Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1)
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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. 52, 1544–1568 (1973).
Nikkilä, E.A. & Aro, A. Family study of serum lipids and lipoproteins in coronary heart disease. Lancet 1, 954–959 (1973).
Pajukanta, P. et al. Linkage of familial combined hyperlipidemia to chromosome 1q21q23. Nat. Genet. 18, 369–373 (1998).
Coon, H. 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. 20, 2275–2280 (2000).
Pei, W. et al. Support for linkage of familial combined hyperlipidemia to chromosome 1q21–q23 in Chinese and German families. Clin. Genet. 57, 29–34 (2000).
Allayee, A. et al. Locus for elevated apolipoprotein B levels on Chromosome 1p31 in families with familial combined hyperlipidemia. Circ. Res. 90, 926–931 (2002).
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 48, 1175–1182 (1999).
Hanson, R.L. 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. 634, 1130–1138 (1998).
Vionnet, N. 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 3q-qter and independent replication of a type 2-diabetes locus on chromosome 1q21–q24. Am. J. Hum. Genet. 67, 1470–1480 (2000).
Wiltshire, S. 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. 69, 553–569 (2001).
Hsueh, W.C. 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 52, 550–507 (2003).
Watanabe, R.M. 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. 67, 1186–1200 (2000).
Bodnar, J.S. et al. Positional cloning of the combined hyperlipidemia gene Hyplip1. Nat. Genet. 30, 110–116 (2002).
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. 274, 2009–2013 (1999).
Vallet, V.S. et al. Differential roles of upstream stimulatory factors 1 and 2 in the transcriptional response of liver genes to glucose. J. Biol. Chem. 7, 20175–20179 (1998).
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., 274, 1216–1225 (1999).
Iynedjian, P.B. Identification of upstream stimulatory factor as transcriptional activator of the liver promoter of the glucokinase gene. Biochem. J. 333, 705–712 (1998).
Sinsheimer, J.S., Blangero, J. & Lange, K. Gamete competition models. Am. J. Hum. Genet. 66, 1168–1172 (2000).
Laird, N., Horvath, S. & Xu, X. Implementing a unified approach to family based tests of association. Genet. Epidemiol. 19, 36–42 (2000).
Martin, E.R., Bass, M.P., Gilbert, J.R., Pericak-Vance, M.A., & Hauser ER. Genotype-based association test for general pedigrees: the genotype-PDT. Genet. Epidemiol. 25, 203–213 (2003).
Terwilliger, J.D. & Ott, J. A haplotype-based 'haplotype relative risk' approach to detecting allelic associations. Hum. Hered. 42, 337–346 (1992).
Soro, A., Jauhiainen, M., Ehnholm, C. & Taskinen, M.R. Determinants of low HDL levels in familial combined hyperlipidemia. J. Lipid Res. 44, 1536–1544 (2003).
Peltonen, L., Pekkarinen, P. & Aaltonen, J. Messages from an isolate: lessons from the Finnish gene pool. Biol. Chem. 376, 697–704 (1995).
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. 3, 151–158 (2002).
Vakkilainen, J. et al. LDL particle size in familial combined hyperlipidemia: effects of serum lipids, lipoprotein-modifying enzymes, and lipid transfer proteins. J. Lipid Res. 43, 598–603 (2002).
The Gene Ontology Consortium. Gene Ontology: tool for the unification of biology. Nat. Genet. 25, 25–29 (2000).
Hosack, D.A., Dennis, G. Jr., Sherman, B.T., Lane, H.C. & Lempicki, R.A. Identifying biological themes within lists of genes with EASE. Genome Biol. 4, R70.1–R70.8 (2003).
Lathrop, G.M., Lalouel, J.-M., Julier, C.A. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443–3446 (1984).
Göring, H.H. & Terwilliger, J.D. Gene mapping in the 20th and 21st centuries: statistical methods, data analysis, and experimental design. Hum. Biol. 72, 63–132 (2000).