|
rs5010528
|
|
|
0.720 |
GeneticVariation |
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 |
|
rs5010528
|
|
|
0.720 |
GeneticVariation |
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 |
|
rs5010528
|
|
G |
0.720 |
GeneticVariation |
GWASCAT |
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 |
|
rs6500265
|
|
|
0.710 |
GeneticVariation |
BEFREE |
AA-related SJS/TEN with SOIs were found to be associated significantly with both rs6500265 [allele frequency: odds ratio (OR): 2.18; 95% confidence interval (CI): 1.30-3.65; P=0.0052; carrier frequency: OR: 2.52; 95% CI: 1.33-4.78; P=0.058] and rs9933632 (allele frequency: OR: 2.28: 95% CI: 1.37-3.79; P=0.0032; carrier frequency: OR: 2.76; 95% CI: 1.46-5.22; P=0.0031).
|
29239905 |
2018 |
|
rs6500265
|
|
T |
0.710 |
GeneticVariation |
GWASCAT |
Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.
|
28100913 |
2017 |
|
rs16957893
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.
|
28100913 |
2017 |
|
rs9888871
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens-Johnson syndrome with severe ocular complications.
|
28100913 |
2017 |
|
rs4917014
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement.
|
25672763 |
2015 |
|
rs2734583
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
A whole-genome association study of major determinants for allopurinol-related Stevens-Johnson syndrome and toxic epidermal necrolysis in Japanese patients.
|
21912425 |
2013 |
|
rs17137412
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of serious blistering skin rash caused by drugs.
|
21221126 |
2012 |
|
rs6016348
|
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of serious blistering skin rash caused by drugs.
|
21221126 |
2012 |
|
rs2844665
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
|
21801394 |
2011 |
|
rs3094188
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
|
21801394 |
2011 |
|
rs3130501
|
|
G |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
|
21801394 |
2011 |
|
rs3130931
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
|
21801394 |
2011 |
|
rs3815087
|
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
|
21801394 |
2011 |
|
rs9469003
|
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.
|
21801394 |
2011 |
|
rs1045485
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The CASP8 rs3834129 DD genotype was associated with decreased risk of TEN (P = 0.020, odds ratio: 0.45, 95% confidence interval: 0.22-0.90) and the CASP8 I-G (rs3834129-rs1045485) inferred allele combination was associated with increased risk of TEN (P = 0.031).
|
27541197 |
2017 |
|
rs28399499
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data show an association between the c.983T>C polymorphism and nevirapine-induced SJS/TEN.
|
25147095 |
2014 |
|
rs28399499
|
|
|
0.020 |
GeneticVariation |
BEFREE |
CYP2B6 G516T and T983C single nucleotide polymorphisms (SNPs) were found to be associated with SJS/TEN susceptibility.
|
23774940 |
2013 |
|
rs1045485
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A total of 358 unaffected control (CON) participants [159 South Africa (SA CON) and 199 Australia (AUS CON)] and 166 affected AT (TEN) participants (87 SA TEN and 79 AUS TEN) were genotyped for four variants [CASP8 (rs384129), CASP8 (rs1045485), NOS3 (rs1799983), and NOS2 (rs2779249)].
|
22588838 |
2012 |
|
rs10181739
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We identified the c.11G > A heterozygous sequence variant in a TEN case, which creates a premature termination codon (PTC) (p.Trp4Ter).
|
31642954 |
2019 |
|
rs9933632
|
|
|
0.010 |
GeneticVariation |
BEFREE |
AA-related SJS/TEN with SOIs were found to be associated significantly with both rs6500265 [allele frequency: odds ratio (OR): 2.18; 95% confidence interval (CI): 1.30-3.65; P=0.0052; carrier frequency: OR: 2.52; 95% CI: 1.33-4.78; P=0.058] and rs9933632 (allele frequency: OR: 2.28: 95% CI: 1.37-3.79; P=0.0032; carrier frequency: OR: 2.76; 95% CI: 1.46-5.22; P=0.0031).
|
29239905 |
2018 |
|
rs3834129
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The CASP8 rs3834129 DD genotype was associated with decreased risk of TEN (P = 0.020, odds ratio: 0.45, 95% confidence interval: 0.22-0.90) and the CASP8 I-G (rs3834129-rs1045485) inferred allele combination was associated with increased risk of TEN (P = 0.031).
|
27541197 |
2017 |
|
rs77375493
|
|
|
0.010 |
GeneticVariation |
BEFREE |
26 (39%) of 66 haematological responders and 25 (71%) of 35 molecular responders (with the JAK2 Val617Phe mutation) have maintained some response during follow-up: 49% maintained their best molecular response (nine of ten patients who had a complete response, five of 20 who had a partial response, and three of five who had a minor response).
|
28291640 |
2017 |