A polymorphism upstream from the human paraoxonase (PON1) gene and its association with PON1 expression
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Updated: Oct 15, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
T Suehiro1, T Nakamura, M Inoue
1The Second Department of Internal Medicine, Kochi Medical School, Kohasu, Okoh-cho, Nankoku, 781-8505, Kochi, Japan. suehirot@kochi-ms.ac.jp
Abstract:
Human serum paraoxonase (PON1) is an esterase that has been shown to decrease the susceptibility of lipoproteins to lipid peroxidation. We found a polymorphism of cytosine/thymidine (-108C/T, the number is from the ATG codon) in the upstream region of the PON1 gene. The luciferase activity was lower in the -108T allele than in the -108C allele. The serum PON1 concentrations in 132 normal subjects were as follows: -108CC>-108CT and>-108TT genotypes. The polymorphism upstream from the PON1 gene is associated with transcription of the PON1 gene and the serum PON1 concentration.
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