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The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.

Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

Noto, Davide, Cefalù, Angelo B., Valenti, Vincenza, Fayer, Francesca, Pinotti, Elisa, Ditta, Mariangela, Spina, Rossella, Vigna, Giovanni, Yue, Pin, Kathiresan, Sekar, Tarugi, Patrizia, Averna, Maurizio R.·2012·Arteriosclerosis, Thrombosis, and Vascular Biology
DOI 10.1161/atvbaha.111.238766
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Abstract

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; no mutations of the APOB gene were found. Mutated ANGPTL3 homozygous/compound heterozygous subjects showed a more 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.

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  • Mice and humans lacking ANGPTL3 have lower plasma cholesterol levels.

    “In addition to decreased plasma triglycerides, mice and humans lacking ANGPTL3 also have lower plasma cholesterol levels (16, 18, 106, 108, 109, 116–118).”

    From Regulation of lipoprotein metabolism by ANGPTL3, ANGPTL4, and ANGPTL8 (2021) · cites this paper as [117]

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Research works printed but not linked: 13

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  2. 10.1007/s00018-005-4473-0 · DOI
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  7. Romeo S, Yin W, Kozlitina J, Pennacchio LA, Boerwinkle E, Hobbs HH, Cohen JC . Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans. J Clin Invest. 2009; 119: 70– 79.
  8. 10.1016/j.atherosclerosis.2007.05.003 · DOI
  9. 10.1016/j.atherosclerosis.2010.10.050 · DOI
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  11. 10.1074/jbc.M203215200 · DOI · Paper page
  12. 10.1258/acb.2010.009307 · DOI
  13. 10.1161/01.atv.0000252827.51626.89 · DOI · Paper page

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Metadata

Authors
Noto, D., Cefalù, A. B., Valenti, V., Fayer, F., Pinotti, E., Ditta, M., Spina, R., Vigna, G., Yue, P., Kathiresan, S., Tarugi, P., & Averna, M. R.
Affiliations
From the Department of Internal Medicine and Medical Specialties (D.N., A.B.C., V.V., F.F., M.D., R.S., M.R.A.), University of Palermo, Italy; Department of Biomedical Sciences (E.P., P.T.), University of Modena &amp; Reggio Emilia, Italy; Department of Clinical and Experimental Medicine (G.V.), University of Ferrara, Ferrara, Italy; School of Medicine, Washington University, St. Louis, MO (P.Y.); Cardiovascular Research Center and Center for Human Genetic Research (S.K.), Massachusetts General...
Venue
Arteriosclerosis, Thrombosis, and Vascular Biology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2012-03
Volume
32
Issue
3
Pages
805-809
ISSN
  • 1079-5642
  • 1524-4636
DOI
10.1161/atvbaha.111.238766
Cited by
81
References
5
Language
en

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