BibTex format

author = {Rhodes, CJ and Batai, K and Bleda, M and Haimel, M and Southgate, L and Germain, M and Pauciulo, MW and Hadinnapola, C and Aman, J and Girerd, B and Arora, A and Knight, J and Hanscombe, KB and Karnes, JH and Kaakinen, M and Gall, H and Ulrich, A and Harbaum, L and Cebola, I and Ferrer, J and Lutz, K and Swietlik, EM and Ahmad, F and Amouyel, P and Archer, SL and Argula, R and Austin, ED and Badesch, D and Bakshi, S and Barnett, C and Benza, R and Bhatt, N and Bogaard, HJ and Burger, CD and Chakinala, M and Church, C and Coghlan, JG and Condliffe, R and Corris, PA and Danesino, C and Debette, S and Elliott, CG and Elwing, J and Eyries, M and Fortin, T and Franke, A and Frantz, RP and Frost, A and Garcia, JGN and Ghio, S and Ghofrani, H-A and Gibbs, JSR and Harley, J and He, H and Hill, NS and Hirsch, R and Houweling, AC and Howard, LS and Ivy, D and Kiely, DG and Klinger, J and Kovacs, G and Lahm, T and Laudes, M and Machado, RD and Ross, RVM and Marsolo, K and Martin, LJ and Moledina,},
doi = {10.1016/S2213-2600(18)30409-0},
journal = {Lancet Respiratory Medicine},
pages = {227--238},
title = {Genetic determinants of risk in pulmonary arterial hypertension: international case-control studies and meta-analysis},
url = {},
volume = {7},
year = {2019}

RIS format (EndNote, RefMan)

AB - BackgroundRare genetic variants cause pulmonary arterial hypertension, but the contribution of common genetic variation to disease risk and natural history is poorly characterised. We tested for genome-wide association for pulmonary arterial hypertension in large international cohorts and assessed the contribution of associated regions to outcomes.MethodsWe did two separate genome-wide association studies (GWAS) and a meta-analysis of pulmonary arterial hypertension. These GWAS used data from four international case-control studies across 11744 individuals with European ancestry (including 2085 patients). One GWAS used genotypes from 5895 whole-genome sequences and the other GWAS used genotyping array data from an additional 5849 individuals. Cross-validation of loci reaching genome-wide significance was sought by meta-analysis. Conditional analysis corrected for the most significant variants at each locus was used to resolve signals for multiple associations. We functionally annotated associated variants and tested associations with duration of survival. All-cause mortality was the primary endpoint in survival analyses.FindingsA locus near SOX17 (rs10103692, odds ratio 1·80 [95% CI 1·55–2·08], p=5·13×10–15) and a second locus in HLA-DPA1 and HLA-DPB1 (collectively referred to as HLA-DPA1/DPB1 here; rs2856830, 1·56 [1·42–1·71], p=7·65×10–20) within the class II MHC region were associated with pulmonary arterial hypertension. The SOX17 locus had two independent signals associated with pulmonary arterial hypertension (rs13266183, 1·36 [1·25–1·48], p=1·69×10–12; and rs10103692). Functional and epigenomic data indicate that the risk variants near SOX17 alter gene regulation via an enhancer active in endothelial cells. Pulmonary arterial hypertension risk variants determined haplotype-specific enhancer activity, and CRISPR-media
AU - Rhodes,CJ
AU - Batai,K
AU - Bleda,M
AU - Haimel,M
AU - Southgate,L
AU - Germain,M
AU - Pauciulo,MW
AU - Hadinnapola,C
AU - Aman,J
AU - Girerd,B
AU - Arora,A
AU - Knight,J
AU - Hanscombe,KB
AU - Karnes,JH
AU - Kaakinen,M
AU - Gall,H
AU - Ulrich,A
AU - Harbaum,L
AU - Cebola,I
AU - Ferrer,J
AU - Lutz,K
AU - Swietlik,EM
AU - Ahmad,F
AU - Amouyel,P
AU - Archer,SL
AU - Argula,R
AU - Austin,ED
AU - Badesch,D
AU - Bakshi,S
AU - Barnett,C
AU - Benza,R
AU - Bhatt,N
AU - Bogaard,HJ
AU - Burger,CD
AU - Chakinala,M
AU - Church,C
AU - Coghlan,JG
AU - Condliffe,R
AU - Corris,PA
AU - Danesino,C
AU - Debette,S
AU - Elliott,CG
AU - Elwing,J
AU - Eyries,M
AU - Fortin,T
AU - Franke,A
AU - Frantz,RP
AU - Frost,A
AU - Garcia,JGN
AU - Ghio,S
AU - Ghofrani,H-A
AU - Gibbs,JSR
AU - Harley,J
AU - He,H
AU - Hill,NS
AU - Hirsch,R
AU - Houweling,AC
AU - Howard,LS
AU - Ivy,D
AU - Kiely,DG
AU - Klinger,J
AU - Kovacs,G
AU - Lahm,T
AU - Laudes,M
AU - Machado,RD
AU - Ross,RVM
AU - Marsolo,K
AU - Martin,LJ
AU - Moledina,S
AU - Montani,D
AU - Nathan,SD
AU - Newnham,M
AU - Olschewski,A
AU - Olschewski,H
AU - Oudiz,RJ
AU - Ouwehand,WH
AU - Peacock,AJ
AU - Pepke-Zaba,J
AU - Rehman,Z
AU - Robbins,I
AU - Roden,DM
AU - Rosenzweig,EB
AU - Saydain,G
AU - Scelsi,L
AU - Schilz,R
AU - Seeger,W
AU - Shaffer,CM
AU - Simms,RW
AU - Simon,M
AU - Sitbon,O
AU - Suntharalingam,J
AU - Tang,H
AU - Tchourbanov,AY
AU - Thenappan,T
AU - Torres,F
AU - Toshner,MR
AU - Treacy,CM
AU - Noordegraaf,AV
AU - Waisfisz,Q
AU - Walsworth,AK
AU - Walter,RE
AU - Wharton,J
AU - White,RJ
AU - Wilt,J
AU - Wort,SJ
AU - Yung,D
AU - Lawrie,A
AU - Humbert,M
AU - Soubrier,F
AU - Trégouët,D-A
AU - Prokopenko,I
AU - Kittles,R
AU - Gräf,S
AU - Nichols,WC
AU - Trembath,RC
AU - Desai,AA
AU - Morrell,NW
AU - Wilkins,MR
AU - UK,NIHR BioResource Rare Diseases Consortium
AU - UK,PAH Cohort Study Consortium
AU - US,PAH Biobank Consortium
DO - 10.1016/S2213-2600(18)30409-0
EP - 238
PY - 2019///
SN - 2213-2600
SP - 227
TI - Genetic determinants of risk in pulmonary arterial hypertension: international case-control studies and meta-analysis
T2 - Lancet Respiratory Medicine
UR -
UR -
VL - 7
ER -