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Open AccessReview

Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene

Huntsman Cancer Institute and Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA
Pharmaceuticals 2009, 2(3), 94-117; https://doi.org/10.3390/ph2030094
Received: 27 October 2009 / Revised: 10 November 2009 / Accepted: 19 November 2009 / Published: 20 November 2009
(This article belongs to the Special Issue Biomarkers)
In the past several years a number of alterations in the PAFAH/PLA2G7/LpPLA2 gene have been described. These include inactivating mutations, polymorphisms in the coding region, and other genetic changes located in promoter and intronic regions of the gene. The consequences associated with these genetic variations have been evaluated from different perspectives, including in vitro biochemical and molecular studies and clinical analyses in human subjects. This review highlights the current state of the field and suggests new approaches that can be used to evaluate functional consequences associated with mutations and polymorphisms in the PAF-AH gene. View Full-Text
Keywords: PAF acetylhydrolase; PLA2G7; single nucleotide polymorphism; mutation; vascular disease PAF acetylhydrolase; PLA2G7; single nucleotide polymorphism; mutation; vascular disease
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Stafforini, D.M. Functional Consequences of Mutations and Polymorphisms in the Coding Region of the PAF Acetylhydrolase (PAF-AH) Gene. Pharmaceuticals 2009, 2, 94-117.

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