Evaluating the cost-effectiveness of polygenic risk score-stratified screening for abdominal aortic aneurysm

被引：0

作者：

Kelemen, M. ^{[1
,2
]}

Danesh, J. ^{[1
,2
]}

Di Angelantonio, E. ^{[1
,2
]}

Inouye, M. ^{[1
,2
,3
]}

O'Sullivan, J. ^{[4
]}

Pennells, L. ^{[1
,2
]}

Roychowdhury, T. ^{[5
]}

Sweeting, M. J. ^{[6
]}

Wood, A. M. ^{[1
,2
]}

Harrison, S. ^{[7
]}

Kim, L. G. ^{[1
,2
]}

机构：

[1] Univ Cambridge, Dept Publ Hlth & Primary Care, British Heart Fdn Cardiovasc Epidemiol Unit, Cambridge, England

[2] Univ Cambridge, Victor Phillip Dahdaleh Heart & Lung Res Inst, Cambridge, England

[3] Baker Heart & Diabet Inst, Melbourne, Australia

[4] Stanford Univ, Div Cardiol, Dept Med, Stanford, CA USA

[5] Yale Sch Med, Dept Genet, New Haven, CT USA

[6] Univ Leicester, Dept Populat Hlth Sci, Leicester, Leics, England

[7] Genom PLC, Oxford, England

来源：

NATURE COMMUNICATIONS | 2024年 / 15卷 / 01期

基金：

英国科研创新办公室; 英国经济与社会研究理事会; 英国医学研究理事会; 英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; METAANALYSIS;

D O I：

10.1038/s41467-024-52452-w

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

As the heritability of abdominal aortic aneurysm (AAA) is high and AAA partially shares genetic architecture with other cardiovascular diseases, genetic information could help inform AAA screening strategies. Exploiting pleiotropy and meta-analysing summary data from large studies, we construct a polygenic risk score (PRS) for AAA. Leveraging related traits improves PRS performance (R-2) by 22.7%, relative to using AAA alone. Compared with the low PRS tertile, intermediate and high tertiles have hazard ratios for AAA of 2.13 (95%CI 1.61, 2.82) and 3.70 (95%CI 2.86, 4.80) respectively, adjusted for clinical risk factors. Using simulation modelling, we compare PRS- and smoking-stratified screening with inviting men at age 65 and not inviting women (current UK strategy). In a futuristic scenario where genomic information is available, our modelling suggests inviting male current smokers with high PRS earlier than 65 and screening female smokers with high/intermediate PRS at 65 and 70 respectively, may improve cost-effectiveness.

引用

页数：10

共 42 条

[1] Genomic risk score offers predictive performance comparable to clinical risk factors for ischaemic stroke [J].

Abraham, Gad ;

Malik, Rainer ;

Yonova-Doing, Ekaterina ;

Salim, Agus ;

Wang, Tingting ;

Danesh, John ;

Butterworth, Adam S. ;

Howson, Joanna M. M. ;

Inouye, Michael ;

Dichgans, Martin .

NATURE COMMUNICATIONS, 2019, 10 (1)

[2] The "All of Us" Research Program [J].

Denny J.C. ;

Rutter J.L. ;

Goldstein D.B. ;

Philippakis A. ;

Smoller J.W. ;

Jenkins G. ;

Dishman E. .

NEW ENGLAND JOURNAL OF MEDICINE, 2019, 381 (07) :668-676

[3]

[Anonymous], Genome UK: 2022 to 2025 implementation plan for England

[4] The Multicentre Aneurysm Screening Study (MASS) into the effect of abdominal aortic aneurysm screening on mortality in men: a randomised controlled trial [J].

Ashton, HA ;

Buxton, MJ ;

Day, NE ;

Kim, LG ;

Marteau, TM ;

Scott, RAP ;

Thomspon, SG ;

Walker, NM .

LANCET, 2002, 360 (9345) :1531-1539

[5]

Barton F., 2023, Deaths registered in England and Wales

[6] Abdominal Aortic Aneurysm Is Associated with a Variant in Low-Density Lipoprotein Receptor-Related Protein 1 [J].

