Imperial College London
Portrait Picture

DrStephanieMenikou

Faculty of Medicine, Department of Infectious Disease

Research Associate
 
 
 
//

Contact

 

s.menikou

 
 
//

Location

 

246Medical SchoolSt Mary's Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Hoggart:2021:10.1038/s41431-021-00838-5,
author = {Hoggart, C and Shimizu, C and Galassini, R and Wright, VJ and Shailes, H and Bellos, E and Herberg, JA and Pollard, AJ and O'Connor, D and Choi, SW and Seaby, EG and Menikou, S and Hibberd, M and Sallah, N and Burgner, D and Brogan, P and Patel, H and Kim, J and Tremoulet, AH and Salo, E and van, Stijn D and Kuijpers, T and Burns, JC and Levin, M},
doi = {10.1038/s41431-021-00838-5},
journal = {European Journal of Human Genetics},
pages = {1734--1744},
title = {Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease},
url = {http://dx.doi.org/10.1038/s41431-021-00838-5},
volume = {29},
year = {2021}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Kawasaki disease (KD) is a paediatric vasculitis associated with coronary artery aneurysms (CAA). Genetic variants influencing susceptibility to KD have been previously identified, but no risk alleles have been validated that influence CAA formation. We conducted a genome-wide association study (GWAS) for CAA in KD patients of European descent with 200 cases and 276 controls. A second GWAS for susceptibility pooled KD cases with healthy paediatric controls from vaccine trials in the UK (n = 1609). Logistic regression mixed models were used for both GWASs. The susceptibility GWAS was meta-analysed with 400 KD cases and 6101 controls from a previous European GWAS, these results were further meta-analysed with Japanese GWASs at two putative loci. The CAA GWAS identified an intergenic region of chromosome 20q13 with multiple SNVs showing genome-wide significance. The risk allele of the most associated SNV (rs6017006) was present in 13% of cases and 4% of controls; in East Asian 1000 Genomes data, the allele was absent or rare. Susceptibility GWAS with meta-analysis with previously published European data identified two previously associated loci (ITPKC and FCGR2A). Further meta-analysis with Japanese GWAS summary data from the CASP3 and FAM167A genomic regions validated these loci in Europeans showing consistent effects of the top SNVs in both populations. We identified a novel locus for CAA in KD patients of European descent. The results suggest that different genes determine susceptibility to KD and development of CAA and future work should focus on the function of the intergenic region on chromosome 20q13.
AU  - Hoggart,C
AU  - Shimizu,C
AU  - Galassini,R
AU  - Wright,VJ
AU  - Shailes,H
AU  - Bellos,E
AU  - Herberg,JA
AU  - Pollard,AJ
AU  - O'Connor,D
AU  - Choi,SW
AU  - Seaby,EG
AU  - Menikou,S
AU  - Hibberd,M
AU  - Sallah,N
AU  - Burgner,D
AU  - Brogan,P
AU  - Patel,H
AU  - Kim,J
AU  - Tremoulet,AH
AU  - Salo,E
AU  - van,Stijn D
AU  - Kuijpers,T
AU  - Burns,JC
AU  - Levin,M
DO  - 10.1038/s41431-021-00838-5
EP  - 1744
PY  - 2021///
SN  - 1018-4813
SP  - 1734
TI  - Identification of novel locus associated with coronary artery aneurysms and validation of loci for susceptibility to Kawasaki disease
T2  - European Journal of Human Genetics
UR  - http://dx.doi.org/10.1038/s41431-021-00838-5
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000633270600002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.nature.com/articles/s41431-021-00838-5
UR  - http://hdl.handle.net/10044/1/88213
VL  - 29
ER  -
Download