Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 28, Issue 6, 2008, Pages 1193-1199

  Mar Heyming, Rebecca ^a   Miyazaki, Makoto ^b   Weissglas Volkov, Daphna ^a   Kolaitis, Nicholas A ^a   Sadaat, Narimaan ^a   Plaisier, Christopher ^a   Pajukanta, Päivi ^a   Cantor, Rita M ^a   De Bruin, Tjerk W A ^c   Ntainbi, James M ^b   Lusis, Aidons J ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

^c MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Familial combined hyperlipidemia; Genetics; Hepatocyte nuclear factor 4 alpha; Peroxisome proliferator activated receptor gamma; Stearoyl coa desaturase

Indexed keywords

ACYL COENZYME A DESATURASE; HEPATOCYTE NUCLEAR FACTOR 4ALPHA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; FATTY ACID; HEPATOCYTE NUCLEAR FACTOR 4; HNF4A PROTEIN, HUMAN; SCD1 PROTEIN, HUMAN;

ADULT; ARTICLE; CHROMOSOME 20P; CHROMOSOME 3P; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSLIPIDEMIA; ENZYME ACTIVITY; FAMILIAL HYPERLIPEMIA; FATTY ACID DESATURATION; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC TRAIT; HAPLOTYPE; HERITABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEASUREMENT; PEDIGREE; PRIORITY JOURNAL; SIBLING; THORAX DEFORMITY; CHROMOSOME MAP; ENZYMOLOGY; GENE LINKAGE DISEQUILIBRIUM; GENETICS; METABOLISM; MIDDLE AGED;

ADULT; CHROMOSOME MAPPING; DYSLIPIDEMIAS; FATTY ACIDS; FEMALE; HAPLOTYPES; HEPATOCYTE NUCLEAR FACTOR 4; HUMANS; HYPERLIPIDEMIA, FAMILIAL COMBINED; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; PEDIGREE; PPAR GAMMA; STEAROYL-COA DESATURASE;

EID: 44849099288     PISSN: 10795642     EISSN: None     Source Type: Journal    
DOI: 10.1161/ATVBAHA.107.160150     Document Type: Article

References (39)

