rs4979462
|
|
|
0.830 |
GeneticVariation |
GWASCAT |
POGLUT1, the putative effector gene driven by rs2293370 in primary biliary cholangitis susceptibility locus chromosome 3q13.33.
|
30643196 |
2019 |
rs4979462
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC.
|
28062665 |
2017 |
rs4979462
|
|
C |
0.830 |
GeneticVariation |
GWASCAT |
A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC.
|
28062665 |
2017 |
rs4979462
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Using genetic data from published studies on CD, PBC and leprosy we revealed that bearing a T allele at rs6478108/rs6478109 (r(2) = 1) or rs4979462 was significantly associated with increased risk of CD and decreased risk of leprosy, while the T allele at rs4979462 was associated with significantly increased risk of PBC.
|
27507062 |
2016 |
rs4979462
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Moreover, higher endogenous TNFSF15 protein and mRNA expression levels were observed in individuals with the PBC-susceptible allele of rs4979462.
|
25899471 |
2015 |
rs4979462
|
|
T |
0.830 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs4979462
|
|
T |
0.830 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs2293370
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC.
|
30643196 |
2019 |
rs2293370
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This is the first study to demonstrate that POGLUT1 and not CD80 is the effector gene regulated by the primary functional SNP rs2293370, and that increased expression of POGLUT1 might be involved in the pathogenesis of PBC.
|
30643196 |
2019 |
rs2293370
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide association studies identify PRKCB as a novel genetic susceptibility locus for primary biliary cholangitis in the Japanese population.
|
28062665 |
2017 |
rs4938534
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC.
|
28062665 |
2017 |
rs4938534
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A previous genome-wide association study (GWAS) performed in 963 Japanese individuals (487 primary biliary cholangitis [PBC] cases and 476 healthy controls) identified TNFSF15 (rs4979462) and POU2AF1 (rs4938534) as strong susceptibility loci for PBC.
|
28062665 |
2017 |
rs2293370
|
|
G |
0.810 |
GeneticVariation |
GWASCAT |
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
|
26394269 |
2015 |
rs7574865
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We detected significant associations with PBC susceptibility for several STAT4 SNPs (rs10168266; P = 9.4 × 10(-3), rs11889341; P = 1.2 × 10(-3), rs7574865; P = 4.0 × 10(-4), rs8179673; P = 2.0 × 10(-4), and rs10181656; P = 4.2 × 10(-5)).
|
24648611 |
2014 |
rs2293370
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs2293370
|
|
|
0.810 |
GeneticVariation |
GWASDB |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |
rs2293370
|
|
G |
0.810 |
GeneticVariation |
GWASCAT |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |
rs2293370
|
|
C |
0.810 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs2293370
|
|
|
0.810 |
GeneticVariation |
GWASDB |
Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants.
|
22936693 |
2012 |
rs4938534
|
|
A |
0.810 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs4938534
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs7574865
|
|
A |
0.810 |
GeneticVariation |
GWASCAT |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |
rs7574865
|
|
T |
0.810 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs7574865
|
|
T |
0.810 |
GeneticVariation |
GWASCAT |
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
|
23000144 |
2012 |
rs7574865
|
|
C |
0.810 |
GeneticVariation |
GWASCAT |
Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis.
|
22961000 |
2012 |