Unraveling the complex genetics of familial combined hyperlipidemia

References

• Rose H. G., Kranz P., Weinstock M., Juliano J., Haft J. I. Inheritance of combined hyperlipoproteinemia: evidence for a new lipoprotein phenotype. Am J Med 1973; 54: 148–60
   Google Scholar
• Nikkila E. A., Aro A. Family study of serum lipids and lipoproteins in coronary heart‐disease. Lancet 1973; 1: 954–9
   PubMed Web of Science ®Google Scholar
• Goldstein J. L., Schrott H. G., Hazzard W. R., Bierman E. L., Motulsky A. G. 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: 1544–68
   PubMed Web of Science ®Google Scholar
• Hopkins P. N., Heiss G., Ellison R. C., Province M. A., Pankow J. S., Eckfeldt J. H., et al. Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case‐control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. Circulation 2003; 108: 519–23
   PubMed Web of Science ®Google Scholar
• Vakkilainen J., Porkka K. V., Nuotio I., Pajukanta P., Suurinkeroinen L., Ylitalo K., et al. Glucose intolerance in familial combined hyperlipidaemia. EUFAM study group. Eur J Clin Invest 1998; 28: 24–32
   Google Scholar
• Aro A. Serum lipids and lipoproteins in first degree relatives of young survivors of myocardial infarction. Acta Med Scand Suppl 1973; 553: 1–103
   Google Scholar
• de Graaf J., Stalenhoef A. F. Defects of lipoprotein metabolism in familial combined hyperlipidaemia. Curr Opin Lipidol 1998; 9: 189–96
   PubMed Web of Science ®Google Scholar
• Cullen P., Farren B., Scott J., Farrall M. Complex segregation analysis provides evidence for a major gene acting on serum triglyceride levels in 55 British families with familial combined hyperlipidemia. Arterioscler Thromb 1994; 14: 1233–49
   Google Scholar
• Jarvik G. P., Brunzell J. D., Austin M. A., Krauss R. M., Motulsky A. G., Wijsman E. Genetic predictors of FCHL in four large pedigrees. Influence of ApoB level major locus predicted genotype and LDL subclass phenotype. Arterioscler Thromb 1994; 14: 1687–94
   Google Scholar
• Pajukanta P., Nuotio I., Terwilliger J. D., Porkka K. V., Ylitalo K., Pihlajamaki J., et al. Linkage of familial combined hyperlipidaemia to chromosome 1q21–q23. Nat Genet 1998; 18: 369–73
   PubMed Web of Science ®Google Scholar
• Pajukanta P., Terwilliger J. D., Perola M., Hiekkalinna T., Nuotio I., Ellonen P., et al. Genomewide scan for familial combined hyperlipidemia genes in finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels. Am J Hum Genet 1999; 64: 1453–63
   Google Scholar
• Pajukanta P., Allayee H., Krass K. L., Kuraishy A., Soro A., Lilja H. E., et al. Combined analysis of genome scans of Dutch and Finnish families reveals a susceptibility locus for high‐density lipoprotein cholesterol on chromosome 16q. Am J Hum Genet 2003; 72: 903–17
   PubMedGoogle Scholar
• Aouizerat B. E., Allayee H., Cantor R. M., Dallinga‐Thie G. M., Lanning C. D., de Bruin T. W., et al. Linkage of a candidate gene locus to familial combined hyperlipidemia: lecithin:cholesterol acyltransferase on 16q. Arterioscler Thromb Vasc Biol 1999; 19: 2730–6
   Google Scholar
• Aouizerat B. E., Allayee H., Cantor R. M., Davis R. C., Lanning C. D., Wen P. Z., et al. 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
   Google Scholar
• Allayee H., Krass K. L., Pajukanta P., Cantor R. M., van der Kallen C. J., Mar R., et al. Locus for elevated apolipoprotein B levels on chromosome 1p31 in families with familial combined hyperlipidemia. Circ Res 2002; 90: 926–31
   Google Scholar
• Naoumova R. P., Bonney S. A., Eichenbaum‐Voline S., Patel H. N., Jones B., Jones E. L., et al. Confirmed locus on chromosome 11p and candidate loci on 6q and 8p for the triglyceride and cholesterol traits of combined hyperlipidemia. Arterioscler Thromb Vasc Biol 2003; 23: 2070–7
   Google Scholar
• Pajukanta P., Lilja H. E., Sinsheimer J. S., Cantor R. M., Lusis A. J., Gentile M., et al. Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nat Genet 2004; 36: 371–6
   PubMed Web of Science ®Google Scholar
• Weissglas‐Volkov D., Huertas‐Vazquez A., Suviolahti E., Lee J. C., Plaisier C., Canizales‐Quinteros S., Tusie‐Luna T., et al. Common hepatic nuclear factor 4 alpha variants are associated with high serum lipid levels and the metabolic syndrome. Diabetes 2006; 55: 1970–7
   Google Scholar
