例如:"lncRNA", "apoptosis", "WRKY"

Copy number variation in ALOX5 and PTGER1 is associated with NSAIDs-induced urticaria and/or angioedema.

Pharmacogenet. Genomics. 2016 Jun;26(6):280-7. doi:10.1097/FPC.0000000000000216
María Del Carmen Plaza-Serón 1 , Pedro Ayuso , Natalia Pérez-Sánchez , Inmaculada Doña , Natalia Blanca-Lopez , Carlos Flores , Luisa Galindo , Ana Molina , James R Perkins , Jose A Cornejo-García , Jose A Agúndez , Elena García-Martín , Paloma Campo , Gabriela Canto , Miguel Blanca
María Del Carmen Plaza-Serón 1 , Pedro Ayuso , Natalia Pérez-Sánchez , Inmaculada Doña , Natalia Blanca-Lopez , Carlos Flores , Luisa Galindo , Ana Molina , James R Perkins , Jose A Cornejo-García , Jose A Agúndez , Elena García-Martín , Paloma Campo , Gabriela Canto , Miguel Blanca
+ et al

[No authors listed]

Author information
  • 1 aAllergy service, Infanta Leonor Hospital bResearch Unit and Biomedical Research Center in Respiratory Diseases, Carlos III Health Institute, Tenerife cAllergy Unit dResearch Laboratory, IBIMA, Regional University Hospital of Malaga, UMA, Malaga Departments of ePharmacology fBiochemistry and Molecular Biology, University of Extremadura, Cáceres, Spain gINSERM U-954, University of Lorraine and University Hospital Center (CHU) of Nancy, Nancy, France.

摘要


OBJECTIVE:Cross-intolerance to NSAIDs is a class of drug hypersensitivity reaction, of which NSAIDs-induced urticaria and/or angioedema (NIUA) are the most frequent clinical entities. They are considered to involve dysregulation of the arachidonic acid pathway; however, this mechanism has not been confirmed for NIUA. In this work, we assessed copy number variations (CNVs) in eight of the main genes involved in the arachidonic acid pathway and their possible genetic association with NIUA. MATERIALS AND METHODS:CNVs in ALOX5, LTC4S, PTGS1, PTGS2, PTGER1, PTGER2, PTGER3, and PTGER4 were analyzed using TaqMan copy number assays. Genotyping was carried out by real-time quantitative PCR. Individual genotypes were assigned using the CopyCaller Software. Statistical analysis was carried out using GraphPad prism 5, PLINK, EPIDAT, and R version 3.1.2. RESULTS AND CONCLUSION:A total of 151 cases and 139 controls were analyzed during the discovery phase and 148 cases and 140 controls were used for replication. CNVs in open reading frames were found for ALOX5, PTGER1, PTGER3, and PTGER4. Statistically significant differences in the CNV frequency between NIUA and controls were found for ALOX5 (Pc=0.017) and PTGER1 (Pc=1.22E-04). This study represents the first analysis showing an association between CNVs in exonic regions of ALOX5 and PTGER1 and NIUA. This suggests a role of CNVs in this pathology that should be explored further.