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J. Lipid Res.
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Originally published In Press as doi:10.1194/jlr.R800081-JLR200 on November 20, 2008

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Journal of Lipid Research, Vol. 50, S370-S375, April 2009
Copyright © 2009 by American Society for Biochemistry and Molecular Biology

Atherogenesis

New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia

Stuart D. Horswell, Helen E. Ringham and Carol C. Shoulders1

Medical Research Council Clinical Sciences Centre, Imperial College London, Hammersmith Hospital, Du Cane Rd., London, W12 0NN United Kingdom

Supported by the Medical Research Council and the British Heart Foundation.

Published, JLR Papers in Press, November 20, 2008.

1 To whom correspondence should be addressed. e-mail: carol.shoulders{at}csc.mrc.ac.uk


ABSTRACT

This review summarizes the progress made in cutting through the biological and genetic complexity of the Gordian knot that is familial combined hyperlipidemia. We particularly focus on how the application of new genomic technologies, especially massively parallel sequencing and high-throughput genotyping platforms, promise to accelerate the gene discovery process in this common, highly atherogenic disorder, with important diagnostic and therapeutic implications.

Supplementary key words linkage • genetic heterogeneity

Abbreviations: asp, age-sex percentile; BMI, body mass index; FCHL, familial combined hyperlipidemia; HDL-C, HDL-cholesterol; LDL-C, LDL-cholesterol; Mps, massively parallel sequencing; SNP, single nucleotide polymorphism


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JLR 50th Anniversary Collections
Anniversary Collection::Atherogenesis



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