• Rada‐Iglesias A., Wallerman O., Koch C., Ameur A., Enroth S., Clelland G., et al. Binding sites for metabolic disease related transcription factors inferred at base pair resolution by chromatin immunoprecipitation and genomic microarrays. Hum Mol Genet 2005; 14: 3435–47
   Google Scholar
• Ribeiro A., Pastier D., Kardassis D., Chambaz J., Cardot P. Cooperative binding of upstream stimulatory factor and hepatic nuclear factor 4 drives the transcription of the human apolipoprotein A‐II gene. J Biol Chem 1999; 274: 1216–25
   PubMedGoogle Scholar
• Pastier D., Lacorte J. M., Chambaz J., Cardot P., Ribeiro A. Two initiator‐like elements are required for the combined activation of the human apolipoprotein C‐III promoter by upstream stimulatory factor and hepatic nuclear factor‐4. J Biol Chem 2002; 277: 15199–206
   Google Scholar
• Frikke‐Schmidt R., Nordestgaard B. G., Jensen G. B., Tybjaerg‐Hansen A. Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population. J Clin Invest 2004; 114: 1343–53
   PubMed Web of Science ®Google Scholar
• Cohen J. C., Kiss R. S., Pertsemlidis A., Marcel Y. L., McPherson R., Hobbs H. H. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 2004; 305: 869–72
   PubMed Web of Science ®Google Scholar
• Pei W., Baron H., Muller‐Myhsok B., Knoblauch H., Al‐Yahyaee S. A., Hui R., et al. Support for linkage of familial combined hyperlipidemia to chromosome 1q21–q23 in Chinese and German families. Clin Genet 2000; 57: 29–34
   Google Scholar
• Coon H., Myers R. H., Borecki I. B., Arnett D. K., Hunt S. C., Province M. A., et al. Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A‐I/C‐III/A‐IV locus. The NHLBI Family Heart Study. Arterioscler Thromb Vasc Biol 2000; 20: 2275–80
   Google Scholar
• Huertas‐Vazquez A., Aguilar‐Salinas C., Lusis A. J., Cantor R. M., Canizales‐Quinteros S., Lee J. C., et al. Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1. Arterioscler Thromb Vasc Biol 2005; 25: 1985–91
   Google Scholar
• Hanson R. L., Ehm M. G., Pettitt D. J., Prochazka M., Thompson D. B., Timberlake D., et al. An autosomal genomic scan for loci linked to type II diabetes mellitus and body‐mass index in Pima Indians. Am J Hum Genet 1998; 63: 1130–8
   PubMed Web of Science ®Google Scholar
• Elbein S. C., Hoffman M. D., Teng K., Leppert M. F., Hasstedt S. J. A genome‐wide search for type 2 diabetes susceptibility genes in Utah Caucasians. Diabetes 1999; 48: 1175–82
   PubMed Web of Science ®Google Scholar
• Vionnet N., Hani El H., Dupont S., Gallina S., Francke S., Dotte S., et al. Genomewide search for type 2 diabetes‐susceptibility genes in French whites: evidence for a novel susceptibility locus for early‐onset diabetes on chromosome 3q27‐qter and independent replication of a type 2‐diabetes locus on chromosome 1q21–q24. Am J Hum Genet 2000; 67: 1470–80
   PubMed Web of Science ®Google Scholar
• Wiltshire S., Hattersley A. T., Hitman G. A., Walker M., Levy J. C., Sampson M., et al. A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet 2001; 69: 553–69
   PubMed Web of Science ®Google Scholar
• Hsueh W. C., St Jean P. L., Mitchell B. D., Pollin T. I., Knowler W. C., Ehm M. G., et al. Genome‐wide and fine‐mapping linkage studies of type 2 diabetes and glucose traits in the Old Order Amish: evidence for a new diabetes locus on chromosome 14q11 and confirmation of a locus on chromosome 1q21–q24. Diabetes 2003; 52: 550–7
   PubMed Web of Science ®Google Scholar
• Watanabe R. M., Ghosh S., Langefeld C. D., Valle T. T., Hauser E. R., Magnuson V. L., et al. The Finland‐United States investigation of non‐insulin‐dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes‐related quantitative‐trait loci. Am J Hum Genet 2000; 67: 1186–200
   PubMed Web of Science ®Google Scholar
• Xiang K., Wang Y., Zheng T., Jia W., Li J., Chen L., et al. Genome‐wide search for type 2 diabetes/impaired glucose homeostasis susceptibility genes in the Chinese: significant linkage to chromosome 6q21–q23 and chromosome 1q21–q24. Diabetes 2004; 53: 228–34
   PubMedGoogle Scholar
• Langefeld C. D., Wagenknecht L. E., Rotter J. I., Williams A. H., Hokanson J. E., Saad M. F., et al. Linkage of the metabolic syndrome to 1q23–q31 in Hispanic families: the Insulin Resistance Atherosclerosis Study Family Study. Diabetes 2004; 53: 1170–4
   Google Scholar
• Liu Y., Nusrat A., Schnell F. J., Reaves T. A., Walsh S., Pochet M., et al. Human junction adhesion molecule regulates tight junction resealing in epithelia. J Cell Sci 2000; 113((Pt 13))2363–74