Bown, Matthew J. ;

Jones, Gregory T. ;

Harrison, Seamus C. ;

Wright, Benjamin J. ;

Bumpstead, Suzannah ;

Baas, Annette F. ;

Gretarsdottir, Solveig ;

Badger, Stephen A. ;

Bradley, Declan T. ;

Burnand, Kevin ;

Child, Anne H. ;

Clough, Rachel E. ;

Cockerill, Gillian ;

Hafez, Hany ;

Scott, D. Julian A. ;

Futers, Simon ;

Johnson, Anne ;

Sohrabi, Soroush ;

Smith, Alberto ;

Thompson, Matthew M. ;

van Bockxmeer, Frank M. ;

Waltham, Matthew ;

Matthiasson, Stefan E. ;

Thorleifsson, Gudmar ;

Thorsteinsdottir, Unnur ;

Blankensteijn, Jan D. ;

Teijink, Joep A. W. ;

Wijmenga, Cisca ;

de Graaf, Jacqueline ;

Kiemeney, Lambertus A. ;

Assimes, Themistocles L. ;

McPherson, Ruth ;

Folkersen, Lasse ;

Franco-Cereceda, Anders ;

Palmen, Jutta ;

Smith, Andrew J. ;

Sylvius, Nicolas ;

Wild, John B. ;

Refstrup, Mette ;

Edkins, Sarah ;

Gwilliam, Rhian ;

Hunt, Sarah E. ;

Potter, Simon ;

Lindholt, Jes S. ;

Frikke-Schmidt, Ruth ;

Tybjaerg-Hansen, Anne ;

Hughes, Anne E. ;

Golledge, Jonathan ;

Norman, Paul E. ;

van Rij, Andre .

AMERICAN JOURNAL OF HUMAN GENETICS, 2011, 89 (05) :619-627

[7] Sex-Specific Associations of Vascular Risk Factors With Abdominal Aortic Aneurysm: Findings From 1.5 Million Women and 0.8 Million Men in the United States and United Kingdom [J].

Carter, Jennifer L. ;

Morris, Dylan R. ;

Sherliker, Paul ;

Clack, Rachel ;

Lam, Kin Bong Hubert ;

Halliday, Alison ;

Clarke, Robert ;

Lewington, Sarah ;

Bulbulia, Richard .

JOURNAL OF THE AMERICAN HEART ASSOCIATION, 2020, 9 (04)

[8] Inclusion of variants discovered from diverse populations improves polygenic risk score transferability [J].

Cavazos, Taylor B. ;

Witte, John S. .

HUMAN GENETICS AND GENOMICS ADVANCES, 2021, 2 (01)

[9]

Jacomelli J., Latest annual NHS abdominal aortic aneurysm screening data report published

[10] Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci [J].

Jones, Gregory T. ;

Tromp, Gerard ;

Kuivaniemi, Helena ;

Gretarsdottir, Solveig ;

Baas, Annette F. ;

Giusti, Betti ;

Strauss, Ewa ;

van't Hof, Femke N. G. ;

Webb, Thomas R. ;

Erdman, Robert ;

Ritchie, Marylyn D. ;

Elmore, James R. ;

Verma, Anurag ;

Pendergrass, Sarah ;

Kullo, Iftikhar J. ;

Zy, Zi Ye ;

Peissig, Peggy L. ;

Gottesman, Omri ;

Verma, Shefali S. ;

Malinowski, Jennifer ;

Rasmussen-Torvik, Laura J. ;

Borthwick, Kenneth M. ;

Smelser, Diane T. ;

Crosslin, David R. ;

de Andrade, Mariza ;

Ryer, Evan J. ;

McCarty, Catherine A. ;

Bottinger, Erwin P. ;

Pacheco, Jennifer A. ;

Crawford, Dana C. ;

Carrell, David S. ;

Gerhard, Glenn S. ;

Franklin, David P. ;

Carey, David J. ;

Phillips, Victoria L. ;

Williams, Michael J. A. ;

Wei, Wenhua ;

Blair, Ross ;

Hill, Andrew A. ;

Vasudevan, Thodor M. ;

Lewis, David R. ;

Thomson, Ian A. ;

Krysa, Jo ;

Hill, Geraldine B. ;

Roake, Justin ;

Merriman, Tony R. ;

Oszkinis, Grzegorz ;

Galora, Silvia ;

Saracini, Claudia ;

Abbate, Rosanna .

CIRCULATION RESEARCH, 2017, 120 (02) :341-+

← 1 2 3 4 5 →