Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs

Vidal, Carmen; Porras-Hurtado, Liliana; Cruz, Raquel; Quiralte, Joaquín; Cardona, Victòria; Colás, Carlos; Castillo-León, Luisa Fernanda; Marcos, Carmen; Soto, Teresa; Lopez-Abad, Raquel; Hernández, Dolores; Audícana, M.; Armisén, Margarita; Rodríguez, Virginia; Perez‐Carral, Celsa; Moreno, Esther; Cabañes, Rosario; Corominas, M.; Parra, Antonio; Lobera, T; Quiñones, Dolores; Ojeda, Pedro; Luna, Ildefonso; Torres, M.; Carracedo, Ángel

doi:10.1016/j.jaci.2013.04.045

Cited by 23 publications

(28 citation statements)

References 8 publications

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“…We found that the rs1132340 SNP in ALOX5 activating protein was associated with NIUA [88], an association that was not found in NERD patients in Korea [84]. In another Spanish study, no association was found with the ALOX5 rs4948672 SNP in NIUA patients [91]. As for ALOX15, we found a statistically significant association between the promoter variant -272C>A (rs7220870) and NIUA in 2 independent populations from Spain [88], although this association was not found in Korean patients [92].…”

Section: Enzyme and Receptor Genes From The Arachidonic Acid Metabolimentioning

confidence: 51%

“…Another Spanish study found an association between the rs6962291 variant in thromboxane A synthase 1 (TBXAS1) and NIUA [91]. Interestingly, this polymorphism was protective in Korean NERD patients [93].…”

Section: Enzyme and Receptor Genes From The Arachidonic Acid Metabolimentioning

confidence: 96%

“…The TBXA2 receptor (TBXA2R) variant -4684T>C was recently shown to be associated with NIUA when compared with healthy individuals but not with NECD in Korea [105], whereas other TXBA2R SNPs were not associated with NIUA in Spanish patients [91]. Finally, the MAF of the 795T>C TBXA2R variant has also been found to be higher in NERD than in ASA-tolerant asthmatics [106].…”

Section: Enzyme and Receptor Genes From The Arachidonic Acid Metabolimentioning

confidence: 99%

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Update on the Genetic Basis of Drug Hypersensitivity Reactions

Jurado‐Escobar¹,

Perkins²,

García‐Martín³

et al. 2017

J Investig Allergol Clin Immunol

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Drug hypersensitivity reactions (DHRs) are unpredictable, complex responses to medicines in predisposed individuals. They represent a major health problem owing to the number of patients affected and the severity of the clinical conditions they can induce. In addition to environmental factors, the underlying mechanisms of DHRs are also influenced by genetic factors, although considerable gaps remain in our knowledge. Therefore, further study of the genetics of DHRs is necessary to shed light on their underlying mechanisms. In this manuscript, we provide an update on the genetic basis of the most frequent types of DHRs, including those mediated by immunological and nonimmunological mechanisms. For the first group, we will focus on immediate reactions to β-lactam antibiotics, which are associated mainly with the IgE pathway (IL13, IL4R, LGALS3, and NOD2) and antigen presentation (HLA-DRA), and nonimmediate reactions to allopurinol, anticonvulsants, antibiotics, and antiretrovirals, which are often associated with polymorphisms in the HLA system. For the second group, we will focus on nonsteroidal anti-inflammatory drugs, which are mostly associated with genetic variants in enzymes and receptors from the arachidonic acid pathway (eg, ALOX5, ALOX5AP, PTGDR, and CYSLTR1). The information provided here will be of interest for medical practitioners from a range of disciplines who come across these reactions in their clinical practice, as well as for allergologists. Key words: Drug hypersensitivity. Immunologically-mediated reactions. Cross-hypersensitivity. Single-nucleotide polymorphisms. Genomewide association study. ResumenLas reacciones de hipersensibilidad a fármacos (RHFs) son respuestas no predecibles que se producen en algunos sujetos y que representan un serio problema de salud pública debido al número de pacientes implicados y a su potencial gravedad. Además de factores ambientales, en estas reacciones también participan factores genéticos, cuya influencia está, en la mayoría de los casos, aún por dilucidar. En este manuscrito describiremos la información disponible sobre la base genética de los tipos más frecuentes de RHFs, tanto de las mediadas inmunológicamente como de aquellas en las que no se requiere reconocimiento antigénico. En el primer grupo nos ocuparemos de las reacciones inmediatas a antibióticos β-lactámicos, que han sido asociadas con variantes relacionadas con la IgE (IL13, IL4R, LGALS3 y NOD2) y la presentación antigénica (HLA-DRA), y de las reacciones no inmediatas a diferentes grupos de medicamentos (alopurinol, anticonvulsivos, antibióticos y antiretrovirales), relacionadas fundamentalmente con polimorfismos en el sistema HLA. En el segundo grupo nos centraremos en las reacciones inducidas por antiinflamatorios no esteroideos (AINE), que han sido asociadas básicamente con variantes en enzimas y receptores de la vía del ácido araquidónico (ALOX5, ALOX5AP, PTGDR y CYSLTR1, entre otros). Esta revisión puede ser de interés no sólo para alergólogos, sino para los profesionales de otras ...