   Google Scholar
• Barton E. S., Forrest J. C., Connolly J. L., Chappell J. D., Liu Y., Schnell F. J., et al. Junction adhesion molecule is a receptor for reovirus. Cell 2001; 104: 441–51
   PubMed Web of Science ®Google Scholar
• Ostermann G., Weber K. S., Zernecke A., Schroder A., Weber C. JAM‐1 is a ligand of the beta(2) integrin LFA‐1 involved in transendothelial migration of leukocytes. Nat Immunol 2002; 3: 151–8
   PubMed Web of Science ®Google Scholar
• Vallet V. S., Casado M., Henrion A. A., Bucchini D., Raymondjean M., Kahn A., et al. Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose. J Biol Chem 1998; 273: 20175–9
   PubMedGoogle Scholar
• Casado M., Vallet V. S., Kahn A., Vaulont S. Essential role in vivo of upstream stimulatory factors for a normal dietary response of the fatty acid synthase gene in the liver. J Biol Chem 1999; 274: 2009–13
   PubMedGoogle Scholar
• Iynedjian P. B. Identification of upstream stimulatory factor as transcriptional activator of the liver promoter of the glucokinase gene. Biochem J 1998; 333((Pt 3))705–12
   Google Scholar
• Kutz S. M., Higgins C. E., Samarakoon R., Higgins S. P., Allen R. R., Qi L., et al. TGF‐beta‐induced PAI‐1 expression is E box/USF‐dependent and requires EGFR signaling. Exp Cell Res 2006; 312: 1093–105
   Google Scholar
• Yang X. P., Freeman L. A., Knapper C. L., Amar M. J., Remaley A., Brewer H. B., Jr., et al. The E‐box motif in the proximal ABCA1 promoter mediates transcriptional repression of the ABCA1 gene. J Lipid Res 2002; 43: 297–306
   PubMedGoogle Scholar
• Wang D., Sul H. S. Upstream stimulatory factor binding to the E‐box at ‐65 is required for insulin regulation of the fatty acid synthase promoter. J Biol Chem 1997; 272: 26367–74
   PubMedGoogle Scholar
• Botma G. J., Verhoeven A. J., Jansen H. Hepatic lipase promoter activity is reduced by the C‐480T and G‐216A substitutions present in the common LIPC gene variant, and is increased by Upstream Stimulatory Factor. Atherosclerosis 2001; 154: 625–32
   Google Scholar
• Salero E., Gimenez C., Zafra F. Identification of a non‐canonical E‐box motif as a regulatory element in the proximal promoter region of the apolipoprotein E gene. Biochem J 2003; 370((Pt 3))979–86
   Google Scholar
• Nowak M., Helleboid‐Chapman A., Jakel H., Martin G., Duran‐Sandoval D., Staels B., et al. Insulin‐mediated down‐regulation of apolipoprotein A5 gene expression through the phosphatidylinositol 3‐kinase pathway: role of upstream stimulatory factor. Mol Cell Biol 2005; 25: 1537–48
   PubMedGoogle Scholar
• Portois L., Tastenoy M., Viollet B., Svoboda M. Functional analysis of the glucose response element of the rat glucagon receptor gene in insulin‐producing INS‐1 cells. Biochim Biophys Acta 2002; 1574: 175–86
   Google Scholar
• Read M. L., Clark A. R., Docherty K. The helix‐loop‐helix transcription factor USF (upstream stimulating factor) binds to a regulatory sequence of the human insulin gene enhancer. Biochem J 1993; 295((Pt 1))233–7
   Google Scholar
• Martin C. C., Svitek C. A., Oeser J. K., Henderson E., Stein R., O'Brien R. M. Upstream stimulatory factor (USF) and neurogenic differentiation/beta‐cell E box transactivator 2 (NeuroD/BETA2) contribute to islet‐specific glucose‐6‐phosphatase catalytic‐subunit‐related protein (IGRP) gene expression. Biochem J 2003; 371((Pt 3))675–86
   Google Scholar
• Travers M. T., Vallance A. J., Gourlay H. T., Gill C. A., Klein I., Bottema C. B., et al. Promoter I of the ovine acetyl‐CoA carboxylase‐alpha gene: an E‐box motif at ‐114 in the proximal promoter binds upstream stimulatory factor (USF)‐1 and USF‐2 and acts as an insulin‐response sequence in differentiating adipocytes. Biochem J 2001; 359((Pt 2))273–84
   Google Scholar
• Smih F., Rouet P., Lucas S., Mairal A., Sengenes C., Lafontan M., et al. Transcriptional regulation of adipocyte hormone‐sensitive lipase by glucose. Diabetes 2002; 51: 293–300
   Google Scholar
• Naukkarinen J., Gentile M., Soro‐Paavonen A., Saarela J., Koistinen H. A., Pajukanta P., et al. USF1 and dyslipidemias: converging evidence for a functional intronic variant. Hum Mol Genet 2005; 14: 2595–605
   Google Scholar
• Attie A. D., Krauss R. M., Gray‐Keller M. P., Brownlie A., Miyazaki M., Kastelein J. J., et al. Relationship between stearoyl‐CoA desaturase activity and plasma triglycerides in human and mouse hypertriglyceridemia. J Lipid Res 2002; 43: 1899–907
