Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score
Rahul Desikan and colleagues use genetic and epidemiological data from several large cohorts to derive a score for predicting the age-specific risk for developing Alzheimer's disease.
Vyšlo v časopise:
Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. PLoS Med 14(3): e32767. doi:10.1371/journal.pmed.1002258
Kategorie:
Research Article
prolekare.web.journal.doi_sk:
https://doi.org/10.1371/journal.pmed.1002258
Souhrn
Rahul Desikan and colleagues use genetic and epidemiological data from several large cohorts to derive a score for predicting the age-specific risk for developing Alzheimer's disease.
Zdroje
1. Kelley AS, McGarry K, Gorges R, Skinner JS. The burden of health care costs for patients with dementia in the last 5 years of life. Ann Intern Med. 2015;163:729–736. doi: 10.7326/M15-0381 26502320
2. Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA. 1997;278(16):1349–56. 9343467
3. Karch CM, Cruchaga C, Goate AM. Alzheimer’s disease genetics: from the bench to the clinic. Neuron. 2014;83:11–26. doi: 10.1016/j.neuron.2014.05.041 24991952
4. Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease. Nat Genet. 2013;45:1452–8. doi: 10.1038/ng.2802 24162737
5. Desikan RS, Schork AJ, Wang Y, Thompson WK, Dehghan A, Ridker PM, et al. Polygenic overlap between C-reactive protein, plasma lipids, and Alzheimer disease. Circulation. 2015;131:2061–9. doi: 10.1161/CIRCULATIONAHA.115.015489 25862742
6. Wray NR, Goddard ME, Visscher PM. Prediction of individual genetic risk to disease from genome-wide association studies. Genome Res. 2007;17:1520–8. doi: 10.1101/gr.6665407 17785532
7. Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. Nat Genet. 2011;43:436–41. doi: 10.1038/ng.801 21460841
8. Jun G, Ibrahim-Verbaas CA, Vronskaya M, Lambert JC, Chung J, Naj AC, et al. A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry. 2016;21:108–17. doi: 10.1038/mp.2015.23 25778476
9. McKhann G, Drachman D, Folstein M, Hyman BT, Jack CR Jr, Kawas CH, et al. Clinical diagnosis of Alzheimer’s disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer’s Disease. Neurology. 1984;34:939–44. 6610841
10. Beekly DL, Ramos EM, Lee WW, Deitrich WD, Jacka ME, Wu J, et al. The National Alzheimer’s Coordinating Center (NACC) database: the Uniform Data Set. Alzheimer Dis Assoc Disord. 2007;21:249–58. doi: 10.1097/WAD.0b013e318142774e 17804958
11. Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol. 1991;82:239–59. 1759558
12. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brownlee LM, et al. The Consortium to Establish a Registry for Alzheimer’s Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer’s disease. Neurology. 1991;41:479–86. 2011243
13. Hyman BT, Phelps CH, Beach TG, Bigio EH, Cairns NJ, Carrillo MC, et al. National Institute on Aging-Alzheimer’s Association guidelines for the neuropathologic assessment of Alzheimer’s disease. Alzheimers Dement. 2012;8(1):1–13. doi: 10.1016/j.jalz.2011.10.007 22265587
14. Yang J, Ferreira T, Morris AP, Medland SE, Genetic Investigation of ANthropometric Traits (GIANT) Consortium, DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, et al. Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits. Nat Genet. 2012;44:369–75. doi: 10.1038/ng.2213 22426310
15. Dudbridge F. Power and predictive accuracy of polygenic risk scores. PLoS Genet. 2013;9(3):e1003348. doi: 10.1371/journal.pgen.1003348 23555274
16. Klein JP, Houwelingen HC, Ibrahim JG, Scheike TH, editors. Handbook of survival analysis. London: Chapman and Hall/CRC; 2013.
