دورية أكاديمية

The necessity of incorporating non-genetic risk factors into polygenic risk score models.

التفاصيل البيبلوغرافية
العنوان: The necessity of incorporating non-genetic risk factors into polygenic risk score models.
المؤلفون: van Dam S; Department of Endocrinology, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands. Sipkovandam@gmail.com.; Ancora Health B.V., Herestraat 106, 9711 LM, Groningen, The Netherlands. Sipkovandam@gmail.com., Folkertsma P; Department of Endocrinology, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Ancora Health B.V., Herestraat 106, 9711 LM, Groningen, The Netherlands., Castela Forte J; Ancora Health B.V., Herestraat 106, 9711 LM, Groningen, The Netherlands.; Department of Clinical Pharmacy and Pharmacology, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands., de Vries DH; Department of Endocrinology, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Ancora Health B.V., Herestraat 106, 9711 LM, Groningen, The Netherlands., Herrera Cunillera C; Department of Endocrinology, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.; Ancora Health B.V., Herestraat 106, 9711 LM, Groningen, The Netherlands., Gannamani R; Ancora Health B.V., Herestraat 106, 9711 LM, Groningen, The Netherlands.; Department of Neurology, University of Groningen, University Medical Center Groningen, P.O. Box 31000, 9700 RB, Groningen, The Netherlands., Wolffenbuttel BHR; Department of Endocrinology, University of Groningen, University Medical Center Groningen, P.O. Box 30001, 9700 RB, Groningen, The Netherlands.
المصدر: Scientific reports [Sci Rep] 2023 Feb 20; Vol. 13 (1), pp. 1351. Date of Electronic Publication: 2023 Feb 20.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: London : Nature Publishing Group, copyright 2011-
مواضيع طبية MeSH: Diabetes Mellitus, Type 2*/genetics , Coronary Artery Disease*/genetics, Humans ; Genetic Predisposition to Disease ; Risk Factors ; Genetic Testing
مستخلص: The growing public interest in genetic risk scores for various health conditions can be harnessed to inspire preventive health action. However, current commercially available genetic risk scores can be deceiving as they do not consider other, easily attainable risk factors, such as sex, BMI, age, smoking habits, parental disease status and physical activity. Recent scientific literature shows that adding these factors can improve PGS based predictions significantly. However, implementation of existing PGS based models that also consider these factors requires reference data based on a specific genotyping chip, which is not always available. In this paper, we offer a method naïve to the genotyping chip used. We train these models using the UK Biobank data and test these externally in the Lifelines cohort. We show improved performance at identifying the 10% most at-risk individuals for type 2 diabetes (T2D) and coronary artery disease (CAD) by including common risk factors. Incidence in the highest risk group increases from 3.0- and 4.0-fold to 5.8 for T2D, when comparing the genetics-based model, common risk factor-based model and combined model, respectively. Similarly, we observe an increase from 2.4- and 3.0-fold to 4.7-fold risk for CAD. As such, we conclude that it is paramount that these additional variables are considered when reporting risk, unlike current practice with current available genetic tests.
(© 2023. The Author(s).)
References: Arch Intern Med. 2007 May 28;167(10):1068-74. (PMID: 17533210)
PLoS One. 2015 Sep 25;10(9):e0138568. (PMID: 26406308)
Diabetes. 2017 Nov;66(11):2888-2902. (PMID: 28566273)
Biol Psychiatry. 2021 Nov 1;90(9):611-620. (PMID: 34304866)
Circulation. 2022 Aug 23;146(8):587-596. (PMID: 35880530)
Arch Intern Med. 2010 Apr 26;170(8):711-8. (PMID: 20421558)
PLoS Med. 2021 Jan 14;18(1):e1003498. (PMID: 33444330)
PLoS Med. 2015 Mar 31;12(3):e1001779. (PMID: 25826379)
Pediatr Diabetes. 2019 Feb;20(1):5-9. (PMID: 30311716)
NPJ Digit Med. 2022 Mar 11;5(1):30. (PMID: 35277577)
CMAJ. 2006 Mar 14;174(6):801-9. (PMID: 16534088)
J Pers Med. 2021 Jun 21;11(6):. (PMID: 34205563)
Hum Mol Genet. 2020 May 28;29(8):1388-1395. (PMID: 32219344)
Circulation. 2008 Feb 12;117(6):743-53. (PMID: 18212285)
Clin Chem. 2019 May;65(5):609-611. (PMID: 30808642)
Nat Med. 2020 Apr;26(4):549-557. (PMID: 32273609)
JAMA. 1982 May 14;247(18):2543-6. (PMID: 7069920)
J Am Coll Cardiol. 2020 Jun 9;75(22):2769-2780. (PMID: 32498804)
Front Genet. 2020 Jun 08;11:613. (PMID: 32582302)
Nat Genet. 2016 Oct;48(10):1284-1287. (PMID: 27571263)
BMJ Nutr Prev Health. 2020 Aug 18;3(2):188-195. (PMID: 33521528)
Nat Commun. 2020 Jul 3;11(1):3353. (PMID: 32620889)
Am J Epidemiol. 2017 Oct 1;186(7):753-761. (PMID: 28978193)
J Phys Act Health. 2020 Oct 31;17(12):1259-1274. (PMID: 33129198)
Am J Public Health. 2008 Jan;98(1):9-10. (PMID: 18048772)
Cureus. 2021 Jun 17;13(6):e15715. (PMID: 34290916)
Genome Med. 2021 Jan 28;13(1):14. (PMID: 33509269)
Diabetes Care. 2021 Apr;44(4):935-943. (PMID: 33563654)
JAMA Cardiol. 2018 Aug 1;3(8):693-702. (PMID: 29955826)
Genome Med. 2018 Dec 27;10(1):100. (PMID: 30591078)
Elife. 2020 Jan 30;9:. (PMID: 31999256)
Front Genet. 2021 Feb 11;12:632385. (PMID: 33643391)
Nat Genet. 2015 Oct;47(10):1121-1130. (PMID: 26343387)
J Am Coll Cardiol. 2018 Oct 16;72(16):1883-1893. (PMID: 30309464)
Curr Opin Psychol. 2015 Oct 1;5:85-89. (PMID: 26258160)
Nat Commun. 2020 Dec 14;11(1):6383. (PMID: 33318493)
Nature. 2015 Oct 1;526(7571):68-74. (PMID: 26432245)
Int J Epidemiol. 2015 Aug;44(4):1172-80. (PMID: 25502107)
JAMA. 2020 Feb 18;323(7):636-645. (PMID: 32068818)
Nat Genet. 2018 Sep;50(9):1219-1224. (PMID: 30104762)
Nat Commun. 2019 Oct 25;10(1):4897. (PMID: 31653860)
Genet Med. 2017 Mar;19(3):322-329. (PMID: 27513194)
Int J Environ Res Public Health. 2018 Mar 01;15(3):. (PMID: 29494555)
BMJ. 2021 Feb 15;372:n214. (PMID: 33589468)
Nat Rev Genet. 2018 Sep;19(9):581-590. (PMID: 29789686)
Nat Protoc. 2020 Sep;15(9):2759-2772. (PMID: 32709988)
Am J Hum Genet. 2003 May;72(5):1117-30. (PMID: 12677558)
Nat Med. 2021 Nov;27(11):1876-1884. (PMID: 34782789)
تواريخ الأحداث: Date Created: 20230222 Date Completed: 20230224 Latest Revision: 20230316
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC9941118
DOI: 10.1038/s41598-023-27637-w
PMID: 36807592
قاعدة البيانات: MEDLINE
الوصف
تدمد:2045-2322
DOI:10.1038/s41598-023-27637-w