   PubMed Web of Science ®Google Scholar
• Hoffstedt J., Ryden M., Wahrenberg H., van Harmelen V., Arner P. Upstream transcription factor‐1 gene polymorphism is associated with increased adipocyte lipolysis. J Clin Endocrinol Metab 2005; 90: 5356–60
   Google Scholar
• Komulainen K., Alanne M., Auro K., Kilpikari R., Pajukanta P., Saarela J., et al. Risk Alleles of USF1‐Gene Predict Cardiovascular Disease of Women in Two Prospective Studies. PLoS Genetics 2006; 2: e69
   PubMedGoogle Scholar
• Putt W., Palmen J., Nicaud V., Tregouet D. A., Tahri‐Daizadeh N., Flavell D. M., et al. Variation in USF1 shows haplotype effects, gene:gene and gene:environment associations with glucose and lipid parameters in the European Atherosclerosis Research Study II. Hum Mol Genet 2004; 13: 1587–97
   PubMed Web of Science ®Google Scholar
• Coon H., Xin Y., Hopkins P. N., Cawthon R. M., Hasstedt S. J., Hunt S. C. Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides. Hum Genet 2005; 117: 444–51
   PubMedGoogle Scholar
• Ng M. C., Miyake K., So W. Y., Poon E. W., Lam V. K., Li J. K., et al. The linkage and association of the gene encoding upstream stimulatory factor 1 with type 2 diabetes and metabolic syndrome in the Chinese population. Diabetologia 2005; 48: 2018–24
   Google Scholar
• Gibson F., Hercberg S., Froguel P. Common polymorphisms in the USF1 gene are not associated with type 2 diabetes in French Caucasians. Diabetes 2005; 54: 3040–2
   Google Scholar
• Castellani L. W., Weinreb A., Bodnar J., Goto A. M., Doolittle M., Mehrabian M., et al. Mapping a gene for combined hyperlipidaemia in a mutant mouse strain. Nat Genet 1998; 18: 374–7
   Google Scholar
• Bodnar J. S., Chatterjee A., Castellani L. W., Ross D. A., Ohmen J., Cavalcoli J., et al. Positional cloning of the combined hyperlipidemia gene Hyplip1. Nat Genet 2002; 30: 110–6
   PubMed Web of Science ®Google Scholar
• Pajukanta P., Bodnar J. S., Sallinen R., Chu M., Airaksinen T., Xiao Q., et al. Fine mapping of Hyplip1 and the human homolog, a potential locus for FCHL. Mamm Genome 2001; 12: 238–45
   Google Scholar
• Coon H., Singh N., Dunn D., Eckfeldt J. H., Province M. A., Hopkins P. N., et al. TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study. Atherosclerosis 2004; 174: 357–62
   Google Scholar
• van der Vleuten G. M., Hijmans A., Heil S., Blom H. J., Stalenhoef A. F., de Graaf J. Can we exclude the TXNIP gene as a candidate gene for familial combined hyperlipidemia?. Am J Med Genet A 2006; 140: 1010–2
   Google Scholar
• Wojciechowski A. P., Farrall M., Cullen P., Wilson T. M., Bayliss J. D., Farren B., et al. Familial combined hyperlipidaemia linked to the apolipoprotein AI‐CII‐AIV gene cluster on chromosome 11q23–q24. Nature 1991; 349: 161–4
   PubMed Web of Science ®Google Scholar
• Hayden M. R., Kirk H., Clark C., Frohlich J., Rabkin S., McLeod R., et al. DNA polymorphisms in and around the Apo‐A1‐CIII genes and genetic hyperlipidemias. Am J Hum Genet 1987; 40: 421–30
   PubMedGoogle Scholar
• Dallinga‐Thie G. M., Bu X. D., van Linde‐Sibenius Trip M., Rotter J. I., Lusis A. J., de Bruin T. W. 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: 136–47
   Google Scholar
• Dallinga‐Thie G. M., van Linde‐Sibenius Trip M., Rotter J. I., Cantor R. M., Bu X., Lusis A. J., et al. Complex genetic contribution of the Apo AI‐CIII‐AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. J Clin Invest 1997; 99: 953–61
   Google Scholar
• Xu C. F., Talmud P., Schuster H., Houlston R., Miller G., Humphries S. Association between genetic variation at the APO AI‐CIII‐AIV gene cluster and familial combined hyperlipidaemia. Clin Genet 1994; 46: 385–97
   PubMed Web of Science ®Google Scholar
• Groenendijk M., Cantor R. M., Blom N. H., Rotter J. I., de Bruin T. W., Dallinga‐Thie G. M. Association of plasma lipids and apolipoproteins with the insulin response element in the apoC‐III promoter region in familial combined hyperlipidemia. J Lipid Res 1999; 40: 1036–44
   PubMed Web of Science ®Google Scholar
• Ribalta J., La Ville A. E., Vallve J. C., Humphries S., Turner P. R., Masana L. A variation in the apolipoprotein C‐III gene is associated with an increased number of circulating VLDL and IDL particles in familial combined hyperlipidemia. J Lipid Res 1997; 38: 1061–9
   Google Scholar
