rs6000782
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Association of <i>CARD10</i> rs6000782 and <i>TNF</i> rs1799724 variants with paediatric-onset autoimmune hepatitis.
|
30581618 |
2019 |
rs3184504
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH.
|
28703133 |
2017 |
rs3184504
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)).
|
24768677 |
2014 |
rs6000782
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)).
|
24768677 |
2014 |
rs1799724
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of <i>CARD10</i> rs6000782 and <i>TNF</i> rs1799724 variants with paediatric-onset autoimmune hepatitis.
|
30581618 |
2019 |
rs1800871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a meta-analysis to assess the association between three IL10 promoter polymorphisms (rs1800896, rs1800871, and rs1800872) and the risk of autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis.
|
29694797 |
2018 |
rs1800872
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We performed a meta-analysis to assess the association between three IL10 promoter polymorphisms (rs1800896, rs1800871, and rs1800872) and the risk of autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis.
|
29694797 |
2018 |
rs2069762
|
|
|
0.010 |
GeneticVariation |
BEFREE |
G/T alleles of IL-2 at -330 (rs2069762) and A/T alleles on UTR +5644 position at IFN-γ and their subsequent haplotypes, did not show significant association with AIH.
|
29288086 |
2018 |
rs2069763
|
|
|
0.010 |
GeneticVariation |
BEFREE |
IL-2 T allele at position +166 (rs2069763) showed significant higher frequency in AIH group (36%), compared to the controls (21%) (OR=2.06; 95% CI, 1.24-3.43, P-value<0.01).
|
29288086 |
2018 |
rs7708392
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The C allele of rs7708392 was associated with AIH, especially AIH without DRB1*04:05, an already established risk factor.
|
29559739 |
2018 |
rs9277534
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analysis revealed that the HLA-DRB1*04:05 allele (P < 0.001, OR = 4.61) and rs9277534 (P = 0.004, OR = 1.67) were independently associated with AIH susceptibility. rs9277534G in the HLA-DP gene is an eQTL that affects gene expression and may contribute to AIH susceptibility.
|
30093645 |
2018 |
rs11065904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although the functional rs3184504 was non-polymorphic in 952 subjects, the frequency of the minor rs11065904 T allele was significantly decreased in AIH patients compared with healthy controls (odds ratio (OR)=0.68; corrected P=0.025).
|
28703133 |
2017 |
rs2238154
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype 2 (rs2238154 A, rs11065904 T and rs739496 G) was associated with resistance to AIH (OR 0.67, P=0.021) as well as to autoimmune pancreatitis (OR=0.70, P=0.035).
|
28703133 |
2017 |
rs2476601
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that rs7574865 and rs7582694 in <i>STAT4</i> gene minor alleles, interaction between rs7582694 and rs2476601, and haplotype containing the rs7582694-C and rs7574865-T alleles are associated with increased type 1 AIH risk, but rs2476601 in <i>PTPN22</i> gene minor allele is associated with decreased type 1 AIH risk.
|
28977835 |
2017 |
rs4325730
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The previous genome-wide association study on type 1 AIH in a European population has reported a risk G allele of a single nucleotide polymorphism (SNP), rs4325730, in this region.
|
27974812 |
2017 |
rs739496
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Haplotype 2 (rs2238154 A, rs11065904 T and rs739496 G) was associated with resistance to AIH (OR 0.67, P=0.021) as well as to autoimmune pancreatitis (OR=0.70, P=0.035).
|
28703133 |
2017 |
rs7574865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that rs7574865 and rs7582694 in <i>STAT4</i> gene minor alleles, interaction between rs7582694 and rs2476601, and haplotype containing the rs7582694-C and rs7574865-T alleles are associated with increased type 1 AIH risk, but rs2476601 in <i>PTPN22</i> gene minor allele is associated with decreased type 1 AIH risk.
|
28977835 |
2017 |
rs7582694
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We conclude that rs7574865 and rs7582694 in <i>STAT4</i> gene minor alleles, interaction between rs7582694 and rs2476601, and haplotype containing the rs7582694-C and rs7574865-T alleles are associated with increased type 1 AIH risk, but rs2476601 in <i>PTPN22</i> gene minor allele is associated with decreased type 1 AIH risk.
|
28977835 |
2017 |
rs2488458
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Although the functional rs3996649 and rs2476601 were non-polymorphic in all subject groups, the frequencies of the minor alleles at rs1217412, rs1217388, rs1217407, and rs2488458 were significantly decreased in AIH patients as compared with controls (all Pc < 0.05).
|
27406031 |
2016 |
rs755622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A MIF-173 GC single nucleotide polymorphism in the MIF promoter (rs755622) is clinically associated with steroid resistance in several inflammatory disorders but has not been evaluated in AIH.
|
27696094 |
2016 |
rs231775
|
|
|
0.010 |
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 |
rs2187668
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We associated AIH with a variant in the major histocompatibility complex region at rs2187668 (P = 1.5 × 10(-78)).
|
24768677 |
2014 |
rs5844572
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two MIF promoter polymorphisms, a functional -794 CATT5-8 microsatellite repeat (rs5844572) and a -173 G/C single-nucleotide polymorphism (rs755622), were analyzed in DNA samples from over 500 patients with AIH, PBC, and controls.
|
23913513 |
2014 |
rs121434254
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein.
|
11343230 |
2001 |