1. Enoch HG, Cátala A, Strittmatter P. Mechanism of rat liver microsomal stearyl-CoA desaturase. Studies of the substrate specificity, enzymesubstrate interactions, and the function of lipid. J Biol Chem. 1976;251: 5095-5103.
2. Ntambi JM, Miyazaki. M. Recent insights into stearoyl-CoA desaturase-1. Curr Opin Lipidol. 2003;14:255-261.
3. Goldstein JL, Schrott HG, Hazzard WR, Bierman EL, Motulsky AG. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest. 1973;52:1544-1568.
4. Shoulders CC, Jones EL, Naoumova RP. Genetics of familial combined hyperlipidemia and risk of coronary heart disease. Hum Mol Genet. 2004;13 Spec No 1:R149-60.
5. Badzioch MD, Igo RP Jr, Gagnon F, Brunzell JD, Krauss RM, Motulsky AG, Wijsman EM, Jarvik GP. Low-density lipoprotein particle size loci. in familial combined hyperlipidemia: evidence for multiple loci from a genome scan. Arterioscler Thromb Vase Biol. 2004;24:1942-1950.
6. Attie AD, Krauss RM, Gray-Keller MP, Brownlie A, Miyazaki M, Kastelein JJ, Lusis AJ, Stalenhoef AF, Stoehr JP, Hayden MR, Ntambi JM. Relationship between stearoyl-CoA desaturase activity and plasma triglycerides in human and mouse hypertriglyceridemia. ,J Lipid Res. 2002;43:1899-1907.
7. Daiiinga-Thie GM, Bu XD, van Linde-Sibenius Trip M, Rotter JI, Lusis AJ, de Bruin TW. Apolipoprotein A-I/C-III/A-IV gene cluster in familial combined hyperlipidemia: effects on LDL-cholesterol and apolipoproteins B and C-III. J Lipid Res. 1996;37:136-147.
8. AImasy L, Blangero J. Multipoint quantitative-trait linkage analysis in general pedigrees. Am. J Hum Genet. 1998;62:1198-1211.
9. SAS Institute I SAS/STAT User's Guide. Cary, NC, USA: SAS Institute, Inc.; 1.999-2000.
10. Kruglyak L, Lander ES. Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet. 1995;57:439 454.
11. Horvath S, Xu X, Lake SL, Silverman EK, Weiss ST, Laird NM. Family-based tests for associating haplotypes with, general phenotype data: application to asthma genetics. Genet Epidemiol. 2004;26:61 69.
12. O'Connell JR, Weeks DE. PedCheck: a program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet. 1998; 63:259-266.
13. Carter KW, McCaskie PA, Palmer LJ. JLIN: a java based linkage disequilibrium plotter. BMC Bioinformatics. 2006;7:60.
14. Hulver MW, Berggren JR, Carper MJ, Miyazaki M, Ntambi. JM, Hoffman EP, Thyfault JP, Stevens R, Dohm GL, Houmard JA, Muoio DM. Elevated stearoyl-CoA desaturase-1 expression in skeletal muscle contributes to abnormal fatty acid partitioning in obese humans. Cell. Metab. 2005;2:251-261.
15. Okada T, Furuhashi N, Kuromori Y, Miyashita M, Iwata F, Harada K. Plasma palmitoleic acid content and obesity in children. Am J Clin Nutr. 2005;82:747 750.
16. Warensjo E, Riserus U, Vessby B. Fatty acid, composition of serum lipids predicts the development of the metabolic syndrome in men. Diabetologia. 2005;48:1999-2005.
17. Warensjo E, Ohrvall M, Vessby B. Fatty acid, composition and estimated desaturase activities are associated with obesity and lifestyle variables in men and women. Nutr Metab Cardiovasc Dis. 2006;16:128-136.
18. Warensjo E, Ingelsson E, Lundmark P, Lannfelt L, Syvanen AC, Vessby B, Riserus U. Polymorphisms in the SCDl gene: associations with body fat distribution and insulin sensitivity. Obesity (Silver Spring). 2007;15: 1732-1740.
19. Eurlings PM, van der Kallen CJ, Vermeiden VM, de Bruin TW. Variants in the PPARgamma gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia. Mol Genet Metab. 2003;80:296 301.
20. Weissglas-Volkov D, Huertas-Vazquez A, Suviolaliti E, Lee J, Plaisier C, Canizales-Quinteros S, Tusie-Luna T, Aguilar-Salinas C, Taskinen MR, Pajukanta P. Common hepatic nuclear factor-4alpha variants are associated with high serum lipid levels and the metabolic syndrome. Diabetes. 2006;55:1970-1977.
21. Pajukanta P, Nuotio I, Terwilliger JD, Porkka KV, Ylitalo K, Pihlajamaki J, Suomalainen AJ, Syvanen AC, Lehtimaki T, Viikari JS, Laakso M, Taskinen MR, Ehnholm C, Peltonen L. Linkage of familial combined hyperlipidaemia to chromosome Iq21-q23. Nat Genet. 1998;18:369-373.