• Groenendijk M., Cantor R. M., De Bruin T. W., Dallinga‐Thie G. M. New genetic variants in the apoA‐I and apoC‐III genes and familial combined hyperlipidemia. J Lipid Res 2001; 42: 188–94
   Google Scholar
• Deeb S. S., Nevin D. N., Iwasaki L., Brunzell J. D. Two novel apolipoprotein A‐IV variants in individuals with familial combined hyperlipidemia and diminished levels of lipoprotein lipase activity. Hum Mutat 1996; 8: 319–25
   Google Scholar
• Marcil M., Boucher B., Gagne E., Davignon J., Hayden M., Genest J., Jr. Lack of association of the apolipoprotein A‐I‐C‐III‐A‐IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familial combined hyperlipoproteinemia in French Canadian subjects. J Lipid Res 1996; 37: 309–19
   PubMed Web of Science ®Google Scholar
• Wijsman E. M., Brunzell J. D., Jarvik G. P., Austin M. A., Motulsky A. G., Deeb S. S. Evidence against linkage of familial combined hyperlipidemia to the apolipoprotein AI‐CIII‐AIV gene complex. Arterioscler Thromb Vasc Biol 1998; 18: 215–26
   Google Scholar
• Tahvanainen E., Pajukanta P., Porkka K., Nieminen S., Ikavalko L., Nuotio I., et al. Haplotypes of the ApoA‐I/C‐III/A‐IV gene cluster and familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 1998; 18: 1810–7
   Google Scholar
• Groenendijk M., Cantor R. M., de Bruin T. W., Dallinga‐Thie G. M. The apoAI‐CIII‐AIV gene cluster. Atherosclerosis 2001; 157: 1–11
   PubMed Web of Science ®Google Scholar
• Pennacchio L. A., Olivier M., Hubacek J. A., Cohen J. C., Cox D. R., Fruchart J. C., et al. An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing. Science 2001; 294: 169–73
   PubMed Web of Science ®Google Scholar
• Pennacchio L. A., Olivier M., Hubacek J. A., Krauss R. M., Rubin E. M., Cohen J. C. Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. Hum Mol Genet 2002; 11: 3031–8
   PubMed Web of Science ®Google Scholar
• Endo K., Yanagi H., Araki J., Hirano C., Yamakawa‐Kobayashi K., Tomura S. Association found between the promoter region polymorphism in the apolipoprotein A‐V gene and the serum triglyceride level in Japanese schoolchildren. Hum Genet 2002; 111: 570–2
   PubMed Web of Science ®Google Scholar
• Baum L., Tomlinson B., Thomas G. N. APOA5‐1131T>C polymorphism is associated with triglyceride levels in Chinese men. Clin Genet 2003; 63: 377–9
   PubMedGoogle Scholar
• Pennacchio L. A., Rubin E. M. Apolipoprotein A5, a newly identified gene that affects plasma triglyceride levels in humans and mice. Arterioscler Thromb Vasc Biol 2003; 23: 529–34
   Google Scholar
• Nabika T., Nasreen S., Kobayashi S., Masuda J. The genetic effect of the apoprotein AV gene on the serum triglyceride level in Japanese. Atherosclerosis 2002; 165: 201–4
   Google Scholar
• Talmud P. J., Hawe E., Martin S., Olivier M., Miller G. J., Rubin E. M., et al. Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. Hum Mol Genet 2002; 11: 3039–46
   PubMedGoogle Scholar
• Kao J. T., Wen H. C., Chien K. L., Hsu H. C., Lin S. W. A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia. Hum Mol Genet 2003; 12: 2533–9
   Google Scholar
• Martin S., Nicaud V., Humphries S. E., Talmud P. J. Contribution of APOA5 gene variants to plasma triglyceride determination and to the response to both fat and glucose tolerance challenges. Biochim Biophys Acta 2003; 1637: 217–25
   PubMedGoogle Scholar
• Wright W. T., Young I. S., Nicholls D. P., Patterson C., Lyttle K., Graham C. A. SNPs at the APOA5 gene account for the strong association with hypertriglyceridaemia at the APOA5/A4/C3/A1 locus on chromosome 11q23 in the Northern Irish population. Atherosclerosis 2006; 185: 353–60
   PubMedGoogle Scholar
• Eichenbaum‐Voline S., Olivier M., Jones E. L., Naoumova R. P., Jones B., Gau B., et al. Linkage and association between distinct variants of the APOA1/C3/A4/A5 gene cluster and familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 2004; 24: 167–74
   PubMed Web of Science ®Google Scholar
• Mar R., Pajukanta P., Allayee H., Groenendijk M., Dallinga‐Thie G., Krauss R. M., et al. Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia. Circ Res 2004; 94: 993–9
   Google Scholar
• Ribalta J., Figuera L., Fernandez‐Ballart J., Vilella E., Castro Cabezas M., Masana L., et al. Newly identified apolipoprotein AV gene predisposes to high plasma triglycerides in familial combined hyperlipidemia. Clin Chem 2002; 48: 1597–600
   PubMedGoogle Scholar
