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:
Research and publications:
18204098 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
20018015 Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.
20131239 Association of the FAM167A-BLK region with systemic sclerosis.
20156505 Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis.
20392289 Genetic associations in type I interferon related pathways with autoimmunity.
20807474 The genetics of systemic sclerosis.
20933377 Recent findings on genetics of systemic autoimmune diseases.
21060334 Genetic susceptibility to systemic lupus erythematosus in the genomic era.
21719445 Phenotypic associations of genetic susceptibility loci in systemic lupus erythematosus.
21905002 Gene-gene interaction of BLK, TNFSF4, TRAF1, TNFAIP3, and REL in systemic lupus erythematosus.
22102179 Genetics of systemic sclerosis: an update.
22536486 Lupus nephritis: an overview of recent findings.
22640752 The genetics of lupus: a functional perspective.
22654485 Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.
24386384 Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.
25545785 The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.
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.
28713926 Association between TNFSF4 and BLK gene polymorphisms and susceptibility to allergic rhinitis.
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.
34637583 BLK polymorphisms and expression level in neuromyelitis optica spectrum disorder.