17. Rothman KJ, Greenland S, Lash TL. Modern epidemiology. 3rd ed. Philadelphia: Lippincott Williams & Wilkins; 2008.
18. Brookmeyer R, Gray S, Kawas C. Projections of Alzheimer’s disease in the United States and the public health impact of delaying disease onset. Am J Public Health. 1998;88:1337–42. 9736873
19. Escott-Price V, Sims R, Bannister C, Harold D, Vronskaya M, Majounie E, et al. Common polygenic variation enhances risk prediction for Alzheimer’s disease. Brain. 2015;138(Pt 12):3673–84. doi: 10.1093/brain/awv268 26490334
20. Yokoyama JS, Bonham LW, Sears RL, Klein E, Karydas A, Kramer JH, et al. Decision tree analysis of genetic risk for clinically heterogeneous Alzheimer’s disease. BMC Neurol. 2015;15:47. doi: 10.1186/s12883-015-0304-6 25880661
21. Mormino EC, Sperling RA, Holmes AJ, Buckner RL, De Jager PL, Smoller JW, et al. Polygenic risk of Alzheimer disease is associated with early- and late-life processes. Neurology. 2016;87(5):481–8. doi: 10.1212/WNL.0000000000002922 27385740
22. Martiskainen H, Helisalmi S, Viswanathan J, Kurki M, Hall A, Herukka SK, et al. Effects of Alzheimer’s disease-associated risk loci on cerebrospinal fluid biomarkers and disease progression: a polygenic risk score approach. J Alzheimers Dis. 2015;43(2):565–73. doi: 10.3233/JAD-140777 25096612
23. Lacour A, Espinosa A, Louwersheimer E, Heilmann S, Hernández I, Wolfsgruber S, et al. Genome-wide significant risk factors for Alzheimer’s disease: role in progression to dementia due to Alzheimer’s disease among subjects with mild cognitive impairment. Mol Psychiatry. 2017;22(1):153–160. doi: 10.1038/mp.2016.18 26976043
24. Chouraki V, Reitz C, Maury F, Bis JC, Bellenguez C, Yu L, et al. Evaluation of a genetic risk score to improve risk prediction for Alzheimer’s disease. J Alzheimers Dis. 2016;53(3):921–32. doi: 10.3233/JAD-150749 27340842
25. Tang MX, Stern Y, Marder K, Bell K, Gurland B, Lantigua R, et al. The APOE-epsilon4 allele and the risk of Alzheimer disease among African Americans, whites, and Hispanics. JAMA. 1998;279:751–5. 9508150
26. Sims R, Williams J. Defining the genetic architecture of Alzheimer’s disease: where next. Neurodegener Dis. 2016;16(1–2):6–11. doi: 10.1159/000440841 26550988
27. Chatterjee N, Shi J, García-Closas M. Developing and evaluating polygenic risk prediction models for stratified disease prevention. Nat Rev Genet. 2016;17(7):392–406. doi: 10.1038/nrg.2016.27 27140283
28. Khera AV, Emdin CA, Drake I, Natarajan P, Bick AG, Cook NR, et al. Genetic risk, adherence to a healthy lifestyle, and coronary disease. N Engl J Med. 2016;375(24):2349–58. doi: 10.1056/NEJMoa1605086 27959714
29. Mavaddat N, Pharoah PD, Michailidou K, Tyrer J, Brook MN, Bolla MK, et al. Prediction of breast cancer risk based on profiling with common genetic variants. J Natl Cancer Inst. 2015;107(5):djv036. doi: 10.1093/jnci/djv036 25855707
30. Tang MX, Cross P, Andrews H, Jacobs DM, Jacobs DM, Small S, et al. Incidence of AD in African-Americans, Caribbean Hispanics, and Caucasians in northern Manhattan. Neurology. 2001;56:49–56. 11148235
31. Reitz C, Jun G, Naj A, Rajbhandary R, Vardarajan BN, Wang LS, et al. Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4, and the risk of late-onset Alzheimer disease in African Americans. JAMA. 2013;309:1483–92. doi: 10.1001/jama.2013.2973 23571587
Štítky
Interné lekárstvoČlánok vyšiel v časopise
PLOS Medicine
2017 Číslo 3
- Statinová intolerance
- Očkování proti virové hemoragické horečce Ebola experimentální vakcínou rVSVDG-ZEBOV-GP
- DESATORO PRE PRAX: Aktuálne odporúčanie ESPEN pre nutričný manažment u pacientov s COVID-19
- Metamizol v liečbe pooperačnej bolesti u detí do 6 rokov veku
- Co dělat při intoleranci statinů?
Najčítanejšie v tomto čísle
- Effectiveness of an intervention to facilitate prompt referral to memory clinics in the United Kingdom: Cluster randomised controlled trial
- , , and mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases
- Rehabilitation for people living with dementia: A practical framework of positive support
- Dementia in low-income and middle-income countries: Different realities mandate tailored solutions