|
rs4620530
|
|
|
0.010 |
GeneticVariation |
BEFREE |
CHRM3 single-nucleotide polymorphism rs4620530 might confer an increased genetic risk for the development of PBC.
|
31747477 |
2020 |
|
rs12946510
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, expression-quantitative trait locus (e-QTL) analyses showed that the PBC susceptibility allele of rs12946510 was significantly associated with lower endogenous expression of ORMDL3 and GSDMB in whole blood and spleen.
|
28588209 |
2017 |
|
rs2843403
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although no significant differences in clinical or biochemical characteristics between patients with PBC and PBC-AITD were seen (all P>0.05), liver function tests and metabolic traits in PBC patients were significantly (all P<0.05) affected by the CTLA4 (rs3087243), MMEL1 (rs2843403), PTPN22 (rs2476601) and RNASET2 (rs9355610) variants.
|
28922436 |
2017 |
|
rs35730843
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP, rs35730843, mapping to the POLR2G gene promoter (P = 1.2 × 10<sup>-5</sup>, OR = 0.39) demonstrated the highest effect size, and was protective for PBC, whereas for PSC respective SNPs were: rs13191240 in the intron of ADGRB3 gene (P = 0.0095, OR = 0.2) and rs3822659 (P = 0.0051, OR = 0.236) along with rs9686714 (P = 0.00077, OR = 0.2), both located in the WWC1 gene.
|
28056976 |
2017 |
|
rs3822659
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The SNP, rs35730843, mapping to the POLR2G gene promoter (P = 1.2 × 10<sup>-5</sup>, OR = 0.39) demonstrated the highest effect size, and was protective for PBC, whereas for PSC respective SNPs were: rs13191240 in the intron of ADGRB3 gene (P = 0.0095, OR = 0.2) and rs3822659 (P = 0.0051, OR = 0.236) along with rs9686714 (P = 0.00077, OR = 0.2), both located in the WWC1 gene.
|
28056976 |
2017 |
|
rs9355610
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although no significant differences in clinical or biochemical characteristics between patients with PBC and PBC-AITD were seen (all P>0.05), liver function tests and metabolic traits in PBC patients were significantly (all P<0.05) affected by the CTLA4 (rs3087243), MMEL1 (rs2843403), PTPN22 (rs2476601) and RNASET2 (rs9355610) variants.
|
28922436 |
2017 |
|
rs2569190
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PSC and LTx cohort patients and primary biliary cirrhosis (PBC) control patients were genotyped for the CD14 -260C>T (rs2569190) polymorphism, and genotypes were correlated with long-term clinical outcome.
|
26970220 |
2016 |
|
rs6478109
|
|
|
0.010 |
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 |
|
rs1256030
|
|
|
0.010 |
GeneticVariation |
BEFREE |
ESR2 rs1256030 T allele may be a significant risk factor for the development of PBC.
|
26608979 |
2015 |
|
rs2234693
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The C allele at ESR1 rs2234693 was associated with abnormal alkaline phosphatase (OR = 5.2469, 95% CI = 1.3704-20.0895) and gamma-glutamyl transferase (OR = 3.4286, 95% CI = 1.0083-13.6578) levels in PBC patients.
|
26608979 |
2015 |
|
rs2838519
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two CD susceptibility genes, ICOSLG rs2838519 and IL12B rs6556412, were also nominally associated with susceptibility to PBC (P=3.85 × 10(-2) and P=8.40 × 10(-3), respectively).
|
26084578 |
2015 |
|
rs3798577
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotypes TGC of ESR1 rs2234693, rs2228480, and rs3798577 were risk factors for having PBC.
|
26608979 |
2015 |
|
rs55768522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By the case-control association studies using PBC patients (n = 1279) and healthy controls (n = 1091) in the Japanese population, rs4979462 [P = 1.85 × 10(-14) (our previous study)], rs56211063 (P = 2.21 × 10(-14)), and rs55768522 (r(2) = 1 with rs4979462) were likely candidates for causal variants.
|
25899471 |
2015 |
|
rs56211063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
By the case-control association studies using PBC patients (n = 1279) and healthy controls (n = 1091) in the Japanese population, rs4979462 [P = 1.85 × 10(-14) (our previous study)], rs56211063 (P = 2.21 × 10(-14)), and rs55768522 (r(2) = 1 with rs4979462) were likely candidates for causal variants.
|
25899471 |
2015 |
|
rs6556412
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two CD susceptibility genes, ICOSLG rs2838519 and IL12B rs6556412, were also nominally associated with susceptibility to PBC (P=3.85 × 10(-2) and P=8.40 × 10(-3), respectively).
|
26084578 |
2015 |
|
rs10181656
|
|
|
0.010 |
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 |
|
rs11889341
|
|
|
0.010 |
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 |
|
rs1544410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results indicated that TaqI (rs731236) polymorphism was significantly associated with PBC risk (for T vs t OR = 0.75, 95% CI 0.63, 0.89, Pz = 0.001; TT + Tt vs tt OR = 0.62, 95% CI 0.44, 0.86, Pz = 0.005; OR = 0.74, 95% CI 0.58, 0.94, Pz = 0.016 for recessive model), while ApaI (rs7975232) or BsmI (rs1544410) polymorphism did not.
|
24224838 |
2014 |
|
rs2287618
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggested that BSEP rs473351 was closely associated with the susceptibility of PBC and if people with BSEP rs2287618 were diagnosed as PBC, the UDCA treatment was not satisfactory.
|
25392597 |
2014 |
|
rs473351
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These results suggested that BSEP rs473351 was closely associated with the susceptibility of PBC and if people with BSEP rs2287618 were diagnosed as PBC, the UDCA treatment was not satisfactory.
|
25392597 |
2014 |
|
rs731236
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results indicated that TaqI (rs731236) polymorphism was significantly associated with PBC risk (for T vs t OR = 0.75, 95% CI 0.63, 0.89, Pz = 0.001; TT + Tt vs tt OR = 0.62, 95% CI 0.44, 0.86, Pz = 0.005; OR = 0.74, 95% CI 0.58, 0.94, Pz = 0.016 for recessive model), while ApaI (rs7975232) or BsmI (rs1544410) polymorphism did not.
|
24224838 |
2014 |
|
rs738409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we assess the association of the PNPLA3 variant p.Ile148Met, known to be associated with (non-)alcoholic fatty liver disease (NAFLD) in genome-wide association studies, with cholestatic itch in 187 patients with primary biliary cirrhosis (PBC) and 250 PBC-free controls as well as 201 women with intrahepatic cholestasis of pregnancy (ICP) and 198 female controls without a history of ICP.
|
25297933 |
2014 |
|
rs7975232
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results indicated that TaqI (rs731236) polymorphism was significantly associated with PBC risk (for T vs t OR = 0.75, 95% CI 0.63, 0.89, Pz = 0.001; TT + Tt vs tt OR = 0.62, 95% CI 0.44, 0.86, Pz = 0.005; OR = 0.74, 95% CI 0.58, 0.94, Pz = 0.016 for recessive model), while ApaI (rs7975232) or BsmI (rs1544410) polymorphism did not.
|
24224838 |
2014 |
|
rs8179673
|
|
|
0.010 |
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 |
|
rs1234313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In TNFSF4, T allele and TT genotype of rs2205960, and G allele of rs1234313, were associated with pSS (p<0.05); T allele of rs2205960 was correlated with PBC (p<0.05) as a risk factor.
|
23622253 |
2013 |