Familial combined hyperlipidemia: upstream transcription factor 1 and beyond

Current Opinion in Lipidology
Jenny C LeeP Pajukanta

Abstract

Familial combined hyperlipidemia is a common complex disease that accounts for up to 20% of premature coronary heart disease. The upstream transcription factor 1, located on 1q21, was recently shown to be linked and associated with familial combined hyperlipidemia in Finnish families. Upstream transcription factor 1 is the first gene identified by positional cloning for familial combined hyperlipidemia. Replication studies are critical to investigation of complex diseases because only they can verify the importance of the original findings. We review recent studies that examine the genetic contribution and functional consequence of upstream transcription factor 1 variants to familial combined hyperlipidemia and type 2 diabetes mellitus. Aiming beyond upstream transcription factor 1, we also evaluate novel strategies that have made it possible to globally examine the genome and the transcriptome. Three independent studies support the role of upstream transcription factor 1 in familial combined hyperlipidemia. The results for type 2 diabetes mellitus and the metabolic syndrome have been less conclusive highlight novel strategies for gene identification in familial combined hyperlipidemia. Currently, genetic and functional evidenc...Continue Reading

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Citations

Oct 4, 2006·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Konstantinos KantartzisNorbert Stefan
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Dec 29, 2015·Current Opinion in Lipidology·Amanda J Brahm, Robert A Hegele
Jan 9, 2009·Molecular and Cellular Biochemistry·Robert A Hegele, Rebecca L Pollex

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