Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry

被引：7

作者：

Darst, Burcu F. ^{[1
,2
]}

Shen, Jiayi ^{[1
]}

Madduri, Ravi K. ^{[3
]}

Rodriguez, Alexis A. ^{[3
]}

Xiao, Yukai ^{[3
]}

Sheng, Xin ^{[1
]}

Saunders, Edward J. ^{[4
]}

Dadaev, Tokhir ^{[4
]}

Brook, Mark N. ^{[4
]}

Hoffmann, Thomas J. ^{[5
]}

Muir, Kenneth ^{[6
]}

Wan, Peggy ^{[1
]}

Le Marchand, Loic ^{[7
]}

Wilkens, Lynne ^{[7
]}

Wang, Ying ^{[8
]}

Schleutker, Johanna ^{[9
]}

MacInnis, Robert J. ^{[10
,11
]}

Cybulski, Cezary ^{[12
]}

Neal, David E. ^{[13
,14
,15
]}

Nordestgaard, Borge G. ^{[16
,17
]}

Nielsen, Sune F. ^{[16
,17
]}

Batra, Jyotsna ^{[18
,19
,20
]}

Clements, Judith A. ^{[18
,19
,20
]}

Gronberg, Henrik ^{[22
]}

Pashayan, Nora ^{[23
,24
]}

Travis, Ruth C. ^{[25
]}

Park, Jong Y. ^{[26
]}

Albanes, Demetrius ^{[27
]}

Weinstein, Stephanie ^{[27
]}

Mucci, Lorelei A. ^{[28
]}

Hunter, David J. ^{[29
]}

Penney, Kathryn L. ^{[30
]}

Tangen, Catherine M. ^{[31
]}

Hamilton, Robert J. ^{[32
,33
]}

Parent, Marie-Elise ^{[34
,35
]}

Stanford, Janet L. ^{[2
,36
]}

Koutros, Stella ^{[27
]}

Wolk, Alicja ^{[37
,38
]}

Sorensen, Karina D. ^{[39
,40
]}

Blot, William J. ^{[41
,42
]}

Yeboah, Edward D. ^{[43
,44
]}

Mensah, James E. ^{[43
,44
]}

Lu, Yong-Jie ^{[45
]}

Schaid, Daniel J. ^{[46
]}

Thibodeau, Stephen N. ^{[47
]}

West, Catharine M. ^{[48
]}

Maier, Christiane ^{[49
]}

Kibel, Adam S. ^{[50
]}

Cancel-Tassin, Geraldine ^{[51
,52
]}

Menegaux, Florence ^{[53
]}

机构：

[1] Univ Southern Calif, Keck Sch Med, Dept Populat & Publ Hlth Sci, Ctr Genet Epidemiol, Los Angeles, CA 90007 USA

[2] Fred Hutchinson Canc Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA

[3] Argonne Natl Lab, Lemont, IL USA

[4] Inst Canc Res, London, England

[5] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA USA

[6] Univ Manchester, Fac Biol Med & Hlth, Sch Hlth Sci, Div Populat Hlth Hlth Serv Res & Primary Care, Manchester, Lancs, England

[7] Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA

[8] Amer Canc Soc, Dept Populat Sci, Atlanta, GA 30329 USA

[9] Univ Turku, Inst Biomed, Turku, Finland

[10] Canc Council Victoria, Canc Epidemiol Div, Melbourne, Vic, Australia

[11] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Carlton, Vic, Australia

[12] Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, Szczecin, Poland

[13] Univ Oxford, John Radcliffe Hosp, Nuffield Dept Surg Sci, Oxford, England

[14] Univ Cambridge, Addenbrookes Hosp, Dept Oncol, Cambridge, England

[15] Canc Res UK, Cambridge Res Inst, Li Ka Shing Ctr, Cambridge, England

[16] Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark

[17] Copenhagen Univ Hosp, Herlev & Gentofte Hosp, Dept Clin Biochem, Herlev, Denmark

[18] Queensland Univ Technol, Australian Prostate Canc Res Ctr Qld, Inst Hlth & Biomed Innovat, Brisbane, Qld, Australia

[19] Queensland Univ Technol, Sch Biomed Sci, Brisbane, Qld, Australia

[20] Translat Res Inst, Brisbane, Qld, Australia

[21] Chris OBrien Lifehouse & Kinghorn Canc Ctr, Sydney, NSW, Australia

[22] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

[23] UCL, Dept Appl Hlth Res, London, England

[24] Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Ctr Canc Genet Epidemiol, Cambridge, England

