PMID: 11923122Mar 30, 2002Paper

Environmental modulation of atherosclerosis end points in familial hypercholesterolemia

Atherosclerosis. Supplements
Robert A Hegele

Abstract

In familial hypercholesterolemia (FH), early coronary heart disease (CHD) is a complex trait that results from a large monogenic component of susceptibility due to elevated LDL cholesterol. This was demonstrated by observation of the high risk of early CHD in FH subjects compared with the general population. However, not all subjects with a LDLR gene mutation suffer with early CHD. Furthermore, studies in extended multigenerational families showed that even for this strong monogenic effect the environment could substantially modulate the age at death from CHD. Anecdotal examples of apparent modulation of atherosclerosis severity by lifestyle changes were also seen in other monogenic metabolic problems, such as hepatic lipase deficiency and Dunnigan-type familial partial lipodystrophy. Thus, even within apparently clear-cut rare monogenic metabolic diseases, such as FH, among carriers there can be a variability in the expression of important quantitative end points, such as early CHD. In some cases, the environment, including lifestyle factors, appears to play a key role in modulating the disease severity. This complexity could have implications for diagnosis and treatment.

References

Sep 1, 1991·Arteriosclerosis and Thrombosis : a Journal of Vascular Biology·R A HegeleP W Connelly
Jan 1, 1989·The American Journal of Cardiology·R A HegeleJ M Lalouel
Nov 7, 1998·Clinical Chemistry and Laboratory Medicine : CCLM·S ChengS Visvikis
Mar 20, 1999·The Journal of Clinical Endocrinology and Metabolism·R A HegeleB Zinman

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Citations

Oct 16, 2004·Annual Review of Genomics and Human Genetics·Jose M Ordovas, Dolores Corella
Jul 14, 2005·Annual Review of Nutrition·Dolores Corella, Jose M Ordovas
Jun 19, 2003·The Journal of Clinical Investigation·Daniel J RaderHelen H Hobbs
Mar 16, 2012·Epigenetics : Official Journal of the DNA Methylation Society·Simon-Pierre GuayLuigi Bouchard
Jan 20, 2010·Drug Safety : an International Journal of Medical Toxicology and Drug Experience·Anthony S Wierzbicki, Adie Viljoen
Aug 23, 2006·Bulletin of Mathematical Biology·Robert Mach, Frank Schweitzer
Aug 7, 2021·Biomedicines·Juan Pedro-BotetDavid Benaiges

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