Apolipoprotein E variation at the sequence haplotype level: implications for the origin and maintenance of a major human polymorphism.

• Published in: The American Journal of Human Genetics
• Main Authors: Fullerton, S M, Clark, A G, Weiss, K M, Nickerson, D A, Taylor, S L, Stengârd, J H, Salomaa, V, Vartiainen, E, Perola, M, Boerwinkle, E, Sing, C F
• Format: Article in Journal/Newspaper
• Language: English
• Published: Elsevier Science 2000
• Subjects: Indel’; karelia*
• Online Access: https://doi.org/10.1086/303070; https://pubmed.ncbi.nlm.nih.gov/10986041; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1287893/

Three common protein isoforms of apolipoprotein E (apoE), encoded by the epsilon2, epsilon3, and epsilon4 alleles of the APOE gene, differ in their association with cardiovascular and Alzheimer's disease risk. To gain a better understanding of the genetic variation underlying this important pol...