@article{discovery10041504,
         journal = {Neurology},
           title = {Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients},
           pages = {e332--e341},
            note = {Copyright {\copyright} 2017 The Author(s). This is an open access article distributed under the terms of the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.},
          volume = {90},
          number = {4},
            year = {2018},
           month = {January},
          author = {McCormack, M and Gui, H and Ingason, A and Speed, D and Wright, GEB and Zhang, EJ and Secolin, R and Yasuda, C and Kwok, M and Wolking, S and Becker, F and Rau, S and Avbersek, A and Heggeli, K and Leu, C and Depondt, C and Sills, GJ and Marson, AG and Auce, P and Brodie, MJ and Francis, B and Johnson, MR and Koeleman, BPC and Striano, P and Coppola, A and Zara, F and Kunz, WS and Sander, JW and Lerche, H and Klein, KM and Weckhuysen, S and Krenn, M and Gudmundsson, LJ and Stef{\'a}nsson, K and Krause, R and Shear, N and Ross, CJD and Delanty, N and EPIGEN Consortium, . and Pirmohamed, M and Carleton, BC and Canadian Pharmacogenomics Network for Drug Safety, . and Cendes, F and Lopes-Cendes, I and Liao, W-P and O'Brien, TJ and Sisodiya, SM and EpiPGX Consortium, . and Cherny, S and Kwan, P and Baum, L and ILAE-CGC, . and Cavalleri, GL},
        abstract = {OBJECTIVE: To characterize, among European and Han Chinese populations, the genetic predictors of maculopapular exanthema (MPE), a cutaneous adverse drug reaction common to antiepileptic drugs. METHODS: 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. RESULTS: 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 {$\times$} 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. 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.},
            issn = {1526-632X},
             url = {https://doi.org/10.1212/WNL.0000000000004853}
}