Clinical Information (ข้อมูลทางคลินิก):
Apolipoprotein E (ApoE) locates on 19q13.2 and consists of 299 amino in length. It plays an important role in cholesterol transportation and metabolism. Three most common alleles of ApoE are e3 (Cys112/Arg158), e2(Cys112/Cys158) and e4(Arg112/Arg158). Among these three alleles, e3 is the wildtype and most commonly found. Mutation in ApoE might increase or decrease the risk for cardiovascular disease.
Clinical Reference (เอกสารอ้างอิง):
1. Eichner JE, Dunn ST, Perveen G, Thompson DM, Stewart KE, Stroehla BC. Apolipoprotein E polymorphism and cardiovascular disease: a HuGE review. Am J Epidemiol. 2002 Mar 15;155(6):487-95.
2. Schaefer EJ, Lamon-Fava S, Johnson S, Ordovas JM, Schaefer MM, Castelli WP, Wilson PW. Effects of gender and menopausal status on the association of apolipoprotein E phenotype with plasma lipoprotein levels. Results from the Framingham Offspring Study. Arterioscler Thromb. 1994 Jul;14(7):1105-13.
3. Song Y, Stampfer MJ, Liu S. Meta-analysis: apolipoprotein E genotypes and risk for coronary heart disease. Ann Intern Med. 2004 Jul 20;141(2):137-47.
4. Goldman JS, Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeux R, Bird T; American College of Medical Genetics and the National Society of Genetic Counselors. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011 Jun;13(6):597-605.
5. Van Cauwenberghe C, Van Broeckhoven C, Sleegers K. The genetic landscape of Alzheimer disease: clinical implications and perspectives. Genet Med. 2016 May;18(5):421-30.
6. Li Z, Shue F, Zhao N, Shinohara M, Bu G. APOE2: protective mechanism and therapeutic implications for Alzheimer's disease. Mol Neurodegener. 2020 Nov 4;15(1):63.