Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia

Circulation Research

Volumn 115, Issue 6, 2014, Pages 552-555

  Fouchier, Sigrid W ^a   Dallinga Thie, Geesje M ^a   Meijers, Joost C M ^b   Zelcer, Noam ^a   Kastelein, John J P ^a   Defesche, Joep C ^a   Hovingh, G Kees ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b SANQUIN RESEARCH   (Netherlands)

Author keywords

autosomal dominant; human; hypercholesterolemia; physical chromosome mapping; STAP1 gene

Indexed keywords

CHOLESTEROL; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PROTEIN; SIGNAL TRANSDUCING ADAPTOR FAMILY MEMBER 1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA; CARDIOVASCULAR RISK; CHOLESTEROL BLOOD LEVEL; CHOLESTEROL METABOLISM; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CARRIER; EXOME; FAMILIAL HYPERCHOLESTEROLEMIA; FAMILIAL HYPERCHOLESTEROLEMIA 4; FAMILY ASSESSMENT; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HYPERCHOLESTEROLEMIA; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCING ADAPTOR FAMILY MEMBER 1 GENE;

HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT; PHYSICAL CHROMOSOME MAPPING; STAP1 GENE, HUMAN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; APOLIPOPROTEINS B; FEMALE; GENETIC LINKAGE; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; LIPID METABOLISM; MALE; MIDDLE AGED; MUTATION; PROPROTEIN CONVERTASES; RECEPTORS, LDL; SERINE ENDOPEPTIDASES;

EID: 84907140876     PISSN: 00097330     EISSN: 15244571     Source Type: Journal    
DOI: 10.1161/CIRCRESAHA.115.304660     Document Type: Article

References (23)

1. Nordestgaard BG, Chapman MJ, Humphries SE, et al; European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: Guidance for clinicians to prevent coronary heart disease: Consensus statement of the European Atherosclerosis Society. Eur Heart J. 2013;34:3478-3490.
2. Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP. The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet. 2001;109:602-615.
3. Fouchier SW, Kastelein JJ, Defesche JC. Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat. 2005; 26:550-556.
4. Fouchier SW, Defesche JC, Kastelein JJ, Sijbrands EJ. Familial defective apolipoprotein B versus familial hypercholesterolemia: An assessment of risk. Semin Vasc Med. 2004;4:259-264.
5. Abifadel M, Varret M, Rabès JP, et al. Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet. 2003;34:154-156.
6. Varret M, Abifadel M, Rabès JP, Boileau C. Genetic heterogeneity of autosomaldominant hypercholesterolemia. Clin Genet. 2008;73:1-13.
7. Altmüller J, Palmer LJ, Fischer G, Scherb H, Wjst M. Genomewide scans of complex human diseases: True linkage is hard to find. Am J Hum Genet. 2001;69:936-950.
8. Huijgen R, Kindt I, Fouchier SW, Defesche JC, Hutten BA, Kastelein JJ, Vissers MN. Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Hum Mutat. 2010;31:752-760.
9. Huijgen R, Hutten BA, Kindt I, Vissers MN, Kastelein JJ. Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: A cross-sectional study in 26,406 individuals tested for genetic FH. Circ Cardiovasc Genet. 2012;5:354-359.
10. Fung HC, Scholz S, Matarin M, et al. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: First stage analysis and public release of data. Lancet Neurol. 2006;5:911-916.
11. Huang X, Auinger P, Eberly S, Oakes D, Schwarzschild M, Ascherio A, Mailman R, Chen H; Parkinson Study Group DATATOP Investigators. Serum cholesterol and the progression of Parkinson's disease: Results from DATATOP. PLoS One. 2011;6:e22854.
12. Masuhara M, Nagao K, Nishikawa M, Sasaki M, Yoshimura A, Osawa M. Molecular cloning of murine STAP-1, the stem-cell-specific adaptor protein containing PH and SH2 domains. Biochem Biophys Res Commun. 2000;268:697-703.
13. Koytiger G, Kaushansky A, Gordus A, Rush J, Sorger PK, MacBeath G. Phosphotyrosine signaling proteins that drive oncogenesis tend to be highly interconnected. Mol Cell Proteomics. 2013;12:1204-1213.
14. Hatanaka K, Tanishita H, Ishibashi-Ueda H, Yamamoto A. Hyperlipidemia in mast cell-deficient W/WV mice. Biochim Biophys Acta. 1986;878:440-445.
15. Smith ER, Yeasky T, Wei JQ, Miki RA, Cai KQ, Smedberg JL, Yang WL, Xu XX. White spotting variant mouse as an experimental model for ovarian aging and menopausal biology. Menopause. 2012;19:588-596.
16. Blume-Jensen P, Hunter T. Oncogenic kinase signalling. Nature. 2001;411:355-365.
17. Gilbert HS, Ginsberg H, Fagerstrom R, Brown WV. Characterization of hypocholesterolemia in myeloproliferative disease. Relation to disease manifestations and activity. Am J Med. 1981;71:595-602.
18. Naik PP, Ghadge MS, Raste AS. Lipid profile in leukemia and Hodgkin's disease. Indian J Clin Biochem. 2006;21:100-102.
19. Yavasoglu I, Tombuloglu M, Kadikoylu G, Donmez A, Cagirgan S, Bolaman Z. Cholesterol levels in patients with multiple myeloma. Ann Hematol. 2008;87:223-228.
20. Allampallam K, Dutt D, Nair C, Shetty V, Mundle S, Lisak L, Andrews C, Ahmed B, Mazzone L, Zorat F, Borok R, Muzammil M, Gundroo A, Ansaarie I, Raza A. The clinical and biologic significance of abnormal lipid profiles in patients with myelodysplastic syndromes. J Hematother Stem Cell Res. 2000;9:247-255.
21. Pandolfino J, Hakimian D, Rademaker AW, Tallman MS. Hypocholesterolemia in hairy cell leukemia: A marker for proliferative activity. Am J Hematol. 1997;55:129-133.
22. Kim TD, Rea D, Schwarz M, et al. Peripheral artery occlusive disease in chronic phase chronic myeloid leukemia patients treated with nilotinib or imatinib. Leukemia. 2013;27:1316-1321.
23. Rea D, Mirault T, Cluzeau T, Gautier JF, Guilhot F, Dombret H, Messas E. Early onset hypercholesterolemia induced by the 2nd-generation tyrosine kinase inhibitor nilotinib in patients with chronic phase-chronic myeloid leukemia. Haematologica. 2014;99:1197-1203.