Article
Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.
International journal of molecular sciences - 25 Nov 2024
Blokhina Anastasia V, Ershova Alexandra I, Kiseleva Anna V, Sotnikova Evgeniia A, Zharikova Anastasia A, Zaicenoka Marija, Vyatkin Yuri V, Ramensky Vasily E, Kutsenko Vladimir A, Garbuzova Elizaveta V, Divashuk Mikhail G, Litinskaya Olga A, Pokrovskaya Maria S, Shalnova Svetlana A, Meshkov Alexey N, Drapkina Oxana M
Abstract excerpt
Familial dysbetalipoproteinemia (FD) is a highly atherogenic, prevalent genetically based lipid disorder. About 10% of FD patients have rare APOE variants associated with autosomal dominant FD. However, there are insufficient data on the relationship between rare APOE variants and FD. Genetic data from 4720 subjects were used to identify rare APOE variants and investigate their pathogenicity for autosomal...
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