Catechol O-methyltransferase pharmacogenomics: human liver genotype-phenotype correlation and proximal promoter studies.

ABSTRACT:

Objectives

Catechol O-methyltransferase (COMT) is expressed as both soluble (S) and membrane-bound (MB) isoforms, with S-COMT predominantly expressed in the liver. A common nonsynonymous single nucleotide polymorphism (SNP), 472G > A (108/158Val > Met, S/MB), has been associated with variation in levels of COMT enzyme activity and thermal stability. We set out to test the hypothesis that additional COMT polymorphisms might also be associated with phenotypic variation.

Methods

We phenotyped 268 liver biopsy samples for S-COMT activity and thermal stability, resequenced a portion of the gene that had not been resequenced earlier, and genotyped DNA from these same samples for 16 COMT polymorphisms.

Results

There was a significant association between the two COMT phenotyp

SUBMITTER: Zhang J 

PROVIDER: S-EPMC3052748 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature