Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
16574762
TITLE
Butyrylcholinesterase: association with the metabolic syndrome and identification of 2 gene loci affecting activity.
ABSTRACT
BACKGROUND NlmCategory: 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 NlmCategory: 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 (BCHE) gene and also on chromosome 5.
CONCLUSIONS NlmCategory: 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.
DATE PUBLISHED
2006 Jun
HISTORY
PUBSTATUS PUBSTATUSDATE
aheadofprint 2006/03/30
pubmed 2006/04/01 09:00
medline 2006/06/28 09:00
entrez 2006/04/01 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Valle A Valle Anne A Department of Pharmacology, University of California at San Diego School of Medicine, and VA San Diego Healthcare System, La Jolla, CA, USA.
O'Connor DT O'Connor Daniel T DT
Taylor P Taylor Palmer P
Zhu G Zhu Gu G
Montgomery GW Montgomery Grant W GW
Slagboom PE Slagboom P Eline PE
Martin NG Martin Nicholas G NG
Whitfield JB Whitfield John B JB
INVESTIGATORS
JOURNAL
VOLUME: 52
ISSUE: 6
TITLE: Clinical chemistry
ISOABBREVIATION: Clin. Chem.
YEAR: 2006
MONTH: Jun
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0009-9147
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Clin Chem
COUNTRY: United States
ISSNLINKING: 0009-9147
NLMUNIQUEID: 9421549
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
COMMENTS AND CORRECTIONS
GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adult
Aged
Aged, 80 and over
Butyrylcholinesterase metabolism
Cardiovascular Diseases genetics
Female genetics
Genetic Linkage genetics
Humans genetics
Male genetics
Metabolic Syndrome X genetics
Middle Aged genetics
Quantitative Trait, Heritable genetics
Risk Factors genetics
Twins, Dizygotic genetics
Twins, Monozygotic genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
EC 3.1.1.- Butyrylcholinesterase
OTHER ID's