|
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
|
|
|
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
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
rs10168266
|
|
|
0.710 |
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 |
|
rs243325
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Fine mapping identified 26 SNPs across the CLEC16A-SOCS1 and 11 SNPs across the SPIB locus with significant association to PBC, the strongest signals at the CLEC16A-SOCS1 locus emanating from a SOCS1 intergenic SNP (rs243325; P=9.91 × 10(-9)) and at the SPIB locus from a SPIB intronic SNP (rs34944112; P=3.65 × 10(-9)).
|
22257840 |
2012 |
|
rs6478108
|
|
|
0.710 |
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 |
|
rs231725
|
|
|
0.070 |
GeneticVariation |
BEFREE |
G allele of rs231775 and A allele of rs231725 were significantly associated with the risk of PBC.
|
23432218 |
2013 |
|
rs231725
|
|
|
0.070 |
GeneticVariation |
BEFREE |
This study indicated that the polymorphisms of rs231775 and rs231725 would be the risk factors of PBC.
|
28642883 |
2017 |
|
rs231725
|
|
|
0.070 |
GeneticVariation |
BEFREE |
TNF2A amplifies the CTLA4 rs231725 "A/A" genotype risk for PBC.
|
20578265 |
2010 |
|
rs231725
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We identified a novel and relatively strong association between PBC and rs231725, a SNP in the 3' flanking region of CTLA4 located outside of the area previously investigated in PBC.
|
18778710 |
2008 |
|
rs231725
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The G allele of rs231775 is a risk factor for PBC, while AA genotype of rs3087243 and GG, GA and G allele of rs231725 show negative associations with PBC.
|
22414241 |
2012 |
|
rs231725
|
|
|
0.070 |
GeneticVariation |
BEFREE |
One CTLA4 gene SNP (rs231725) was significantly associated with susceptibility to anti-mitochondrial antibody (AMA)-positive PBC, but clinical significance disappeared after correction for multiple testing.
|
20557968 |
2010 |
|
rs231725
|
|
|
0.070 |
GeneticVariation |
BEFREE |
The CTLA-4 haplotype 1 (rs231775 G, rs231777 C, rs3087243 G, rs231725 A; GCGA) was a risk factor for PBC susceptibility but a protective factor for PBC progression.
|
21594562 |
2011 |
|
rs231775
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This study indicated that the polymorphisms of rs231775 and rs231725 would be the risk factors of PBC.
|
28642883 |
2017 |
|
rs231775
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The CTLA-4 haplotype 1 (rs231775 G, rs231777 C, rs3087243 G, rs231725 A; GCGA) was a risk factor for PBC susceptibility but a protective factor for PBC progression.
|
21594562 |
2011 |
|
rs231775
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The G allele of rs231775 is a risk factor for PBC, while AA genotype of rs3087243 and GG, GA and G allele of rs231725 show negative associations with PBC.
|
22414241 |
2012 |
|
rs231775
|
|
|
0.050 |
GeneticVariation |
BEFREE |
CTLA-4 exon-1 +49A > G (rs231775) polymorphism has been reported to influence the risk for primary biliary cirrhosis (PBC) as well as type I autoimmune hepatitis (AIH-1) in many studies; however, the results still remain controversial and ambiguous.
|
25942345 |
2015 |
|
rs231775
|
|
|
0.050 |
GeneticVariation |
BEFREE |
G allele of rs231775 and A allele of rs231725 were significantly associated with the risk of PBC.
|
23432218 |
2013 |
|
rs3087243
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In haplotype analyses, one haplotype [haplotype 1 (CGGA)] at rs5742909, rs231775, rs3087243, and rs231725, was significantly associated with susceptibility to both AMA-positive PBC and overall PBC.
|
20557968 |
2010 |
|
rs3087243
|
|
|
0.050 |
GeneticVariation |
BEFREE |
PubMed and the Chinese National Knowledge Infrastructure (CNKI) database were used to search correlative literatures, and the documents which were about the relationships between the polymorphisms of <i>CTLA4</i> (rs231775, rs231725, rs3087243, and rs5742909) and PBC were collected as of June 2016.
|
28642883 |
2017 |
|
rs3087243
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The G allele of rs231775 is a risk factor for PBC, while AA genotype of rs3087243 and GG, GA and G allele of rs231725 show negative associations with PBC.
|
22414241 |
2012 |
|
rs3087243
|
|
|
0.050 |
GeneticVariation |
BEFREE |
The CTLA-4 haplotype 1 (rs231775 G, rs231777 C, rs3087243 G, rs231725 A; GCGA) was a risk factor for PBC susceptibility but a protective factor for PBC progression.
|
21594562 |
2011 |