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@article{Williams:2023:10.12688/wellcomeopenres.17230.2,
author = {Williams, AT and Shrine, N and Naghra-van, Gijzel H and Betts, JC and Chen, J and Hessel, EM and John, C and Packer, R and Reeve, NF and Yeo, AJ and Abner, E and Åsvold, BO and Auvinen, J and Bartz, TM and Bradford, Y and Brumpton, B and Campbell, A and Cho, MH and Chu, S and Crosslin, DR and Feng, Q and Esko, T and Gharib, SA and Hayward, C and Hebbring, S and Hveem, K and Järvelin, M-R and Jarvik, GP and Landis, SH and Larson, EB and Liu, J and Loos, RJF and Luo, Y and Moscati, A and Mullerova, H and Namjou, B and Porteous, DJ and Quint, JK and Ritchie, MD and Sliz, E and Stanaway, IB and Thomas, L and Wilson, JF and Hall, IP and Wain, LV and Michalovich, D and Tobin, MD},
doi = {10.12688/wellcomeopenres.17230.2},
journal = {Wellcome Open Research},
pages = {290--290},
title = {Genome-wide association study of susceptibility to hospitalised respiratory infections},
url = {http://dx.doi.org/10.12688/wellcomeopenres.17230.2},
volume = {6},
year = {2023}
}

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TY  - JOUR
AB  - <ns3:p><ns3:bold>Background</ns3:bold>: Globally, respiratory infections contribute to significant morbidity and mortality. However, genetic determinants of respiratory infections are understudied and remain poorly understood.</ns3:p><ns3:p> <ns3:bold>Methods</ns3:bold>: We conducted a genome-wide association study in 19,459 hospitalised respiratory infection cases and 101,438 controls from UK Biobank (Stage 1). We followed-up well-imputed top signals from our Stage 1 analysis in 50,912 respiratory infection cases and 150,442 controls from 11 cohorts (Stage 2). We aggregated effect estimates across studies using inverse variance-weighted meta-analyses. Additionally, we investigated the function of the top signals in order to gain understanding of the underlying biological mechanisms.</ns3:p><ns3:p> <ns3:bold>Results</ns3:bold>: From our Stage 1 analysis, we report 56 signals at <ns3:italic>P</ns3:italic><5 <ns3:italic>×</ns3:italic>10 <ns3:sup>-6</ns3:sup>, one of which was genome-wide significant ( <ns3:italic>P</ns3:italic><5 <ns3:italic>×</ns3:italic>10 <ns3:sup>-8</ns3:sup>). The genome-wide significant signal was in an intron of <ns3:italic>PBX3</ns3:italic>, a gene that encodes pre-B-cell leukaemia transcription factor 3, a homeodomain-containing transcription factor. Further, the genome-wide significant signal was found to colocalise with gene-specific expression quantitative trait loci (eQTLs) affecting expression of <ns3:italic>PBX3</ns3:italic> in lung tissue, where the respiratory infection risk alleles were associated with decreased <ns3:italic>PBX3</ns3:italic> expression in lung tissue, highlighting a possible biological mechanism. Of the 56 signals, 40 were well-imputed in UK Biobank and were investigated in Stage 2. None of the 40 signals replicated, wit
AU  - Williams,AT
AU  - Shrine,N
AU  - Naghra-van,Gijzel H
AU  - Betts,JC
AU  - Chen,J
AU  - Hessel,EM
AU  - John,C
AU  - Packer,R
AU  - Reeve,NF
AU  - Yeo,AJ
AU  - Abner,E
AU  - Åsvold,BO
AU  - Auvinen,J
AU  - Bartz,TM
AU  - Bradford,Y
AU  - Brumpton,B
AU  - Campbell,A
AU  - Cho,MH
AU  - Chu,S
AU  - Crosslin,DR
AU  - Feng,Q
AU  - Esko,T
AU  - Gharib,SA
AU  - Hayward,C
AU  - Hebbring,S
AU  - Hveem,K
AU  - Järvelin,M-R
AU  - Jarvik,GP
AU  - Landis,SH
AU  - Larson,EB
AU  - Liu,J
AU  - Loos,RJF
AU  - Luo,Y
AU  - Moscati,A
AU  - Mullerova,H
AU  - Namjou,B
AU  - Porteous,DJ
AU  - Quint,JK
AU  - Ritchie,MD
AU  - Sliz,E
AU  - Stanaway,IB
AU  - Thomas,L
AU  - Wilson,JF
AU  - Hall,IP
AU  - Wain,LV
AU  - Michalovich,D
AU  - Tobin,MD
DO  - 10.12688/wellcomeopenres.17230.2
EP  - 290
PY  - 2023///
SP  - 290
TI  - Genome-wide association study of susceptibility to hospitalised respiratory infections
T2  - Wellcome Open Research
UR  - http://dx.doi.org/10.12688/wellcomeopenres.17230.2
VL  - 6
ER  -

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