|
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
CONCLUSIONS : As per our results, we suggest that HLA-A*02:06 and HLA-C*03:04 might be positive markers for CM-SJS/TEN with SOC, and HLA-C*03:03 might be an indicator of protection against CM-SJS/TEN with SOC in the Korean population.
|
30705045 |
2019 |
|
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our study confirmed the association of the rs5010528 SNP in the HLA-C region with susceptibility to developing SJS/TEN in a population from Mozambique, suggesting that it could be a good genomic biomarker for SJS/TEN susceptibility in different sub-Saharan populations.
|
29762688 |
2018 |
|
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Additionally, 17 of 49 patients with CM-SJS/TEN with SOC (34.7%) significantly harboured the HLA-B*44:03 and HLA-C*07:01 haplotype compared with only 11 of 159 healthy controls (6.9%) (OR=7.1, p=5.5×10<sup>-6</sup>).
|
29706602 |
2018 |
|
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Human leukocyte antigen class I genes (HLA-A, HLA-B, and HLA-C) were examined to determine whether there was a genetic predisposition for CM-SJS/TEN with SOC.
|
28278336 |
2017 |
|
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The most promising signal was seen in SJS/TEN, where rs5010528 ( HLA-C locus) approached genome-wide significance ( P < 8.5 × 10 -8 ) and was below HLA -wide significance ( P < 2.5 × 10 -4 ) in the meta-analysis of discovery and replication cohorts [OR 4.84 (95% CI 2.71-8.61)]. rs5010528 is a strong proxy for HLA-C*04:01 carriage: in silico docking showed that two residues (33 and 123) in the B pocket were the most likely nevirapine interactors.
|
28062682 |
2017 |
|
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We also found that the haplotypes consisting of HLA-B*44:03 and HLA-C*07:01 were strongly associated with SJS/TEN with SOC in our Indian population (p = 1.1 × 10<sup>-7</sup>, odds ratio = 11.0).
|
29162886 |
2017 |
|
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
SJS and TEN were found to be significantly associated with HLA-A*33:03 and HLA-C*03:02 alleles in both groups of studies with matched controls and population controls.
|
28438823 |
2017 |
|
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Six HLA alleles including HLA-A*33:03, HLA-B*38:02, HLA-B*51:01, HLA-B*56:02, HLA-B*58:01, and HLA-C*14:02 were significantly associated with phenytoin-related SJS/TEN, whereas only the HLA-B*51:01 was significantly associated with phenytoin-related DRESS.
|
26928377 |
2016 |
|
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
HLA-C*01:02, which is closely linked to HLA-B*59:01, had a weaker but notable association with methazolamide-induced SJS/TEN compared with the tolerant controls (OR=12.1; P=0.016) and general population (OR=15.5; P=2.0 × 10(-3)).
|
25918017 |
2016 |
|
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The frequencies of three alleles of HLA, namely HLA-B*15:02, HLA-C*06:02, and HLA-C*08:01, were significantly higher in the co-trimoxazole-induced SJS/TEN group compared with controls.
|
26086150 |
2015 |
|
Schwartz-Jampel Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The OR for absolute risk of SJS/TEN associated with carriage of HLA-C*04:01 was 5.17 (95% CI, 2.39-11.18).
|
23362284 |
2013 |
|
Schwartz-Jampel Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
There was no association between HLA-C and SJS/TEN.
|
18385790 |
2008 |