BibTex format
@article{Boos:2024:10.1016/j.xhgg.2024.100323,
author = {Boos, J and van, der Made CI and Ramakrishnan, G and Coughlan, E and Asselta, R and Löscher, B-S and Valenti, LVC and de, Cid R and Bujanda, L and Julià, A and Pairo-Castineira, E and Baillie, JK and May, S and Zametica, B and Heggemann, J and Albillos, A and Banales, JM and Barretina, J and Blay, N and Bonfanti, P and Buti, M and Fernandez, J and Marsal, S and Prati, D and Ronzoni, L and Sacchi, N and Rimoldi, V and Paraboschi, EM and Bandera, A and Peyvandi, F and Grasselli, G and Blasi, F and Malvestiti, F and Pelusi, S and Bianco, C and Miano, L and Lombardi, A and Invernizzi, P and Gerussi, A and Citerio, G and Biondi, A and Valsecchi, MG and Cazzaniga, ME and Foti, G and Beretta, I and D'Angiò, M and Bettini, LR and Farré, X and Iraola-Guzmán, S and Kogevinas, M and Castaño-Vinyals, G and Garcia-Etxebarria, K and Nafria, B and D'Amato, M and Palom, A and Begg, C and Clohisey, S and Hinds, C and Horby, P and Knight, J and Ling, L and Maslove, D and McAuley, D and Millar, J and Mon},
doi = {10.1016/j.xhgg.2024.100323},
journal = {Human Genetics and Genomics Advances},
title = {Stratified analyses refine association between TLR7 rare variants and severe COVID-19},
url = {http://dx.doi.org/10.1016/j.xhgg.2024.100323},
volume = {5},
year = {2024}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - Despite extensive global research into genetic predisposition for severe COVID-19, knowledge on the role of rare host genetic variants and their relation to other risk factors remains limited. Here, 52 genes with prior etiological evidence were sequenced in 1,772 severe COVID-19 cases and 5,347 population-based controls from Spain/Italy. Rare deleterious TLR7 variants were present in 2.4% of young (<60 years) cases with no reported clinical risk factors (n = 378), compared to 0.24% of controls (odds ratio [OR] = 12.3, p = 1.27 × 10−10). Incorporation of the results of either functional assays or protein modeling led to a pronounced increase in effect size (ORmax = 46.5, p = 1.74 × 10−15). Association signals for the X-chromosomal gene TLR7 were also detected in the female-only subgroup, suggesting the existence of additional mechanisms beyond X-linked recessive inheritance in males. Additionally, supporting evidence was generated for a contribution to severe COVID-19 of the previously implicated genes IFNAR2, IFIH1, and TBK1. Our results refine the genetic contribution of rare TLR7 variants to severe COVID-19 and strengthen evidence for the etiological relevance of genes in the interferon signaling pathway.
AU - Boos,J
AU - van,der Made CI
AU - Ramakrishnan,G
AU - Coughlan,E
AU - Asselta,R
AU - Löscher,B-S
AU - Valenti,LVC
AU - de,Cid R
AU - Bujanda,L
AU - Julià,A
AU - Pairo-Castineira,E
AU - Baillie,JK
AU - May,S
AU - Zametica,B
AU - Heggemann,J
AU - Albillos,A
AU - Banales,JM
AU - Barretina,J
AU - Blay,N
AU - Bonfanti,P
AU - Buti,M
AU - Fernandez,J
AU - Marsal,S
AU - Prati,D
AU - Ronzoni,L
AU - Sacchi,N
AU - Rimoldi,V
AU - Paraboschi,EM
AU - Bandera,A
AU - Peyvandi,F
AU - Grasselli,G
AU - Blasi,F
AU - Malvestiti,F
AU - Pelusi,S
AU - Bianco,C
AU - Miano,L
AU - Lombardi,A
AU - Invernizzi,P
AU - Gerussi,A
AU - Citerio,G
AU - Biondi,A
AU - Valsecchi,MG
AU - Cazzaniga,ME
AU - Foti,G
AU - Beretta,I
AU - D'Angiò,M
AU - Bettini,LR
AU - Farré,X
AU - Iraola-Guzmán,S
AU - Kogevinas,M
AU - Castaño-Vinyals,G
AU - Garcia-Etxebarria,K
AU - Nafria,B
AU - D'Amato,M
AU - Palom,A
AU - Begg,C
AU - Clohisey,S
AU - Hinds,C
AU - Horby,P
AU - Knight,J
AU - Ling,L
AU - Maslove,D
AU - McAuley,D
AU - Millar,J
AU - Montgomery,H
AU - Nichol,A
AU - Openshaw,PJM
AU - Pereira,AC
AU - Ponting,CP
AU - Rowan,K
AU - Semple,MG
AU - Shankar-Hari,M
AU - Summers,C
AU - Walsh,T
AU - Baillie,JK
AU - Aravindan,L
AU - Armstrong,R
AU - Biggs,H
AU - Boz,C
AU - Brown,A
AU - Clark,R
AU - Clohisey,S
AU - Coutts,A
AU - Coyle,J
AU - Cullum,L
AU - Das,S
AU - Day,N
AU - Donnelly,L
AU - Duncan,E
AU - Fawkes,A
AU - Fineran,P
AU - Fourman,MH
AU - Furlong,A
AU - Furniss,J
AU - Gallagher,B
AU - Gilchrist,T
AU - Golightly,A
AU - Griffiths,F
AU - Hafezi,K
AU - Hamilton,D
AU - Hendry,R
AU - Law,A
AU - Law,D
AU - Law,R
AU - Law,S
AU - Lidstone-Scott,R
AU - Macgillivray,L
AU - Maclean,A
AU - Mal,H
AU - McCafferty,S
AU - Mcmaster,E
AU - Meikle,J
AU - Moore,SC
AU - Morrice,K
AU - Murphy,L
AU - Murphy,S
AU - Hellen,M
AU - Oosthuyzen,W
AU - Zheng,C
AU - Chen,J
AU - Parkinson,N
AU - Paterson,T
AU - Schon,K
AU - Stenhouse,A
AU - Das,M
AU - Swets,M
AU - Szoor-McElhinney,H
AU - Taneski,F
AU - Turtle,L
AU - Wackett,T
AU - Ward,M
AU - Weaver,J
AU - Wrobel,N
AU - Zechner,M
AU - Hellen,M
AU - Arbane,G
AU - Bociek,A
AU - Campos,S
AU - Grau,N
AU - Jones,TO
AU - Lim,R
AU - Marotti,M
AU - Ostermann,M
AU - Shankar-Hari,M
AU - Whitton,C
AU - Alldis,Z
AU - Astin-Chamberlain,R
AU - Bibi,F
AU - Biddle,J
AU - Blow,S
AU - Bolton,M
AU - Borra,C
AU - Bowles,R
AU - Burton,M
AU - Choudhury,Y
AU - Collier,D
AU - Cox,A
AU - Easthope,A
AU - Ebano,P
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AU - Gurasashvili,J
AU - Halls,R
AU - Hartridge,P
AU - Kallon,D
AU - Kassam,J
AU - Lancoma-Malcolm,I
AU - Matharu,M
AU - May,P
AU - Mitchelmore,O
AU - Newman,T
AU - Patel,M
AU - Pheby,J
AU - Pinzuti,I
AU - Prime,Z
AU - Prysyazhna,O
AU - Shiel,J
AU - Taylor,M
AU - Tierney,C
AU - Wood,S
AU - Zak,A
AU - Zongo,O
DO - 10.1016/j.xhgg.2024.100323
PY - 2024///
SN - 2666-2477
TI - Stratified analyses refine association between TLR7 rare variants and severe COVID-19
T2 - Human Genetics and Genomics Advances
UR - http://dx.doi.org/10.1016/j.xhgg.2024.100323
VL - 5
ER -
