RS13277113

Normal allele: GG

The rs13277113 genotype associated with the BLK pathway is more common in patients with systemic lupus erythematosus and is associated with low gene expression and increased frequency of exacerbations.

Polymorphism rs13277113 is related to topics like this:

Lupus is it genetic

It is now well understood that lupus is caused by both environmental and genetic factors. At...


Research and publications:

  18204098   Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

  19180478   Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population.

  19225526   Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese.

  19442287   Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.

  19714582   Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors.

  19740902   Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population.

  19796918   Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations.

  20018015   Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.

  20018022   Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.

  20131239   Association of the FAM167A-BLK region with systemic sclerosis.

  20156505   Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis.

  20309874   Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy.

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

  20392289   Genetic associations in type I interferon related pathways with autoimmunity.

  20807474   The genetics of systemic sclerosis.

  20833654   Mapping of numerous disease-associated expression polymorphisms in primary peripheral blood CD4+ lymphocytes.

  20842512   The association between single-nucleotide polymorphisms of NCF2 and systemic lupus erythematosus in Chinese mainland population.

  20848568   Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.

  20881011   Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.

  20933377   Recent findings on genetics of systemic autoimmune diseases.

  21060334   Genetic susceptibility to systemic lupus erythematosus in the genomic era.

  21152986   Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis.

  21211616   Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records.

  21480188   C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.

  21719445   Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.

  21765104   Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.

  21792837   Identification of novel genetic susceptibility loci in African American lupus patients in a candidate gene association study.

  21905002   Gene-gene interaction of BLK, TNFSF4, TRAF1, TNFAIP3, and REL in systemic lupus erythematosus.

  22102179   Genetics of systemic sclerosis: an update.

  22110124   Analysis of autosomal genes reveals gene-sex interactions and higher total genetic risk in men with systemic lupus erythematosus.

  22313735   Identify the association between polymorphisms of BLK and systemic lupus erythematosus through unlabelled probe-based high-resolution melting analysis.

  22536486   Lupus nephritis: an overview of recent findings.

  22541939   Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study.

  22640752   The genetics of lupus: a functional perspective.

  22654485   Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

  22696686   Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.

  23049788   Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study.

  23124848   Brief Report: Single-nucleotide polymorphisms in VKORC1 are risk factors for systemic lupus erythematosus in Asians.

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

  23646104   Epistatic interaction between BANK1 and BLK in rheumatoid arthritis: results from a large trans-ethnic meta-analysis.

  23899688   Polymorphisms in FAM167A-BLK, but not in BANK1, are associated with primary Sjögren's syndrome in a Chinese Han population.

  24386384   Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.

  24577620   8p22-23-rs2254546 as a susceptibility locus for Kawasaki disease: a case-control study and a meta-analysis.

  24632671   Association between a C8orf13-BLK polymorphism and polymyositis/dermatomyositis in the Japanese population: an additive effect with STAT4 on disease susceptibility.

  24702955   Two functional lupus-associated BLK promoter variants control cell-type- and developmental-stage-specific transcription.

  24946689   Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus.

  25328554   Systemic Sclerosis is a Complex Disease Associated Mainly with Immune Regulatory and Inflammatory Genes.

  25470816   Possible single-nucleotide polymorphism loci associated with systemic sclerosis susceptibility: a genetic association study in a Chinese Han population.

  25545785   The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.

  25846585   Single nucleotide polymorphisms in the FAM167A-BLK gene are associated with polymyositis/dermatomyositis in the Han Chinese population.

  25862617   Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations.

  26106387   Pathogenesis of Systemic Sclerosis.

  26880555   Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity.

  27067206   Association between BLK polymorphisms and susceptibility to SLE : A meta-analysis.

  27088737   Genetic risk of TNFSF4 and FAM167A-BLK polymorphisms in children with asthma and allergic rhinitis in a Han Chinese population.

  27864698   BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares.

  28713926   Association between TNFSF4 and BLK gene polymorphisms and susceptibility to allergic rhinitis.

  28885337   B-cell lymphocyte kinase polymorphisms rs13277113, rs2736340, and rs4840568 and risk of autoimmune diseases: A meta-analysis.

  28925718   Interaction analysis between BLK rs13277113 polymorphism and BANK1 rs3733197 polymorphism, MMEL1/TNFRSF14 rs3890745 polymorphism in determining susceptibility to rheumatoid arthritis.

  29070082   Sex influences eQTL effects in SLE and genetic polymorphisms associated with Sjögren's syndrome.

  30351170   Polymorphisms of FAM167A-BLK Region Confer Risk of Autoimmune Thyroid Disease.

  30589937   Associations of secreted phosphoprotein 1 and B lymphocyte kinase gene polymorphisms with autoimmune thyroid disease.

  31134304   BLK and BANK1 polymorphisms and interactions are associated in Mexican patients with systemic lupus erythematosus.

  31659207   Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.

  32153635   Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population.

  32330537   Associations of IL6 rs1800795, BLK rs13277113, TIMP3 rs9621532, IL1RL1 rs1041973 and IL1RAP rs4624606 single gene polymorphisms with laryngeal squamous cell carcinoma.

  32771030   Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.

  33756160   BLK and BANK1 variants and interactions are associated with susceptibility to primary Sjögren's syndrome and several clinical features.

  33975174   Polymorphisms in TNFAIP3, but not in STAT4, BANK1, BLK, and TNFSF4, are associated with susceptibility to Takayasu arteritis.

  34464884   Assessment of genetic polymorphisms within nuclear factor-κB signaling pathway genes in rheumatoid arthritis: Evidence for replication and genetic interaction.

  34525002   Genetic Polymorphisms in Patients With Systemic Lupus Erythematosus and Jaccoud Arthropathy: A Pilot Study.

  34637583   BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.

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