Imperial College London


Faculty of MedicineDepartment of Brain Sciences

Professor of Neurology and Genomic Medicine



m.johnson Website




E419Burlington DanesHammersmith Campus






BibTex format

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 Stefansson, K and Krause, R and Shear, N and Ross, CJD and Delanty, N and Pirmohamed, M and Carleton, BC and Cendes, F and Lopes-Cendes, I and Liao, W-P and O'Brien, TJ and Sisodiya, SM and Cherny, S and Kwan, P and Baum, L and Cavalleri, GL},
doi = {10.1212/WNL.0000000000004853},
journal = {NEUROLOGY},
pages = {E332--E341},
title = {Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients},
url = {},
volume = {90},
year = {2017}

RIS format (EndNote, RefMan)

AB - 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 × 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-A31:01 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.
AU - McCormack,M
AU - Gui,H
AU - Ingason,A
AU - Speed,D
AU - Wright,GEB
AU - Zhang,EJ
AU - Secolin,R
AU - Yasuda,C
AU - Kwok,M
AU - Wolking,S
AU - Becker,F
AU - Rau,S
AU - Avbersek,A
AU - Heggeli,K
AU - Leu,C
AU - Depondt,C
AU - Sills,GJ
AU - Marson,AG
AU - Auce,P
AU - Brodie,MJ
AU - Francis,B
AU - Johnson,MR
AU - Koeleman,BPC
AU - Striano,P
AU - Coppola,A
AU - Zara,F
AU - Kunz,WS
AU - Sander,JW
AU - Lerche,H
AU - Klein,KM
AU - Weckhuysen,S
AU - Krenn,M
AU - Gudmundsson,LJ
AU - Stefansson,K
AU - Krause,R
AU - Shear,N
AU - Ross,CJD
AU - Delanty,N
AU - Pirmohamed,M
AU - Carleton,BC
AU - Cendes,F
AU - Lopes-Cendes,I
AU - Liao,W-P
AU - O'Brien,TJ
AU - Sisodiya,SM
AU - Cherny,S
AU - Kwan,P
AU - Baum,L
AU - Cavalleri,GL
DO - 10.1212/WNL.0000000000004853
EP - 341
PY - 2017///
SN - 0028-3878
SP - 332
TI - Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients
UR -
UR -
UR -
VL - 90
ER -