Butyrylcholinesterase: Association with the metabolic syndrome and identification of 2 gene loci affecting activity

Valle, Anne, OConnor, Daniel T., Taylor, Palmer, Zhu, Gu, Montgomery, Grant W., Slagboom, P. Eline, Martin, Nicholas G. and Whitfield, John B. (2006) Butyrylcholinesterase: Association with the metabolic syndrome and identification of 2 gene loci affecting activity. Clinical Chemistry, 52 6: 1014-1020. doi:10.1373/clinchem.2005.065052

Author Valle, Anne
OConnor, Daniel T.
Taylor, Palmer
Zhu, Gu
Montgomery, Grant W.
Slagboom, P. Eline
Martin, Nicholas G.
Whitfield, John B.
Title Butyrylcholinesterase: Association with the metabolic syndrome and identification of 2 gene loci affecting activity
Journal name Clinical Chemistry   Check publisher's open access policy
ISSN 0009-9147
Publication date 2006
Sub-type Article (original research)
DOI 10.1373/clinchem.2005.065052
Volume 52
Issue 6
Start page 1014
End page 1020
Total pages 7
Editor D. E. Bruns
Place of publication Washington, DC, United States
Publisher American Association for Clinical Chemistry
Collection year 2006
Language eng
Subject C1
321011 Medical Genetics
730210 Environmental health
Abstract Background: Plasma cholinesterase activity is known to be correlated with plasma triglycerides, HDL- and LDL-cholesterol, and other features of the metabolic syndrome. A role in triglyceride metabolism has been proposed. Genetic variants that decrease activity have been studied extensively, but the factors contributing to overall variation in the population are poorly understood. We studied plasma cholinesterase activity in a sample of 2200 adult twins to assess covariation with cardiovascular risk factors and components of the metabolic syndrome, to determine the degree of genetic effects on enzyme activity, and to search for quantitative trait loci affecting activity. Methods and Results: Cholinesterase activity was lower in women than in men before the age of 50, but increased to activity values similar to those in males after that age. There were highly significant correlations with variables associated with the metabolic syndrome: plasma triglyceride, HDL- and LDL-cholesterol, apolipoprotein B and E, urate, and insulin concentrations; gamma-glutamyltransferase and aspartate and alanine aminotransferase activities; body mass index; and blood pressure. The heritability of plasma cholinesterase activity was 65%. Linkage analysis with data from the dizygotic twin pairs showed suggestive linkage on chromosome 3 at the location of the cholinesterase WHO gene and also on chromosome 5. Conclusions: Our results confirm and extend the connection between cholinesterase, cardiovascular risk factors, and metabolic syndrome. They establish a substantial heritability for plasma cholinesterase activity that might be attributable to variation near the structural gene and at an independent locus. (c) 2006 American Association for Clinical Chemistry.
Keyword Medical Laboratory Technology
Confirmed Alzheimers-disease
Serum Butyrylcholinesterase
Insulin Sensitivity
Q-Index Code C1
Institutional Status Non-UQ

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Created: Wed, 15 Aug 2007, 08:16:38 EST