APOE genotipizálás szív- és érrendszeri betegségekben
Más néven:
Hivatalos név:
Apolipoprotein E genotipizálás
Másnéven: 25-Hidroxi-D vitamin (Kalcidiol); 1.25 Dihidroxi-D vitamin (Kalcitriol)
012.  A cikk utoljára módosult: 27.10.2017.
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Az apolipoprotein E (APOE) genotipizálását rendszerint kutatások részeként végzik a szív-érrendszeri betegségek genetikai hátterének megértése céljából. Olykor azonban a diagnosztikában is alkalmazzák a III-as típusú hiperlipoproteinémia (más néven familiáris diszbétalipoproteinémia) diagnózisának felállítására.

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Édesapámnál valószínű idős kori Alzheimer-kórt diagnosztizáltak, de az APOE-genotípusa negatív az ε4 allélra. Szükség van további genetikai vizsgálatokra?
Érdemes mindenkinek megcsináltatnia az APOE-genotipizálást?

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Felhasznált irodalom

Aktuális áttekintésben használt források

2017 review performed by Allison B. Chambliss, PhD, DABCC, FACB, Scientific Director, LAC+USC Medical Center Core Laboratory.

Mahley RW, Weisgraber KH, and Huang Y. Apolipoprotein E: structure determines function, from atherosclerosis to Alzheimer's disease to AIDS. J Lipid Res. 2009 Apr; 50(Suppl): S183–S188. Available online at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674716/. Accessed Sept 2017.

Bays HE, Jones PH, Orringer CE, Brown WV, Jacobson TA. National Lipid Association Annual Summary of Clinical Lipidology 2016. J Clin Lipidol. 2016 Jan-Feb;10(1 Suppl):S1-43. doi: 10.1016/j.jacl.2015.08.002. Available online at https://www.ncbi.nlm.nih.gov/pubmed/26891998 http://nlaresourcecenter.lipidjournal.com/Content/PDFs/Appendix-Final.pdf. Accessed Sept 2017.

Rosenson RS. Lipoprotein classification, metabolism, and role in atherosclerosis. UpToDate. Last updated May 05, 2017. Available online at https://www.uptodate.com/contents/lipoprotein-classification-metabolism-and-role-in-atherosclerosis?source=search_result&search=apolipoprotein%20e&selectedTitle=4~53. Accessed Sept 2017.

Korábbi áttekintések során használt források

Thomas, Clayton L., Editor (1997). Taber's Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].

Pagana, Kathleen D. & Pagana, Timothy J. (2001). Mosby's Diagnostic and Laboratory Test Reference 5th Edition: Mosby, Inc., Saint Louis, MO.

Sloane, P. (1998, November 1). Advances in the Treatment of Alzheimer's Disease. American Family Physician by the American Academy of Family Physicians [On-line journal]. Available online at http://www.aafp.org/afp/981101ap/sloane.html.

Eastman, P. (2002 March). Keeping Alzheimer's at Bay, Early Diagnosis Keeps Patients Functioning Longer. AARP Bulletin Online [On-line serial]. Available online at http://www.aarp.org/bulletin/departments/2002/health/0310_health_1.html.

McConnell, S., et. al. Unraveling the Mysteries of Alzheimer's Disease: Exciting New Developments in Research. From panel sponsored by the Alzheimer's Association [On-line information]. Available online at http://www.asaging.org/am/cia2/alzheimer.html.

Galasko, D., et. al. (1998). High Cerebrospinal Fluid Tau and Low Amyloid b42 Levels in the Clinical Diagnosis of Alzheimer Disease and Relation to Apolipoprotein E Genotype. Arch Neurol [On-line journal], vol (55) pages (937-945). Available online at http://archneur.ama-assn.org/issues/v55n7/abs/noc7433.html.

ARF (1996-2002). Standard Medical Workup for Alzheimer's Disease. Alzheimer Research Forum [On-line information]. Available online at http://www.alzforum.org/members/research/treatment_guide/workup.html.

Family Caregiver Alliance. Fact Sheet: Alzheimer's Disease [On-line information]. Available online at http://www.caregiver.org/factsheets/diagnoses/alzheimersC.html.

Bird, T. (2001 June 22 last update). Alzheimer Overview. GeneReviews [On-line information]. Available online through http://www.genetests.org.

Gottlieb, F. and Lambert, J. G. (2002, January 2, last update). Alzheimer’s Disease. MEDLINEplus [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000760.htm.

Miller, M. (1998 February 18). 26 national Alzheimer's Disease Centers Collaborate on Study of the Utility of Genetic Testing for Alzheimer’s. National Institutes of Health News Release [On-line press release]. Available online at http://www.nia.nih.gov/news/pr/1998/02%2D18.htm.

NIH (2000). Progress report on Alzheimer's disease, taking the next steps. NIH Publication No. 00-4859 [On-line report]. Available online at http://www.alzheimers.org/pubs/prog00.htm#Introduction.

UniSci (2002, April 08). New Approaches Seen For Early Alzheimer's Diagnosis. Daily University Science News [On-line Article]. Review of two studies found in Neuropsychology, Vol 16 (2). Available online at http://unisci.com/stories/20022/0408025.htm.

Eldercare (2002 February 28, last update). Is it Alzheimer's ... or Just Forgetfulness? Sponsored by Nebraska's Area Agencies on Aging [On-line information]. Available online at http://nncf.unl.edu/eldercare/info/lifeline/LLforget.html.

Hain, T. (2000 February 13). Alzheimer's Disease. Neurology, Northwestern University Medical School [3rd year neurology medical student curriculum material]. Available online at http://www.neuro.nwu.edu/meded/behavioral/alzheimers.html.

Kleiner-Fisman, G., Updated by (2002 January 2, last update). CSF Collection. MedlinePlus [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/003428.htm.

MedlinePlus, (2001 November 20). Familial dysbetalipoproteinemia. MedlinePlus [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000402.htm.

Eichner, J., et. al. (2002, March 15). Apolipoprotein E Polymorphism and Cardiovascular Disease. HuGE Review, appeared in Am J Epidemiol2002 [On-line journal], 155(6): 487-95. Available online at http://www.cdc.gov/genomics/hugenet/reviews/APOEcardio.htm through http://www.cdc.gov.

MedlinePlus, (2001 October 29). Familial hypercholesterolemia. MedlinePlus [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000392.htm.

Stephen P. Day, Ph.D. Director, Medical Affairs, Third Wave Molecular Diagnostics.

Robert C. Green, M.D., M.P.H. Professor of Neurology, Genetics and Epidemiology. Director, Alzheimer's Disease Clinical and Research Program. Boston University Schools of Medicine and Public Health, Boston, MA.

Ian R.A. Mackenzie, MD FRCPC. Department of Pathology, Vancouver General Hospital, British Columbia, Canada.

Pagana, K. D. & Pagana, T. J. (© 2007). Mosby's Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO. Pp 110-114.

(Updated 2009 May 9). Alzheimer's Disease Genetics Fact Sheet. Alzheimer’s Disease Education & Referral Center [On-line information]. Available online at http://www.nia.nih.gov/Alzheimers/Publications/geneticsfs.htm. Accessed May 2009.

Bird, T. (Revised 2008 July 24). Alzheimer Disease Overview. GeneReviews [On-line information]. Available online at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene∂=alzheimer. Accessed May 2009.

Rogaeva, E. (2009 February 5). The Genetic Profile of Alzheimer's Disease: Updates and Considerations. Medscape from Geriatrics and Aging [On-line information]. Available online at http://www.medscape.com/viewarticle/586756. Accessed May 2009.

Gandelman, G. (Updated 2008 January 23). Familial dysbetalipoproteinemia. MedlinePlus Medical Encyclopedia [On-line information]. Available online at http://www.nlm.nih.gov/medlineplus/ency/article/000402.htm. Accessed May 2009.

Mayo Clinic Staff (2008 September 17). Alzheimer's: Is it in your genes? MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/print/alzheimers-genes/AZ00047/METHOD=print. Accessed May 2009.

(Updated 2008 December). Cardiovascular Disease (Non-traditional Risk Markers) - Risk Markers - CVD (Non-traditional). ARUP Consult [On-line information]. Available online at http://www.arupconsult.com/Topics/CardiacDz/CVDRiskMarkerNontrad.html. Accessed May 2009.

(September 18, 2007) Riordan M. Linear association among apoE genotypes with LDL levels and coronary risk. Available online at http://www.theheart.org/article/813529.do. Accessed July 2009.

(August 10, 2009) Ward H, et. al. APOE Genotype, Lipids, and Coronary Heart Disease Risk, A Prospective Population. Arch Intern Med. 2009;169(15):1424-1429. Available online at http://archinte.jamanetwork.com/article.aspx?articleid=1108512. Accessed October 2013.

(2013) Yan-Wei Yin, et al. Association between Apolipoprotein E Gene Polymorphism and the Risk of Coronary Artery Disease in Chinese Population: Evidence from a Meta-Analysis of 40 Studies. PLoS ONE 8(6): e66924. doi:10.1371/journal.pone.0066924. Available online at http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0066924. Accessed October 2013.

Henry's Clinical Diagnosis and Management by Laboratory Methods. 22nd ed. McPherson R, Pincus M, eds. Philadelphia, PA: Saunders Elsevier: 2011, 230-231.

(December 2, 2010) Citkowitz E. Dysbetalipoproteinemia Workup. Medscape Reference. Available online at http://emedicine.medscape.com/article/118466-workup. Accessed October 2013.

(2007) Bennet A, et al. Association of apolipoprotein E genotypes with lipid levels and coronary risk. JAMA 2007; 298(11):1300. Abstract available online at http://www.ncbi.nlm.nih.gov/pubmed/17878422. Accessed October 2013.

(2008) Donnelly L, et al. Apolipoprotein E genotypes are associated with lipid lowering responses to statin treatment in diabetes: a Go-DARTS study. Pharmacogenet Genomics 2008; 18(4):279. Abstract available online at http://www.ncbi.nlm.nih.gov/pubmed/18334912. Accessed October 2013.

(2012) Ciftdogan D et al. The association of apolipoprotein E polymorphism and lipid levels in children with a family history of premature coronary artery disease. J Clin Lipidol 2012; 6(1):81. Abstract available online at http://www.ncbi.nlm.nih.gov/pubmed/22264578. Accessed October 2013.

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics. Burtis CA, Ashwood ER, Bruns DE, eds. 4th edition, St. Louis: Elsevier Saunders; 2006, Pp 930-931.

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Elsewhere On The Web

https://ghr.nlm.nih.gov/gene/APOE

https://medlineplus.gov/ency/article/000402.htm

https://medlineplus.gov/ency/article/000171.htm

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