|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
DRB1*04:02, DRB1*14:04, DQB1*03:02 and DQB1*05:03 alleles were shown to be strongly associated with PV (P adj = 1.63 × 10(-12), 5.20 × 10(-7), 1.28 × 10(-6), and 4.44 × 10(-5), respectively).
|
27072514 |
2016 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A fine-mapping analysis of PV risk in the major histocompatibility complex region showed three independent variants predisposed to PV using stepwise analysis: HLA-DRB1*14:04 (P = 2.47 × 10<sup>-38</sup>, odds ratio = 6.28), rs7454108 at the TAP2 gene (P = 2.78 × 10<sup>-12</sup>, odds ratio = 3.25), and rs1051336 at the HLA-DRA gene (P = 3.06 × 10<sup>-6</sup>, odds ratio = 0.33).
|
29857070 |
2018 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
A significant association between HLA-DRB1*04 (OR = 3.86; pcor = 0.0001) and DRB1*14 (OR = 8.4; pcor = 0.0001) and pemphigus vulgaris was found.
|
14760938 |
2003 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
All DRB1*04 and DRB1*14 alleles carried by PV patients with different ethnic backgrounds reported to date, including DRB1*0402, which confers strong susceptibility to PV among Jewish populations, have amino acid residues Phe26, Leu67 or Ile67, and Val86, as well as hydrophilic amino acid residues at positions 70 and 71 of the DRB1 beta chain.
|
9714477 |
1998 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Dsg3-specific T-cell responses were detected in PV patients but also in healthy individuals who were either carriers of the PV-associated DRB1*0402 allele or alleles that share similar or identical peptide binding motifs to DRB1*0402.
|
12878355 |
2003 |
|
HLA-DRB1
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Genetic factors are involved in the occurrence of PV; HLA-DRB1*04 and -DRB1*1401 alleles and the related haplotypes are suggestive to be two major PV susceptibility factors in our population study.
|
18780165 |
2009 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
HLA-DQB1*05:03 ranks at the top (P = 4·7 × 10<sup>-40</sup> ; odds ratio 12·4) in both subtypes, with significantly different risk allele frequency (RAF<sub>PV</sub> = 34·2% vs. RAF<sub>PF</sub> = 18·8% vs. RAF<sub>control</sub> = 4·4%), whereas HLA-DRB1*14:01 and HLA-DRB1*04:06 are PV specific.
|
30230522 |
2019 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
In addition, DRB1*14 was demonstrated to be a second independent variants (P = 4.2 × 10<sup>-63</sup> , OR = 35.47) for PV, while DRB1*04:06 was demonstrated to be the second independent signal (P = 7.44 × 10<sup>-13</sup> , OR = 5.58) for PF.
|
30169916 |
2019 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, while <i>HLA-DRB1*04:02</i> confers susceptibility to PV, this and other alleles that encode the same sequence motif in the 70-74 region of the DR beta chain are protective against RA.
|
27814654 |
2017 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that HLA DRB1*04 and DRB1*14 alleles, and HLA DRB1*04/DQB1*03 and HLA DRB1*14/DQB1*05 haplotypes are genetic markers for general susceptibility to PV in the Turkish population.
|
20507388 |
2010 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our findings suggest that DRB1*04, DRB1*08 and DRB1*14 are statistically significant susceptibility factors for PV.
|
22564118 |
2012 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results support the hypothesis that the DRB1*0402 without DQB1*0302 is the most relevant HLA-DRB1 allele responsible for the pathogenesis of pemphigus in Venezuelan patients with PV and discard the DQB1*0302 influence observed in other populations.
|
17389015 |
2007 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Patients that carry both the PV-associated human leukocyte antigen (HLA) alleles DRB1*0402 and DQB1*0503, or DQB1*0503 alone show a low prevalence of anti-TPO (A.R.
|
29675021 |
2018 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
GWASDB |
Population-specific association between a polymorphic variant in ST18, encoding a pro-apoptotic molecule, and pemphigus vulgaris.
|
22437316 |
2012 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Since 86% (19 of 22) of DRw6+ patients contain the DQB1.3 allele (vs. 3% of controls), whereas 64% (14 of 22) contain the DRB1 allele 6B (vs. 6% of the controls), we conclude that most of the DRw6 susceptibility to PV can be accounted for by the DQ beta chain.
|
2503828 |
1989 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Studies showed that the associated HLA haplotype in Jewish pemphigus vulgaris (PV) patients is HLA-B38, DRB1*0402, and DQB1*0302; or HLA-B35, DRB1*0402, and DQB1*0302.
|
15009804 |
2004 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Subjects were typed for HLA class II DRB1 and DQB1 alleles, and categorized as HLA-matched if homozygous or heterozygous for either one of the known PV-susceptibility alleles, DRB1*0402 and DQB1*0503.
|
28174139 |
2017 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Susceptibility to pemphigus vulgaris (PV), an autoimmune disease of the skin, is linked to a rare subtype of HLA-DR4 (DRB1*0402, 1 of 22 known DR4 subtypes).
|
8524878 |
1995 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
Taking advantage of an area where pemphigus foliaceus (PF) and pemphigus vulgaris (PV) are prevalent in the northeastern region of the state of São Paulo, Southeastern Brazil, we have studied the HLA class I (A, B and C) and class II (DRB1 and DQA1/DQB1) profiles in 86 and 83 patients with PF and PV, respectively, as compared with 1592 controls from the same region.
|
27178774 |
2016 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Taking together these data, we can conclude that, in the Spanish population, PV is preferentially and strongly associated with HLA-DRB1*0402, whereas DRB1*13 seems to confer a protective effect in our population.
|
9802608 |
1998 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The HLA DRB1* and DQB1* alleles influence susceptibility to PV and may contribute to PV severity and type.
|
24602055 |
2015 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The DRB1*04:02 and DQB1*05:03 alleles are associated with pemphigus vulgaris in our study as well as in various populations.
|
28197992 |
2017 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The DR and DQ molecular alleles positively associated with PV were two different haplotypes: DRb1* 0402/DQb1* 0302 and DRb1* 1401/DQb1* 0503.
|
12196893 |
2003 |
|
HLA-DRB1
|
0.200 |
Biomarker
|
disease |
BEFREE |
The occurrence of PV is positively associated with HLA-DRB1*14 and HLA-DRB1*0402 but negatively associated with HLA-DRB1*11 in the Syrian population.
|
24697292 |
2014 |
|
HLA-DRB1
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The strength of the allele associations to PV is in agreement with the view that the main PV susceptibility genes are the DRB1*0402 and DQB1*0503 alleles.
|
9008308 |
1996 |