22. Soro A, Pajukanta P, Lilja HE, Ylitalo K, Hiekkalinna T, Perola M, Cantor RM, Viikari JS, Taskinen MR, Peltonen L. Genome scans provide evidence for low-HDL-C loci on chromosomes 8q23, 16q24.1-24.2, and 20ql3.ll in Finnish families. Am J Hum Genet. 2002;70:1333-1340.
23. Aouizerat BE, Allayee H, Bodnar J, Krass KL, Peltonen L, de Bruin TW, Rotter JI, Lusis AJ. Novel genes for familial combined hyperlipidemia. Curr Opin Lipidol. 1999;10:113 122.
24. Riserus U, Tan GD, Fielding BA, Neville MJ, Currie J, Savage DB, Chatterjee VK, Frayn KN, O'Rahilly S, Karpe F. Rosiglitazone increases indexes of stearoyl-CoA desaturase activity in humans: link to insulin sensitization and the role of dominant-negative mutation in peroxisome proliferator-activated receptor-gamma. Diabetes. 2005;54:1379-1384.
25. Kim YC, Gomez FE, Fox BG, Ntambi JM. Differential regulation of the stearoyl-CoA desaturase genes by thiazolidinediones in 3T3-L1 adipocytes. J Lipid Res. 2000;41:1310-1316.
26. Kurebayashi S, Hirose T, Miyashita Y, Kasayama S, Kishimoto T. Thiazolidinediones downregulate stearoyl-CoA desaturase 1 gene expression in 3T3-L1 adipocytes. Diabetes. 1997;46:2115-2118.
27. Pihlajamaki J, Miettinen R, Valve R, Karjalainen L, Mykkanen L, Kuusisto .1, Deeb S, Auwerx J, Laakso M. The Prol.2A'la substitution in the peroxisome proliferator activated receptor gamma 2 is associated with, an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia. Atherosclerosis. 2000;151:567-574.
28. Lilja HE, Suviolahti E, Soro-Paavonen A, Hiekkalinna T, Day A, Lange K, Sobel E, Taskinen MR, Peltonen L, Perola M, Pajukanta P. Locus for quantitative HDL-cholesteroI on chromosome 10q in Finnish families with dyslipidemia. J Lipid Res. 2004;45:1876-1884.
29. Hertz, R, Magenheim J, Berman I, Bar-Tana J. Fatty acyl-CoA thioesters are ligands of hepatic nuclear factor-4alpha. Nature. 1998;392:512-516.
30. Pearson ER, Pruhova S, Tack CJ, Johansen A, Castleden HA, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S, Hansen T, Hattersley AT. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Diabetologia. 2005;48:878 885.
31. Love-Gregory L, Permutt MA. HNF4A genetic variants: role in diabetes. Curr Opin Clin Nutr Metab Care. 2007;10:397-402.
32. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease. Nat Genet. 2003;33 Suppl:228 -37.
33. Cohen P, Friedman JM. Leptin and the control, of metabolism.: role for stearoyl-CoA desaturase-1 (SCD-I). J Nutr. 2004;1.34:2455S-2463S.
34. Dobrzyn P, Dobrzyn A, Miyazaki M, Cohen P, Asilmaz E, Hardie DG, Friedman JM, Ntambi JM. Stearoyl-CoA desaturase 1 deficiency increases fatty acid oxidation by activating AMP-activated protein kinase in liver. Proc Natl Acad Sci USA. 2004;101:6409-6414.
35. Ntambi JM, Miyazaki M, Dobrzyn A. Regulation of stearoyl-CoA desaturase expression. Lipids. 2004;39:1061 1065.
36. Dobrzyn A, Dobrzyn P, Lee SH, Miyazaki M, Cohen P, Asilmaz E, Hardie DG, Friedman JM, Ntambi. JM. Stearoyl-CoA desaturase-1 deficiency reduces ceramide synthesis by downregulating serine palmitoyltransferase and increasing beta-oxidation in skeletal muscle. Am J Physiol Endocrinol Metab. 2005;288:E599-E607.
37. van der Kallen CJ, Voors-Pette C, Bouwman FG, Keizer HA, Lu JY, van de Hulst RR, Bianchi R, Janssen MJ, Keulen ET, Boeckx WD, Rotter JI, de Bruin TW. Evidence of insulin resistant lipid metabolism in adipose tissue in familial combined hyperlipidemia, but not type 2 diabetes mellitus. Atherosclerosis. 2002;164:337-346.
38. de Brain TW, Georgieva AM, Brouwers MC, Heitink MV, van der Kallen CJ, van Greevenbroek MM. Radiological evidence of nonalcoholic fatty liver disease in familial combined hyperlipidemia. Am J Med. 2004;116: 847-849.
39. Castro Cabezas M, de Bruin TW, de Valk HW, Shoulders CC, Jansen H, Willem Erkelens D. 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.