|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The association of the C8orf13-BLK region with SLE was replicated in a Japanese population.
|
19180478 |
2009 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The findings confirm the association of the BLK and UBE2L3 loci with RA, thus adding to the list of loci showing overlap between RA and SLE.
|
21068098 |
2011 |
|
Lupus Erythematosus, Systemic
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Concordance of increased B1 cell subset and lupus phenotypes in mice and humans is dependent on BLK expression levels.
|
25972485 |
2015 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We conclude that the association of the BLK region with SLE was replicated in Chinese Han population living in mainland.
|
20130895 |
2010 |
|
Lupus Erythematosus, Systemic
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Methylation site cg09528494 and mRNA expression of BLK were causally associated with SLE.
|
31670388 |
2020 |
|
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To perform fine mapping of the autoimmunity susceptibility gene BLK and identify functional variants involved in systemic lupus erythematosus (SLE).
|
22696686 |
2012 |
|
Maturity onset diabetes mellitus in young
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
No rare non-synonymous BLK mutations were found in the MODY patients.
|
23224494 |
2013 |
|
Maturity onset diabetes mellitus in young
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
|
19667185 |
2009 |
|
Rheumatoid Arthritis
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The combined dataset also provides definitive support for associations at both CTLA4 (rs231735; OR = 0.85; P = 6.25 x 10(-9)) and BLK (rs2736340; OR = 1.19; P = 5.69 x 10(-9)). c-Rel is an NF-kappaB family member with distinct functional properties in hematopoietic cells, and its association with rheumatoid arthritis suggests disease pathways that involve other recently identified rheumatoid arthritis susceptibility genes including CD40, TRAF1, TNFAIP3 and PRKCQ.
|
19503088 |
2009 |
|
Rheumatoid Arthritis
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
The SNPs mapping to the BLK and UBE2L3 loci showed significant evidence for association with RA.
|
21068098 |
2011 |
|
Rheumatoid Arthritis
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
In individuals carrying the BLK rs13277113 GG genotype, presence of the BANK1 rs3733197 G allele increased the risk of RA (odds ratio 1.21 [95% confidence interval 1.04-1.41], P = 0.015.
|
23646104 |
2013 |
|
Rheumatoid Arthritis
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.0001, OR 1.63) from C8orf13-BLK (8p23.1, associated with RA and systemic lupus erythematosus), and rs763361 (p = 0.03) from CD226 (18q22.3, associated with multiple sclerosis and type 1 diabetes) in the Colombian population.
|
21765104 |
2011 |
|
Rheumatoid Arthritis
|
0.460 |
Biomarker
|
disease |
BEFREE |
A non-intronic marker at TNFAIP3, GIN1/C5orf30, STAT4, ANKRD55/IL6ST, BLK and PTPN22 showed association with RA susceptibility, irrespective of the serological status, the latter three markers remaining significantly associated with anti-CCP negative RA, after correction for multiple testing.
|
22661644 |
2012 |
|
Rheumatoid Arthritis
|
0.460 |
Biomarker
|
disease |
BEFREE |
We confirmed the known markers ANKRD55 (meta-analysis odds ratio [OR] 0.80; P = 2.8 × 10(-13) ) and BLK (OR 1.13; P = 7.0 × 10(-6) ) and identified new and specific markers of anti-CCP-negative RA (prolactin [PRL] [OR 1.13; P = 2.1 × 10(-6) ] and NFIA [OR 0.85; P = 2.5 × 10(-6) ]).
|
26895230 |
2016 |
|
Mucocutaneous Lymph Node Syndrome
|
0.460 |
AlteredExpression
|
disease |
BEFREE |
Decreased BLK expression in peripheral blood B cells may alter B cell function and predispose individuals to KD.
|
24023612 |
2013 |
|
Mucocutaneous Lymph Node Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies have identified several susceptibility genes for KD and its sequelae in different ethnic populations, including FCGR2A, CD40, ITPKC, FAM167A-BLK and CASP3, as well as genes influencing response to intravenous immunoglobulin (IVIG) and aneurysm formation such as FCGR3B, and transforming growth factor (TGF) β pathway genes.
|
24162006 |
2014 |
|
Mucocutaneous Lymph Node Syndrome
|
0.460 |
AlteredExpression
|
disease |
BEFREE |
These associations include ERAP1, CCR1-CCR3, STAT4, KLRC4, GIMAP4, and TNFAIP3 in Behçet's disease; BLK and CD40 in Kawasaki disease; SERPINA1 and SEMA6A in antineutrophil cytoplasmic antibody associated vasculitides; IL12B and FCGR2A/ FCGR2A in Takayasu arteritis; and CECR1 in a newly defined vascular inflammatory syndrome associated with adenosine deaminase (ADA2) deficiency.
|
25405820 |
2015 |
|
Mucocutaneous Lymph Node Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
We report two new loci, one at BLK (encoding B-lymphoid tyrosine kinase) and one at CD40, that are associated with Kawasaki disease at genome-wide significance (P < 5 × 10(-8)).
|
22446961 |
2012 |
|
Mucocutaneous Lymph Node Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
A genome-wide association study (GWAS) identified polymorphisms in CD40, BLK, and FCGR2A as the susceptibility genes for KD.
|
25470559 |
2015 |
|
Mucocutaneous Lymph Node Syndrome
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Six single-nucleotide polymorphisms (SNPs) in three loci were associated significantly with KD susceptibility (P<1.0 × 10<sup>-5</sup>), including the previously reported BLK locus (rs6993775, odds ratio (OR)=1.52, P=2.52 × 10<sup>-11</sup>).
|
28855716 |
2017 |
|
Systemic Scleroderma
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
In tier 1 of the study, the rs13277113A allele in the BLK block exhibited the most significant association with SSc after correction for multiple testing (permutated P = 0.024).
|
20131239 |
2010 |
|
Systemic Scleroderma
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
Therefore, variants of the RHOB and FAM167A-BLK genes are promising genetic markers for SSc.
|
25470816 |
2014 |
|
Systemic Scleroderma
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
BANK1 and BLK B-cell genetic markers have been reproducibly and convincingly found to contribute to susceptibility to systemic sclerosis (SSc).
|
21961844 |
2012 |
|
Systemic Scleroderma
|
0.160 |
Biomarker
|
disease |
BEFREE |
Therefore, in a large cohort of French Caucasians and using a meta-analysis of the available data, this study was undertaken to determine whether the C8orf13-BLK locus is associated with SSc, and to assess the possibility of interaction between BLK and BANK1 in SSc.
|
21480188 |
2011 |
|
Systemic Scleroderma
|
0.160 |
GeneticVariation
|
disease |
BEFREE |
However, the frequency of Pss patients with the T allele (rs2736340) and A allele (rs13277113) of the FAM167A-BLK region was higher than that in the controls (p=0.034; p=0.026 respectively).
|
23899688 |
2013 |