• Aouizerat B. E., Kulkarni M., Heilbron D., Drown D., Raskin S., Pullinger C. R., et al. Genetic analysis of a polymorphism in the human apoA‐V gene: effect on plasma lipids. J Lipid Res 2003; 44: 1167–73
   PubMed Web of Science ®Google Scholar
• Hubacek J. A. Apolipoprotein A5 and triglyceridemia. Focus on the effects of the common variants. Clin Chem Lab Med 2005; 43: 897–902
   PubMed Web of Science ®Google Scholar
• Schaap F. G., Rensen P. C., Voshol P. J., Vrins C., Van Der Vliet H. N., Chamuleau R. A., et al. ApoAV reduces plasma triglycerides by inhibiting very low density lipoprotein‐triglyceride (VLDL‐TG) production and stimulating lipoprotein lipase‐mediated VLDL‐TG hydrolysis. J Biol Chem 2004; 279: 27941–7
   PubMed Web of Science ®Google Scholar
• van der Vliet H. N., Schaap F. G., Levels J. H., Ottenhoff R., Looije N., Wesseling J. G., et al. Adenoviral overexpression of apolipoprotein A‐V reduces serum levels of triglycerides and cholesterol in mice. Biochem Biophys Res Commun 2002; 295: 1156–9
   PubMed Web of Science ®Google Scholar
• Vu‐Dac N., Gervois P., Jakel H., Nowak M., Bauge E., Dehondt H., et al. Apolipoprotein A5, a crucial determinant of plasma triglyceride levels, is highly responsive to peroxisome proliferator‐activated receptor alpha activators. J Biol Chem 2003; 278: 17982–5
   PubMed Web of Science ®Google Scholar
• Nevin D. N., Brunzell J. D., Deeb S. S. The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity. Arterioscler Thromb 1994; 14: 869–73
   Google Scholar
• Reymer P. W., Gagne E., Groenemeyer B. E., Zhang H., Forsyth I., Jansen H., et al. A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis. Nat Genet 1995; 10: 28–34
   Google Scholar
• de Bruin T. W., Mailly F., van Barlingen H. H., Fisher R., Castro Cabezas M., Talmud P., et al. Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia. Eur J Clin Invest 1996; 26: 631–9
   Google Scholar
• Reymer P. W., Groenemeyer B. E., Gagne E., Miao L., Appelman E. E., Seidel J. C., et al. A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) contributes to the expression of familial combined hyperlipidemia. Hum Mol Genet 1995; 4: 1543–9
   Google Scholar
• Campagna F., Montali A., Baroni M. G., Maria A. T., Ricci G., Antonini R., et al. Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate‐1, the beta3‐adrenergic receptor, and the intestinal fatty acid binding protein‐2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia. Metabolism 2002; 51: 1298–305
   Google Scholar
• Samuels M. E., Forbey K. C., Reid J. E., Abkevich V., Bulka K., Wardell B. R., et al. Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: the ‐93G/D9N variant predisposes to low HDL‐C/high triglycerides. Clin Genet 2001; 59: 88–98
   Google Scholar
• Hoffer M. J., Bredie S. J., Snieder H., Reymer P. W., Demacker P. N., Havekes L. M., et al. Gender‐related association between the ‐93T–>G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia. Atherosclerosis 1998; 138: 91–9
   Google Scholar
• Hoffer M. J., Bredie S. J., Boomsma D. I., Reymer P. W., Kastelein J. J., de Knijff P., et al. The lipoprotein lipase (Asn291–>Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia. Atherosclerosis 1996; 119: 159–67
   Google Scholar
• Yang W. S., Nevin D. N., Iwasaki L., Peng R., Brown B. G., Brunzell J. D., et al. Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease. J Lipid Res 1996; 37: 2627–37
   PubMedGoogle Scholar
• Yang W. S., Nevin D. N., Peng R., Brunzell J. D., Deeb S. S. A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci U S A 1995; 92: 4462–6
   PubMedGoogle Scholar
• Pajukanta P., Porkka K. V., Antikainen M., Taskinen M. R., Perola M., Murtomaki‐Repo S., et al. No evidence of linkage between familial combined hyperlipidemia and genes encoding lipolytic enzymes in Finnish families. Arterioscler Thromb Vasc Biol 1997; 17: 841–50
   Google Scholar
• Gagne E., Genest J., Jr., Zhang H., Clarke L. A., Hayden M. R. Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia. Arterioscler Thromb 1994; 14: 1250–7
   Google Scholar
• Stein Y., Stein O. Lipoprotein lipase and atherosclerosis. Atherosclerosis 2003; 170: 1–9
   PubMed Web of Science ®Google Scholar
• Hoffer M. J., Snieder H., Bredie S. J., Demacker P. N., Kastelein J. J., Frants R. R., et al. The V73M mutation in the hepatic lipase gene is associated with elevated cholesterol levels in four Dutch pedigrees with familial combined hyperlipidemia. Atherosclerosis 2000; 151: 443–50