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Section: Enzyme and Receptor Genes From The Arachidonic Acid Metabolimentioning

confidence: 51%

Section: Enzyme and Receptor Genes From The Arachidonic Acid Metabolimentioning

confidence: 96%

Section: Enzyme and Receptor Genes From The Arachidonic Acid Metabolimentioning

confidence: 99%

See 1 more Smart Citation

Update on the Genetic Basis of Drug Hypersensitivity Reactions

Jurado‐Escobar¹,

Perkins²,

García‐Martín³

et al. 2017

J Investig Allergol Clin Immunol

View full text Add to dashboard Cite

show abstract

“…A GWAS in children with acute lymphoblastic leukemia (ALL) found an association of GRIA1, a gene encoding the glutamate receptor AMPA1 with the risk of allergy to asparaginase (49). The GRIA1 gene is on chromosome 5q33, a region previously associated with asthma and atopy (55,56).…”

Section: Genetic Predictors Of Immediate-type Hypersensitivity To Othmentioning

confidence: 99%

“…The MHC-encoded susceptibility genes Between 1999 and 2014, eight studies, mainly from Spain, evaluated potential genetic predictors in association with NAR to NSAIDs (43)(44)(45)(46)(47)(48)(49)(50). The first report by Quiralte et al evaluated .…”

Section: Genetic Predictors Of Nar: the Examples Of Nonspecific Reactmentioning

confidence: 99%

Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review

Oussalah

Mayorga

Blanca

et al. 2016

Allergy

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Drug hypersensitivity includes allergic (AR) and nonallergic reactions (NARs) influenced by genetic predisposition. We performed a systematic review of genetic predictors of IgE-mediated AR and NAR with MEDLINE and PubMed search engine between January 1966 and December 2014. Among 3110 citations, the search selected 53 studies, 42 of which remained eligible. These eligible studies have evaluated genetic determinants of immediate reactions (IR) to beta-lactams (n = 19), NAR against aspirin (n = 12) and other nonsteroidal anti-inflammatory drugs (NSAIDs) (n = 8), and IR to biologics (n = 3). We reported two genomewide association studies and four case-control studies on candidate genes validated by replication. Genes involved in IR to beta-lactams belonged to HLA type 2 antigen processing, IgE production, atopy, and inflammation, including 4 genes validated by replications, HLA-DRA, ILR4, NOD2, and LGALS3. Genes involved in NAR to aspirin belonged to arachidonic acid pathway, membranespanning 4A gene family, histamine production pathway, and pro-inflammatory cytokines, while those involved in NAR to all NSAIDs belonged to arachidonic acid pathway and HLA antigen processing pathway. ALOX5 was a common predictor of studies on NAR to both aspirin and NSAIDs. Although these first conclusions could be drawn, this review highlights also the lack of reliable data and the need for replicating studies in contrasted populations, taking into account worldwide allele frequencies, gene-gene interactions, and contrasted situations of environmental exposure.Allergy 71 (2016) 443-462

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Human Cytochrome P450 Enzymes

Guengerich

2015

Cytochrome P450

137

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Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs

Cited by 23 publications

References 8 publications

Update on the Genetic Basis of Drug Hypersensitivity Reactions

Update on the Genetic Basis of Drug Hypersensitivity Reactions

Genetic variants associated with drugs-induced immediate hypersensitivity reactions: a PRISMA-compliant systematic review

Human Cytochrome P450 Enzymes

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