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A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.

Abstract：

:Dopamine-beta-hydroxylase (D beta H) catalyzes the conversion of dopamine to norepinephrine and is released from sympathetic neurons into the circulation. Plasma-D beta H activity varies widely between individuals, and a subgroup of the population has very low activity levels. Mounting evidence suggests that the DBH structural gene is itself the major quantitative-trait locus (QTL) for plasma-D beta H activity, and a single unidentified polymorphism may account for a majority of the variation in activity levels. Through use of both sequencing-based mutational analysis of extreme phenotypes and genotype/phenotype correlations in samples from African American, European American (EA), and Japanese populations, we have identified a novel polymorphism (--1021C-->T), in the 5' flanking region of the DBH gene, that accounts for 35%--52% of the variation in plasma-D beta H activity in these populations. In EAs, homozygosity at the T allele predicted the very low D beta H-activity trait, and activity values in heterozygotes formed an intermediate distribution, indicating codominant inheritance. Our findings demonstrate that --1021C-->T is a major genetic marker for plasma-D beta H activity and provide new tools for investigation of the role of both D beta H and the DBH gene in human disease.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Zabetian CP,Anderson GM,Buxbaum SG,Elston RC,Ichinose H,Nagatsu T,Kim KS,Kim CH,Malison RT,Gelernter J,Cubells JF

doi

10.1086/318198

subject

Has Abstract

pub_date

2001-02-01 00:00:00

pages

515-22

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(07)64104-4

journal_volume

68

pub_type

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