Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
- Autori: Noto, D.; Cefalu', A.; Valenti, V.; Fayer, F.; Pinotti, E.; Ditta, M.; Spina, R.; Vigna, G.; Yue, P.; Kathiresan, S.; Tarugi, P.; Averna, M.
- Anno di pubblicazione: 2012
- Tipologia: Articolo in rivista (Articolo in rivista)
- OA Link: http://hdl.handle.net/10447/73838
Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol<5th percentile).