BibTex format

author = {Shrine, N and Portelli, MA and John, C and Soler, Artigas M and Bennett, N and Hall, R and Lewis, J and Henry, AP and Billington, CK and Ahmad, A and Packer, RJ and Shaw, D and Pogson, ZEK and Fogarty, A and McKeever, TM and Singapuri, A and Heaney, LG and Mansur, AH and Chaudhuri, R and Thomson, NC and Holloway, JW and Lockett, GA and Howarth, PH and Djukanovic, R and Hankinson, J and Niven, R and Simpson, A and Chung, KF and Sterk, PJ and Blakey, JD and Adcock, IM and Hu, S and Guo, Y and Obeidat, M and Sin, DD and van, den Berge M and Nickle, DC and Bossé, Y and Tobin, MD and Hall, IP and Brightling, CE and Wain, LV and Sayers, I},
doi = {10.1016/S2213-2600(18)30389-8},
journal = {Lancet Respiratory Medicine},
pages = {20--34},
title = {Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study},
url = {},
volume = {7},
year = {2019}

RIS format (EndNote, RefMan)

AB - BACKGROUND: Few genetic studies that focus on moderate-to-severe asthma exist. We aimed to identity novel genetic variants associated with moderate-to-severe asthma, see whether previously identified genetic variants for all types of asthma contribute to moderate-to-severe asthma, and provide novel mechanistic insights using expression analyses in patients with asthma. METHODS: In this genome-wide association study, we used a two-stage case-control design. In stage 1, we genotyped patient-level data from two UK cohorts (the Genetics of Asthma Severity and Phenotypes [GASP] initiative and the Unbiased BIOmarkers in PREDiction of respiratory disease outcomes [U-BIOPRED] project) and used data from the UK Biobank to collect patient-level genomic data for cases and controls of European ancestry in a 1:5 ratio. Cases were defined as having moderate-to-severe asthma if they were taking appropriate medication or had been diagnosed by a doctor. Controls were defined as not having asthma, rhinitis, eczema, allergy, emphysema, or chronic bronchitis as diagnosed by a doctor. For stage 2, an independent cohort of cases and controls (1:5) was selected from the UK Biobank only, with no overlap with stage 1 samples. In stage 1 we undertook a genome-wide association study of moderate-to-severe asthma, and in stage 2 we followed up independent variants that reached the significance threshold of p less than 1×10-6 in stage 1. We set genome-wide significance at p less than 5×10-8. For novel signals, we investigated their effect on all types of asthma (mild, moderate, and severe). For all signals meeting genome-wide significance, we investigated their effect on gene expression in patients with asthma and controls. FINDINGS: We included 5135 cases and 25675 controls for stage 1, and 5414 cases and 21471 controls for stage 2. We identified 24 genome-wide significant signals of association with moderate-to-severe asthma, including several signals in innate or adaptive im
AU - Shrine,N
AU - Portelli,MA
AU - John,C
AU - Soler,Artigas M
AU - Bennett,N
AU - Hall,R
AU - Lewis,J
AU - Henry,AP
AU - Billington,CK
AU - Ahmad,A
AU - Packer,RJ
AU - Shaw,D
AU - Pogson,ZEK
AU - Fogarty,A
AU - McKeever,TM
AU - Singapuri,A
AU - Heaney,LG
AU - Mansur,AH
AU - Chaudhuri,R
AU - Thomson,NC
AU - Holloway,JW
AU - Lockett,GA
AU - Howarth,PH
AU - Djukanovic,R
AU - Hankinson,J
AU - Niven,R
AU - Simpson,A
AU - Chung,KF
AU - Sterk,PJ
AU - Blakey,JD
AU - Adcock,IM
AU - Hu,S
AU - Guo,Y
AU - Obeidat,M
AU - Sin,DD
AU - van,den Berge M
AU - Nickle,DC
AU - Bossé,Y
AU - Tobin,MD
AU - Hall,IP
AU - Brightling,CE
AU - Wain,LV
AU - Sayers,I
DO - 10.1016/S2213-2600(18)30389-8
EP - 34
PY - 2019///
SN - 2213-2600
SP - 20
TI - Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study
T2 - Lancet Respiratory Medicine
UR -
UR -
UR -
VL - 7
ER -