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Publication Detail
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N, EPIGEN Consortium; , Pirmohamed M, Carleton BC, Canadian Pharmacogenomics Network for Drug Safety; , Cendes F, Lopes-Cendes I, Liao W-P, O'Brien TJ, Sisodiya SM, EpiPGX Consortium; , Cherny S, Kwan P, Baum L, International League Against Epilepsy Consortium on Complex Epilepsies; , Cavalleri GL
  • Publication date:
    29/12/2017
  • Journal:
    Neurology
  • Medium:
    Print-Electronic
  • Status:
    Published
  • Print ISSN:
    0028-3878
  • Language:
    eng
  • Keywords:
    EPIGEN Consortium;, Canadian Pharmacogenomics Network for Drug Safety;, EpiPGX Consortium;, International League Against Epilepsy Consortium on Complex Epilepsies;
  • Addresses:
    Author affiliations are provided at the end of the article.
Abstract
To characterize, among European and Han Chinese populations, the genetic predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common to antiepileptic drugs.We conducted a case-control genome-wide association study of autosomal genotypes, including Class I and II human leukocyte antigen (HLA) alleles, in 323 cases and 1,321 drug-tolerant controls from epilepsy cohorts of northern European and Han Chinese descent. Results from each cohort were meta-analyzed.We report an association between a rare variant in the complement factor H-related 4 (CFHR4) gene and phenytoin-induced MPE in Europeans (p = 4.5 × 10-11; odds ratio [95% confidence interval] 7 [3.2-16]). This variant is in complete linkage disequilibrium with a missense variant (N1050Y) in the complement factor H (CFH) gene. 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.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.
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Clinical & Experimental Epilepsy
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Clinical & Experimental Epilepsy
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Genetics, Evolution & Environment
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