Objective—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).Methods and Results—The combined hypolipidemia cut-offs were chosen according to total cholesterol and HDL-cholesterol levels reported in the ANGPTL3 kindred described to date: total cholesterol levels, 2nd percentile and HDL-cholesterol, levels 2nd decile. Seventy-eight subjects with combined hypolipidemia were analyzed for ANGPTL3 and APOB genes. We identified nonsense and/or missense mutations in ANGPTL3 gene in 8 subjects; nomutations of the APOB gene were found. Mutated ANGPTL3 homozygous/compound heterozygous subjects showed amore severe biochemical phenotype compared to heterozygous or ANGPTL3 negative subjects, although ANGPTL3 heterozygotes did not differ from ANGPTL3 negative subjects.Conclusion—these results demonstrated that in a cohort of subjects with severe primary hypobetalipoproteinemia the prevalence of ANGPTL3 gene mutations responsible for a combined hypolipidemia phenotype is about 10%, whereas mutations of APOB gene are absent.
|Data di pubblicazione:||2012|
|Titolo:||Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia.|
|Autore/i:||D. Noto; A.B. Cefalù; V. Valenti; F. Fayer; E. Pinotti; M. Ditta; R. Spina; G. Vigna; P. Yue; S. Kathiresan; P. Tarugi; M.R. Averna.|
|Digital Object Identifier (DOI):||10.1161/ATVBAHA.111.238766|
|Codice identificativo ISI:||WOS:000300639300037|
|Codice identificativo Scopus:||2-s2.0-84857641121|
|Citazione:||Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia / D. Noto; A.B. Cefalù; V. Valenti; F. Fayer; E. Pinotti; M. Ditta; R. Spina; G. Vigna; P. Yue; S. Kathiresan; P. Tarugi; M.R. Averna.. - In: ARTERIOSCLEROSIS, THROMBOSIS, AND VASCULAR BIOLOGY. - ISSN 1079-5642. - STAMPA. - 32(2012), pp. 805-809.|
|Tipologia||Articolo su rivista|
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