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Lill, Christina M.; Liu, Tian; Schjeide, Brit-Maren M.; Roehr, Johannes T.; Akkad, Denis A.; Damotte, Vincent; Alcina, Antonio; Ortiz, Miguel A.; Arroyo, Rafa; Lopez de Lapuente, Aitzkoa; Blaschke, Paul; Winkelmann, Alexander; Gerdes, Lisa-Ann; Luessi, Felix; Fernadez, Oscar; Izquierdo, Guillermo; Antigüedad, Alfredo; Hoffjan, Sabine; Cournu-Rebeix, Isabelle; Gromöller, Silvana; Faber, Hans; Liebsch, Maria; Meissner, Esther; Chanvillard, Coralie; Touze, Emmanuel; Pico, Fernando; Corcia, Philippe; Dörner, Thomas; Steinhagen-Thiessen, Elisabeth; Baeckman, Lars; Heekeren, Hauke R.; Li, Shu-Chen; Lindenberger, Ulman; Chan, Andrew; Hartung, Hans-Peter; Aktas, Orhan; Lohse, Peter; Kümpfel, Tania; Kubisch, Christian; Epplen, Jörg T.; Zettl, Uwe K.; Fontaine, Bertrand; Vandenbroeck, Koen; Matesanz, Fuencisla; Urcelay, Elena; Bertram, Lars; Zipp, Frauke (September 2012): Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjects. In: Journal of medical genetics, Vol. 49, Nr. 9: S. 558-562
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Abstract

Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently.