Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that the rs13277113A allele is associated not only with SLE but also with SSc and that the FAM167A-BLK region is a common genetic risk factor for both SLE and SSc.
|
20131239 |
2010 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The rs2230926 allele of TNFAIP3 was associated with susceptibility to SLE in males, but after Bonferroni correction there were no significant associations with any of the other four SNPs in IRF5, BLK, TNIP1 and ETS1 genes.
|
24023622 |
2013 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
|
31101814 |
2019 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our data confirm previous reports: BLK and BANK1 are factors associated with SLE.
|
31134304 |
2019 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We found the first evidence of genetic association between lupus in African American patients and 5 susceptibility loci (C8orf13-BLK, BANK1, TNFSF4, KIAA1542, and CTLA4; P = 8.0 × 10⁻⁶, P = 1.9 × 10⁻⁵, P = 5.7 × 10⁻⁵, P = 0.00099, and P = 0.0045, respectively).
|
21792837 |
2011 |
Lupus Erythematosus, Systemic
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We identified and then confirmed through replication two new genetic loci for SLE: a promoter-region allele associated with reduced expression of BLK and increased expression of C8orf13 and variants in the ITGAM-ITGAX region.
|
18204098 |
2008 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
In a combined analysis of 1596 SLE patients and 2540 controls for selected 22 candidate SNP, STAT4 and BLK as positive controls showed a strong association with SLE (FDR p=9.85×10(-13) and 2.28×10(-8), respectively).
|
23740238 |
2014 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Epistatic interactions between BANK1 and BLK polymorphisms associated with SLE were observed in a discovery set of 279 patients and 515 controls from northern Europe.
|
21978998 |
2012 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These strong effects facilitate fine mapping of cis-regulatory SNPs, as demonstrated by dissection of heritable control of transcripts in the systemic lupus erythematosus-associated C8orf13-BLK region in chromosome 8.
|
19838192 |
2009 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Multiplicative interaction analysis indicated that BLK had an interactive effect with TNFSF4 in Chinese patients with SLE (P=6.57×10(-4)).
|
21905002 |
2012 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BANK1, BLK and SNP in 1q25.1 region were associated with not only SLE but also APS in Japanese population.
|
25524556 |
2015 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The current report sought to determine if polymorphisms in the C8orf13-BLK region (chromosome 8p23.1-B lymphoid tyrosine kinase), which is associated with SLE, are associated also with SSc.
|
19796918 |
2010 |
Lupus Erythematosus, Systemic
|
0.700 |
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 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
With these studies, it has been established that a number of genes associated with SLE in Caucasians are also risk factors in Asians: HLA class II genes, STAT4, BANK1, BLK, IRF5, TNFSF4, ITGAM, etc., while there are also novel genetic risk factors identified by these studies in Asians, for instance, the ETS1 and WDFY4 in Chinese.
|
20947545 |
2010 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
The effect of inversion at 8p23 on BLK association with lupus in Caucasian population.
|
25545785 |
2014 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The genetic variation in the B lymphoid tyrosine kinase (BLK) gene was found to associate with SLE in Caucasian population.
|
22313735 |
2012 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
BANK1 and BLK belong to the pleiotropic autoimmune genes; recently, epistasis between BANK1 and BLK was detected in systemic lupus erythematosus.
|
23646104 |
2013 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our data confirmed association of STAT4 (rs7574865, odds ratio (OR) =1.71, P=3.55 x 10(-23)) and BLK (rs13277113, OR=0.77, P=1.34 x 10(-5)) with SLE.
|
19225526 |
2009 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
However, genetic association studies that have examined the association between BLK gene variants and SLE have produced conflicting results.
|
21152986 |
2011 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The B-lymphocyte kinase (BLK) gene is associated genetically with several human autoimmune diseases including systemic lupus erythematosus.
|
26821283 |
2016 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
CFH (P=8.41 × 10(-6)), HLA-DRA (P=4.91 × 10(-6)), HLA-DRB1 (P=9.46 × 10(-9)), PXK (P=3.62 × 10(-4)), BLK (P=9.32 × 10(-3)), and UBE2L3 (P=4.07 × 10(-3)) were identified as shared genes between IgAN and SLE.
|
24458077 |
2014 |
Lupus Erythematosus, Systemic
|
0.700 |
Biomarker
|
disease |
BEFREE |
Gene-gene interaction of ATG5, ATG7, BLK and BANK1 in systemic lupus erythematosus.
|
26420661 |
2016 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares.
|
27864698 |
2017 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this report, we used a trans-population mapping and sequencing strategy to identify a common variant (rs922483) in the proximal BLK promoter and a tri-allelic variant (rs1382568) in the upstream alternative BLK promoter as putative causal variants for association with systemic lupus erythematosus.
|
24702955 |
2014 |
Lupus Erythematosus, Systemic
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility.
|
26092158 |
2015 |