   Google Scholar
• Bowden D. W., Sale M., Howard T. D., Qadri A., Spray B. J., Rothschild C. B., et al. Linkage of genetic markers on human chromosomes 20 and 12 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes 1997; 46: 882–6
   PubMed Web of Science ®Google Scholar
• Ji L., Malecki M., Warram J. H., Yang Y., Rich S. S., Krolewski A. S. New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes 1997; 46: 876–81
   PubMedGoogle Scholar
• Lembertas A. V., Perusse L., Chagnon Y. C., Fisler J. S., Warden C. H., Purcell‐Huynh D. A., et al. Identification of an obesity quantitative trait locus on mouse chromosome 2 and evidence of linkage to body fat and insulin on the human homologous region 20q. J Clin Invest 1997; 100: 1240–7
   PubMed Web of Science ®Google Scholar
• Zouali H., Hani E. H., Philippi A., Vionnet N., Beckmann J. S., Demenais F., et al. A susceptibility locus for early‐onset non‐insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene. Hum Mol Genet 1997; 6: 1401–8
   PubMedGoogle Scholar
• Ghosh S., Watanabe R. M., Hauser E. R., Valle T., Magnuson V. L., Erdos M. R., et al. Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proc Natl Acad Sci U S A 1999; 96: 2198–203
   Google Scholar
• Damcott C. M., Hoppman N., Ott S. H., Reinhart L. J., Wang J., Pollin T. I., et al. Polymorphisms in both promoters of hepatocyte nuclear factor 4‐alpha are associated with type 2 diabetes in the Amish. Diabetes 2004; 53: 3337–41
   Google Scholar
• Silander K., Mohlke K. L., Scott L. J., Peck E. C., Hollstein P., Skol A. D., et al. Genetic variation near the hepatocyte nuclear factor‐4 alpha gene predicts susceptibility to type 2 diabetes. Diabetes 2004; 53: 1141–9
   PubMed Web of Science ®Google Scholar
• Hansen S. K., Rose C. S., Glumer C., Drivsholm T., Borch‐Johnsen K., Jorgensen T., et al. Variation near the hepatocyte nuclear factor (HNF)‐4alpha gene associates with type 2 diabetes in the Danish population. Diabetologia 2005; 48: 452–8
   Web of Science ®Google Scholar
• Love‐Gregory L. D., Wasson J., Ma J., Jin C. H., Glaser B., Suarez B. K., et al. A common polymorphism in the upstream promoter region of the hepatocyte nuclear factor‐4 alpha gene on chromosome 20q is associated with type 2 diabetes and appears to contribute to the evidence for linkage in an ashkenazi jewish population. Diabetes 2004; 53: 1134–40
   PubMed Web of Science ®Google Scholar
• Winckler W., Graham R. R., de Bakker P. I., Sun M., Almgren P., Tuomi T., et al. Association testing of variants in the hepatocyte nuclear factor 4alpha gene with risk of type 2 diabetes in 7,883 people. Diabetes 2005; 54: 886–92
   Web of Science ®Google Scholar
• Yamagata K., Furuta H., Oda N., Kaisaki P. J., Menzel S., Cox N. J., et al. Mutations in the hepatocyte nuclear factor‐4alpha gene in maturity‐onset diabetes of the young (MODY1). Nature 1996; 384: 458–60
   PubMed Web of Science ®Google Scholar
• Lilja H. E., Suviolahti E., Soro‐Paavonen A., Hiekkalinna T., Day A., Lange K., et al. Locus for quantitative HDL‐cholesterol on chromosome 10q in Finnish families with dyslipidemia. J Lipid Res 2004; 45: 1876–84
   Google Scholar
• Soro A., Pajukanta P., Lilja H. E., Ylitalo K., Hiekkalinna T., Perola M., et al. Genome scans provide evidence for low‐HDL‐C loci on chromosomes 8q23, 16q24.1‐24.2, and 20q13.11 in Finnish families. Am J Hum Genet 2002; 70: 1333–40
   Google Scholar
• Yu Y., Wyszynski D. F., Waterworth D. M., Wilton S. D., Barter P. J., Kesaniemi Y. A., et al. Multiple QTLs influencing triglyceride and HDL and total cholesterol levels identified in families with atherogenic dyslipidemia. J Lipid Res 2005; 46: 2202–13
   Google Scholar
• Li W. D., Dong C., Li D., Garrigan C., Price R. A. A genome scan for serum triglyceride in obese nuclear families. J Lipid Res 2005; 46: 432–8
   Google Scholar
• Olefsky J. M., Farquhar J. W., Reaven G. M. Reappraisal of the role of insulin in hypertriglyceridemia. Am J Med 1974; 57: 551–60
   PubMed Web of Science ®Google Scholar
• Geurts J. M., Janssen R. G., van Greevenbroek M. M., van der Kallen C. J., Cantor R. M., Bu X., et al. Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia. Hum Mol Genet 2000; 9: 2067–74
   Google Scholar
