Imperial College London

DrVictoriaWright

Faculty of MedicineDepartment of Infectious Disease

Research Fellow
 
 
 
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Contact

 

+44 (0)20 7594 3577v.wright

 
 
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Location

 

PaediatricsMedical SchoolSt Mary's Campus

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Summary

 

Publications

Citation

BibTex format

@article{Shimizu:2019:10.1016/j.humimm.2019.04.020,
author = {Shimizu, C and Kim, J and Eleftherohorinou, H and Wright, VJ and Hoang, LT and Tremoulet, AH and Franco, A and Hibberd, ML and Takahashi, A and Kubo, M and Ito, K and Tanaka, T and Onouchi, Y and Coin, LJM and Levin, M and Burns, JC and Shike, H and International, Kawasaki Disease Genetic Consortium},
doi = {10.1016/j.humimm.2019.04.020},
journal = {Human Immunology},
pages = {731--738},
title = {HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease},
url = {http://dx.doi.org/10.1016/j.humimm.2019.04.020},
volume = {80},
year = {2019}
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Kawasaki disease (KD) is a pediatric vasculitis caused by an unknown trigger in genetically susceptible children. The incidence varies widely across genetically diverse populations. Several associations with HLA Class I alleles have been reported in single cohort studies. Using a genetic approach, from the nine single nucleotide variants (SNVs) associated with KD susceptibility in children of European descent, we identified SNVs near the HLA-C (rs6906846) and HLA-B genes (rs2254556) whose association was replicated in a Japanese descent cohort (rs6906846 p=0.01, rs2254556 p=0.005). The risk allele (A at rs6906846) was also associated with HLA-C07:02 and HLA-C04:01 in both US multi-ethnic and Japanese cohorts and HLA-C12:02 only in the Japanese cohort. The risk A-allele was associated with eight non-conservative amino acid substitutions (amino acid positions); Asp or Ser (9), Arg (14), Ala (49), Ala (73), Ala (90), Arg (97), Phe or Ser (99), and Phe or Ser (116) in the HLA-C peptide binding groove that binds peptides for presentation to cytotoxic T cells (CTL). This raises the possibility of increased affinity to a "KD peptide" that contributes to the vasculitis of KD in genetically susceptible children.
AU - Shimizu,C
AU - Kim,J
AU - Eleftherohorinou,H
AU - Wright,VJ
AU - Hoang,LT
AU - Tremoulet,AH
AU - Franco,A
AU - Hibberd,ML
AU - Takahashi,A
AU - Kubo,M
AU - Ito,K
AU - Tanaka,T
AU - Onouchi,Y
AU - Coin,LJM
AU - Levin,M
AU - Burns,JC
AU - Shike,H
AU - International,Kawasaki Disease Genetic Consortium
DO - 10.1016/j.humimm.2019.04.020
EP - 738
PY - 2019///
SN - 0198-8859
SP - 731
TI - HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease
T2 - Human Immunology
UR - http://dx.doi.org/10.1016/j.humimm.2019.04.020
UR - https://www.ncbi.nlm.nih.gov/pubmed/31122742
UR - https://www.sciencedirect.com/science/article/pii/S0198885918310164?via%3Dihub
UR - http://hdl.handle.net/10044/1/70512
VL - 80
ER -