Identification of a Novel C5L2 variant (S323I) in a French Canadian family with familial combined hyperlipemia

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 26, Issue 7, 2006, Pages 1619-1625

  Marcil, Michel ^e   Vu, Hai ^b   Cui, Wei ^a,b   Dastani, Zari ^b   Engert, James C ^b   Gaudet, Daniel ^c   Castro Cabezas, Manuel ^d   Sniderman, Allan D ^b   Genest, Jacques ^b   Cianflone, Katherine ^a,b  

^a LAVAL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d SINT FRANCISCUS GASTHUIS   (Netherlands)

^e Centre de Recherche Hôpital Laval Y2186 ^*

Author keywords

Acylation stimulating protein; Adipose; C3adesArg; G protein coupled receptor; Gene defect; Hyperapolipoprotein B; Triglyceride synthesis

Indexed keywords

ACYLATION STIMULATING PROTEIN; ACYLATION STIMULATING PROTEIN RECEPTOR; APOLIPOPROTEIN B; CHOLESTEROL; GLUCOSE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; PROTEIN C5L2; TRIACYLGLYCEROL; UNCLASSIFIED DRUG; CHEMOKINE RECEPTOR; COMPLEMENT COMPONENT C3; GPR77 PROTEIN, HUMAN; LIPID;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CANADA; CARBOXY TERMINAL SEQUENCE; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DRUG ACTIVITY; FAMILIAL HYPERLIPEMIA; FEMALE; FLUORESCENCE POLARIZATION; GENE SEQUENCE; GENOTYPE; GLUCOSE TRANSPORT; HETEROZYGOSITY; HUMAN; HYPERLIPOPROTEINEMIA; MALE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SYNTHESIS; TRIACYLGLYCEROL BLOOD LEVEL; WILD TYPE; AMINO ACID SEQUENCE; BIOSYNTHESIS; BLOOD; ETHNOLOGY; FRANCE; GENETIC VARIABILITY; GENETICS; HETEROZYGOTE; METABOLISM; MIDDLE AGED; PEDIGREE; TRANSPORT AT THE CELLULAR LEVEL;

ADULT; ALLELES; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BIOLOGICAL TRANSPORT; CANADA; COMPLEMENT C3; FEMALE; FRANCE; GLUCOSE; HETEROZYGOTE; HUMANS; HYPERLIPIDEMIA, FAMILIAL COMBINED; LIPIDS; MALE; MIDDLE AGED; PEDIGREE; QUEBEC; RECEPTORS, CHEMOKINE; TRIGLYCERIDES; VARIATION (GENETICS);

EID: 33745953646     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.ATV.0000222907.72985.0b     Document Type: Article

References (30)