• van der Vleuten G. M., Kluijtmans L. A., Hijmans A., Blom H. J., Stalenhoef A. F., de Graaf J. The Gln223Arg polymorphism in the leptin receptor is associated with familial combined hyperlipidemia. Int J Obes (Lond) 2006; 30: 892–8
   Google Scholar
• van Greevenbroek M. M., van der Kallen C. J., Geurts J. M., Janssen R. G., Buurman W. A., de Bruin T. W. Soluble receptors for tumor necrosis factor‐alpha (TNF‐R p55 and TNF‐R p75) in familial combined hyperlipidemia. Atherosclerosis 2000; 153: 1–8
   Google Scholar
• Allayee H., Castellani L. W., Cantor R. M., de Bruin T. W., Lusis A. J. Biochemical and genetic association of plasma apolipoprotein A‐II levels with familial combined hyperlipidemia. Circ Res 2003; 92: 1262–7
   PubMed Web of Science ®Google Scholar
• Aouizerat B. E., Kane J. P. Apolipoprotein A‐II: active or passive role in familial combined hyperlipidemia. Circ Res 2003; 92: 1179–81
   Google Scholar
• Martin‐Campos J. M., Escola‐Gil J. C., Ribas V., Blanco‐Vaca F. Apolipoprotein A‐II, genetic variation on chromosome 1q21–q24, and disease susceptibility. Curr Opin Lipidol 2004; 15: 247–53
   PubMed Web of Science ®Google Scholar
• Lockhart D. J., Winzeler E. A. Genomics, gene expression and DNA arrays. Nature 2000; 405: 827–36
   PubMed Web of Science ®Google Scholar
• Morello F., de Bruin T. W., Rotter J. I., Pratt R. E., van der Kallen C. J., Hladik G. A., et al. Differential gene expression of blood‐derived cell lines in familial combined hyperlipidemia. Arterioscler Thromb Vasc Biol 2004; 24: 2149–54
   Google Scholar
• Eurlings P. M., Van Der Kallen C. J., Geurts J. M., Kouwenberg P., Boeckx W. D., De Bruin T. W. Identification of differentially expressed genes in subcutaneous adipose tissue from subjects with familial combined hyperlipidemia. J Lipid Res 2002; 43: 930–5
   Google Scholar
• Meex S. J., van der Kallen C. J., van Greevenbroek M. M., Eurlings P. M., El Hasnaoui M., Evelo C. T., et al. Up‐regulation of CD36/FAT in preadipocytes in familial combined hyperlipidemia. FASEB J 2005; 19: 2063–5
   PubMed Web of Science ®Google Scholar
• Van Eerdewegh P., Little R. D., Dupuis J., Del Mastro R. G., Falls K., Simon J., et al. Association of the ADAM33 gene with asthma and bronchial hyperresponsiveness. Nature 2002; 418: 426–30
   PubMed Web of Science ®Google Scholar
• Hugot J. P., Chamaillard M., Zouali H., Lesage S., Cezard J. P., Belaiche J., et al. Association of NOD2 leucine‐rich repeat variants with susceptibility to Crohn's disease. Nature 2001; 411: 599–603
   PubMed Web of Science ®Google Scholar
• Ogura Y., Bonen D. K., Inohara N., Nicolae D. L., Chen F. F., Ramos R., et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 2001; 411: 603–6
   PubMed Web of Science ®Google Scholar
• Mahaney M. C., Almasy L., Rainwater D. L., VandeBerg J. L., Cole S. A., Hixson J. E., et al. A quantitative trait locus on chromosome 16q influences variation in plasma HDL‐C levels in Mexican Americans. Arterioscler Thromb Vasc Biol 2003; 23: 339–45
   Google Scholar
• Shearman A. M., Ordovas J. M., Cupples L. A., Schaefer E. J., Harmon M. D., Shao Y., et al. Evidence for a gene influencing the TG/HDL‐C ratio on chromosome 7q32.3‐qter: a genome‐wide scan in the Framingham study. Hum Mol Genet 2000; 9: 1315–20
   Google Scholar
• Dastani Z., Quiogue L., Plaisier C., Engert J. C., Marcil M., Genest J., et al. Evidence for a gene influencing high‐density lipoprotein cholesterol on chromosome 4q31.21. Arterioscler Thromb Vasc Biol 2006; 26: 392–7
   Google Scholar
• Lyssenko V., Almgren P., Anevski D., Orho‐Melander M., Sjögren M., Saloranta C., Tuomi T., Groop L., the Botnia Study Group. Genetic Prediction of Future Type 2 Diabetes. PLoS Med 2005; 2: 1299–308
   Google Scholar
• Altshuler D., Brooks L. D., Chakravarti A., Collins F. S., Daly M. J., Donnelly P. A haplotype map of the human genome. Nature 2005; 437: 1299–320
   PubMed Web of Science ®Google Scholar
• Collins F. S., Guyer M. S., Charkravarti A. Variations on a theme: cataloging human DNA sequence variation. Science 1997; 278: 1580–1
   PubMed Web of Science ®Google Scholar
• Risch N., Merikangas K. The future of genetic studies of complex human diseases. Science 1996; 273: 1516–7
   PubMed Web of Science ®Google Scholar
• Lander E. S. The new genomics: global views of biology. Science 1996; 274: 536–9
   PubMed Web of Science ®Google Scholar
• Jorgenson E., Witte J. Coverage and Power in Association Studies. Am J Hum Genet 2006; 78: 884–8
   Google Scholar