在西班牙和汉族人群中，非甾体抗炎药诱导的急性荨麻疹/血管性水肿的全基因组关联研究。
Genome-wide association study in NSAID-induced acute urticaria/angioedema in Spanish and Han Chinese populations.
机构信息
Research Laboratory, UGC Allergy, Málaga General Hospital, Málaga, Spain.
出版信息
Pharmacogenomics. 2013 Nov;14(15):1857-69. doi: 10.2217/pgs.13.166.
AIM
Acute urticaria/angioedema (AUA) induced by cross-intolerance to NSAIDs is the most frequent clinical entity in hypersensitivity reactions to drugs. In this work, we conducted a genome-wide association study in Spanish and Han Chinese patients suffering from NSAID-induced AUA.
MATERIALS & METHODS: A whole-genome scan was performed on a total of 232 cases (112 Spanish and 120 Han Chinese) with NSAID-induced AUA and 225 unrelated controls (124 Spanish and 101 Han Chinese).
RESULTS
Although no polymorphism reached genome-wide significance, we obtained suggestive associations for three clusters in the Spanish group (RIMS1, BICC1 and RAD51L 1) and one region in the Han Chinese population (ABI3BP). Five regions showed suggestive associations after meta-analysis: HLF, RAD51L1, COL24A1, GalNAc-T13 and FBXL7. A majority of these genes are related to Ca(2+), cAMP and/or P53 signaling pathways.
CONCLUSION
The associations described were different from those related to the metabolism of arachidonic acid and could provide new mechanisms underlying NSAID-induced AUA.
目的
由 NSAIDs 交叉不耐受引起的急性荨麻疹/血管性水肿（AUA）是药物超敏反应中最常见的临床实体。在这项工作中，我们对西班牙和汉族患者的 NSAID 诱导的 AUA 进行了全基因组关联研究。
材料与方法
对总共 232 例（112 例西班牙人和 120 例汉族人）与 NSAID 诱导的 AUA 相关的病例和 225 例无关对照（124 例西班牙人和 101 例汉族人）进行了全基因组扫描。
结果
尽管没有一个多态性达到全基因组显著水平，但我们在西班牙组中获得了三个簇（RIMS1、BICC1 和 RAD51L1）和一个汉族人群（ABI3BP）的一个区域的提示性关联。荟萃分析后有五个区域显示出提示性关联：HLF、RAD51L1、COL24A1、GalNAc-T13 和 FBXL7。这些基因中的大多数与 Ca（2+）、cAMP 和/或 P53 信号通路有关。
结论
描述的关联与花生四烯酸代谢无关，可能为 NSAID 诱导的 AUA 提供新的机制。
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