1. Sniderman A, Shapiro S, Marpole D, Skinner B, Teng B, Kwiterovich PO Jr. Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins]. Proc Natl Acad Sci U S A. 1980;77:604-608.
2. Sniderman AD, Furberg CD, Keech A, Roeters van Lennep JE, Frohlich J, Jungner I, Walldius G. Apolipoproteins versus lipids as indices of coronary risk and as targets for statin treatment. Lancet. 2003;361:777-780.
3. Teng B, Sniderman AD, Soutar AK, Thompson GR. Metabolic basis of hyperapobetalipoproteinemia. Turnover of apolipoprotein B in low density lipoprotein and its precursors and subfractions compared with normal and familial hypercholesterolemia. J Clin Invest. 1986;77:663-672.
4. Teng B, Thompson GR, Sniderman AD, Forte TM, Krauss RM, Kwiterovich PO. Composition and distribution of low density lipoprotein fractions in hyperapobetalipoproteinaemia, normolipidaemia and familial hypercholesterolaemia. Proc Natl Acad Sci U S A. 1983;80:6662-6666.
5. Genest JJ, Jr., Martin-Munley S, McNamara JR, Ordovas JM, Jenner J, Myers RH, Silberman SR, Wilson PW, Salem DN, Schaefer EJ. Familial lipoprotein disorders in patients with premature coronary artery disease. Circulation. 1992;85:2025-2033.
6. Carr MC, Brunzell JD. Abdominal obesity and dyslipidemia in the metabolic syndrome: importance of type 2 diabetes and familial combined hyperlipidemia in coronary artery disease risk. J Clin Endocrinol Metab. 2004;89:2601-2607.
7. Genest J, Sniderman AD, Cianflone K, Teng B, Wacholder S, Marcel YL, Kwiterovich PO Jr. Hyperapobetalipoproteinemia: plasma lipoprotein responses to oral fat load. Arteriosclerosis. 1986;6:297-304.
8. Castro-Cabezas M, DeBruin TWA, DeValk HW, Shoulders CC, Jansen H, Erkelens DW. Impaired fatty acid metabolism in familial combined hyperlipidemia. A mechanism associating hepatic apolipoprotein B overproduction and insulin resistance. J Clin Invest. 1993;92:160-168.
9. 2 heterogeneity. NIH Publication. 1987;87-2646.
10. Zhang Z, Cianflone K, Sniderman AD. Role of cholesterol ester mass in regulation of secretion of ApoB100 lipoprotein particles by hamster hepatocytes and effects of statins on that relationship. Arterioscler Thromb Vasc Biol. 1999;19:743-752.
11. Cianflone K, Xia Z, Chen LY. Critical review of acylation stimulating protein physiology in humans and rodents. Biochim Biophys Acta. 2003;1609:127-143.
12. Maslowska M, Wang HW, Cianflone K. Novel roles for acylation stimulating protein/C3adesArg: a review of recent in vitro and in vivo evidence. Vitam Horm. 2005;70:309-332.
13. Faraj M, Sniderman AD, Cianflone K. ASP enhances in situ lipoprotein lipase activity by increasing fatty acid trapping in adipocytes. J Lipid Res. 2004;45:657-666.
14. Cianflone K, Zakarian R, Couillard C, Delplanque B, Despres JP, Sniderman AD. Fasting acylation stimulating protein is predictive of postprandial triglyceride clearance. J Lipid Res. 2004;45:124-131.
15. Zhang XJ, Cianflone K, Genest J, Sniderman AD. Plasma acylation stimulating protein (ASP) as a predictor of impaired cellular biological response to ASP in patients with hyperapoB. Eur J Clin Invest. 1998;28:730-739.
16. Kalant D, Cain SA, Maslowska M, Sniderman AD, Cianflone K, Monk PN. The chemoattractant receptor-like protein C5L2 binds the C3a des-Arg77/acylation- stimulating protein. J Biol Chem. 2003;278:11123-11129.
17. Baldo A, Sniderman AD, St. Luce S, Zhang XJ, Cianflone K. Signal transduction pathway of acylation stimulating protein: involvement of protein kinase C. J Lipid Res. 1995;36:1415-1426.
18. Kalant D, Maclaren R, Cui W, Samanta R, Monk PN, Laporte SA, Cianflone K. C5L2 is a functional receptor for acylation stimulating protein. J Biol Chem. 2005;280:23936-23944.
19. Huerta-Vazquez A, Aguilar-Salinas C, Lusis AJ, Cantor RM, Canizales-Quinteros S, Lee JC, Mariana-Nunez L, Laura Riba-Ramirez RM, Jokiaho A, Tusie-Luna T, Pajukanta P. Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1. Arterioscler Thromb Vasc Biol. 2005;25:1985-1991.
20. Aouizerat BE, Allayee H, Cantor RM, Davis RC, Lanning CD, Wen PZ, Dallinga-Thie GM, de Bruin TW, Rotter JI, Lusis AJ. A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11. Am J Hum Genet. 1999;65:397-412.
21. An P, Teran-Garcia M, Rice T, Rankinen T, Weisnagel SJ, Bergman RN, Boston RC, Mandel S, Stafanovski D, Leon AS, Skinner JS, Rao DC, Bouchard C. Genome-wide linkage scans for prediabetes phenotypes in response to 20 weeks of endurance exercise training in non-diabetic whites and blacks: the HERITAGE Family Study. Diabetologia. 2005;48:1142-1149.
22. Chiu YF, Chuang LM, Hsiao CF, Hung YJ, Lin MW, Chen YT, Grove J, Jorgenson E, Quertermous T, Risch N, Hsiung CA. An autosomal genome-wide scan for loci linked to pre-diabetic phenotypes in nondiabetic Chinese subjects from the Stanford Asia-Pacific Program of Hypertension and Insulin Resistance Family Study. Diabetes. 2005;54:1200-1206.
23. Weber M, McNicoll S, Marcil M, Connelly P, Lussier-Cacan S, Davignon J, Latour Y, Genest J Jr. Metabolic factors clustering, lipoprotein cholesterol, apolipoprotein B, lipoprotein (a) and apolipoprotein E phenotypes in premature coronary artery disease in French Canadians. Can J Cardiol. 1997;13:253-260.
24. Maslowska M, Vu H, Phelis S, Sniderman AD, Rhode BM, Blank D, Cianflone K. Plasma acylation stimulating protein, adipsin and lipids in non-obese and obese populations. Eur J Clin Invest. 1999;29:679-686.
25. Cianflone K, Maslowska M, Sniderman AD. Impaired response to fibroblasts in patients with hyperapobetalipoproteinemia to acylation stimulating protein. J Clin Invest. 1990;85:722-730.
26. Murray I, Parker RA, Kirchgessner TG, Tran J, Zhang ZJ, Westerlund J, Cianflone K. Functional bioactive recombinant acylation stimulating protein is distinct from C3a anaphylatoxin. J Lipid Res. 1997;38:2492-2501.
27. Department of Health and Human Services, Public Health Service. The lipid research clinics population studies data book: The Prevalence Study. 1, 28-81. 1980. Washington, D.C., NIH publication 80-1527.
28. Vazquez-Prado J, Casas-Gonzalez P, Garcia-Sainz JA. G protein-coupled receptor cross-talk: pivotal roles of protein phosphorylation and protein-protein interactions. Cell Signal. 2003;15:549-557.
29. Cianflone K. Acylation stimulating protein and triacylglycerol synthesis: potential drug targets? Curr Pharm Dis. 2003;9:1397-1410.
30. Persson L, Boren J, Robertson AK, Wallenius V, Hansson GK, Pekna M. Lack of complement factor C3, but not factor B, increases hyperlipidemia and atherosclerosis in apolipoprotein E-/- low-density lipoprotein receptor -/- mice. Arterioscler Thromb Vasc Biol. 2004;24:1062-1067.