RT期刊文章SR电子T1遗传变异CFH欧洲裔患者预测phenytoin-induced斑丘疹的猝发摩根富林明神经病学神经学乔FD Lippincott Williams &威尔金斯SP e332 OP e首页341 10.1212 / WNL。90签证官0000000000004853是4 A1马克麦科马克A1鸿盛Gui A1 Andres Ingason A1 Doug速度A1盖伦E.B.怀特A1尤妮斯·j·张A1罗德里戈Secolin A1克拉丽莎Yasuda A1麦克斯韦郭A1 Stefan沃克A1菲利斯塔斯贝克A1莎拉·劳A1 Andreja Avbersek A1 Kristin Heggeli A1损失低浓缩铀A1尚塔尔Depondt A1格雷姆·j·西尔斯A1安东尼·g·马森A1保罗Auce A1马丁·j·布罗迪A1本弗朗西斯A1迈克尔·r·约翰逊A1鲍比pc Koeleman A1 Pasquale Striano A1 Antonietta科波拉A1费德里科•Zara A1 Wolfram s Kunz A1 Josemir w·桑德A1 Holger莱赫奇A1卡尔·马丁·克莱因A1莎拉Weckhuysen A1马丁Krenn A1 Larus j . Gudmundsson A1 Kari Stefansson A1罗兰·克劳斯A1尼尔剪切A1科林J.D.罗斯A1诺曼Delanty A1 EPIGEN财团;Munir Pirmohamed A1 A1布鲁斯·c·卡尔顿A1加拿大药物基因组学的网络药品安全;A1费尔南多Cendes A1 Iscia Lopes-Cendes A1 Wei-ping廖A1特伦斯j . O ' brien A1桑杰·m·Sisodiya A1 EpiPGX财团;A1斯泰西Cherny A1帕特里克关颖珊A1拉里·鲍姆A1为国际抗癫痫联盟财团在复杂;A1 Gianpiero l . Cavalleri年2018 UL http://n.ne首页urology.org/content/90/4/e332.abstract AB客观描述,在欧洲和汉族人群的基因预测斑丘疹的疹(MPE),皮肤的药物不良反应常见的抗癫痫药物。方法我们进行了一项病例对照常染色体基因的全基因组关联研究,包括I和II类人类白细胞抗原(HLA)等位基因,在323例和1321年drug-tolerant控制癫痫群北欧和汉族血统。结果从每个队列meta-analyzed。结果我们报告补充的一种罕见的变异之间的联系因素H-related 4 (CFHR4)基因和phenytoin-induced MPE的欧洲人(p = 4.5×10 - 11;比值比(95%置信区间)7 (-16 - 3.2))。这个变体与错义变体完全连锁不平衡(N1050Y)补体因子H (CFH)基因。 In addition, our results reinforce the association between HLA-A*31:01 and carbamazepine hypersensitivity. We did not identify significant genetic associations with MPE among Han Chinese patients.Conclusions The identification of genetic predictors of MPE in CFHR4 and CFH, members of the complement factor H–related protein family, suggest a new link between regulation of the complement system alternative pathway and phenytoin-induced hypersensitivity in European-ancestral patients.ADR=adverse drug reaction; AED=antiepileptic drug; cADR=cutaneous adverse drug reaction; CFH=complement factor H; CFHR4=complement factor H–related 4 gene; CI=confidence interval; CPNDS=Canadian Pharmacogenomics Network for Drug Safety; GWAS=genome-wide association study; HLA=human leukocyte antigen; ILAE-CGC=International League Against Epilepsy Complex Genetics Consortium; MPE=maculopapular exanthema; OR=odds ratio; SJS/TEN=Stevens-Johnson syndrome and toxic epidermal necrolysis; SNP=single nucleotide polymorphism