[25] Univ Oxford, Nuffield Dept Populat Hlth, Canc Epidemiol Unit, Oxford, England

[26] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL USA

[27] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA

[28] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA

[29] Univ Oxford, Nuffield Dept Populat Hlth, Oxford, England

[30] Harvard Med Sch, Brigham & Womens Hosp, Dept Med, Channing Div Network Med, Boston, MA 02115 USA

[31] Fred Hutchinson Canc Ctr, SWOG Stat Ctr, Seattle, WA USA

[32] Princess Margaret Canc Ctr, Dept Surg Oncol, Toronto, ON, Canada

[33] Univ Toronto, Dept Urol Surg, Toronto, ON, Canada

[34] Inst Natl Rech Sci, Ctr Armand Frappier Sante Biotechnol, Epidemiol & Biostat Unit, Laval, PQ, Canada

[35] Univ Montreal, Sch Publ Hlth, Dept Social & Prevent Med, Montreal, PQ, Canada

[36] Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA

[37] Karolinska Inst, Inst Environm Med, Div Nutr Epidemiol, Stockholm, Sweden

[38] Uppsala Univ, Dept Surg Sci, Uppsala, Sweden

[39] Aarhus Univ Hosp, Dept Mol Med, Aarhus N, Denmark

[40] Aarhus Univ, Dept Clin Med, Aarhus N, Denmark

[41] Vanderbilt Univ, Med Ctr, Dept Med, Div Epidemiol, Nashville, TN USA

[42] Int Epidemiol Inst, Rockville, MD USA

[43] Univ Ghana, Sch Med, Accra, Ghana

[44] Korle Bu Teaching Hosp, Accra, Ghana

[45] Queen Mary Univ London, Barts Canc Inst, Ctr Biomarkers & Biotherapeut, John Vane Sci Ctr, London, England

[46] Mayo Clin, Dept Quantitat Hlth Sci, Rochester, MN USA

[47] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[48] Univ Manchester, Christie Hosp NHS Fdn Trust, Manchester Acad Hlth Sci Ctr, Div Canc Sci,Radiotherapy Related Res, Manchester, Lancs, England

[49] Humangenet Tuebingen, Tubingen, Germany

[50] Brigham & Womens Hosp, Div Urol Surg, 75 Francis St, Boston, MA 02115 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2023年 / 110卷 / 07期

基金：

美国国家卫生研究院;

关键词：

BIOBANK; PREDICTION;

D O I：

10.1016/j.ajhg.2023.05.010

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide polygenic risk scores (GW-PRSs) have been reported to have better predictive ability than PRSs based on genome-wide significance thresholds across numerous traits. We compared the predictive ability of several GW-PRS approaches to a recently developed PRS of 269 established prostate cancer-risk variants from multi-ancestry GWASs and fine-mapping studies (PRS269). GW-PRS models were trained with a large and diverse prostate cancer GWAS of 107,247 cases and 127,006 controls that we previously used to develop the multi-ancestry PRS269. Resulting models were independently tested in 1,586 cases and 1,047 controls of African ancestry from the California Uganda Study and 8,046 cases and 191,825 controls of European ancestry from the UK Biobank and further validated in 13,643 cases and 210,214 controls of European ancestry and 6,353 cases and 53,362 controls of African ancestry from the Million Vet-eran Program. In the testing data, the best performing GW-PRS approach had AUCs of 0.656 (95% CI = 0.635-0.677) in African and 0.844 (95% CI = 0.840-0.848) in European ancestry men and corresponding prostate cancer ORs of 1.83 (95% CI = 1.67-2.00) and 2.19 (95% CI = 2.14-2.25), respectively, for each SD unit increase in the GW-PRS. Compared to the GW-PRS, in African and European ancestry men, the PRS269 had larger or similar AUCs (AUC = 0.679, 95% CI = 0.659-0.700 and AUC = 0.845, 95% CI = 0.841-0.849, respectively) and comparable prostate cancer ORs (OR = 2.05, 95% CI = 1.87-2.26 and OR = 2.21, 95% CI = 2.16-2.26, respectively). Findings were similar in the validation studies. This investigation suggests that current GW-PRS approaches may not improve the ability to predict prostate cancer risk compared to the PRS269 developed from multi-ancestry GWASs and fine-mapping.

引用

页码：1200 / +

页数：8

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