TH01, a tetrameric short tandem repeat locus in the tyrosine
hydroxylase gene: Association with myocardial hypertrophy and death from
myocardial infarction?
Affiliations: Institut für Rechtsmedizin, Martin
Luther-Universität Halle-Wittenberg, Franzosenweg 1, 06097 Halle/Saale,
Germany
Note: [] Corresponding author: Michael Klintschar, Institut für
Rechtsmedizin, Martin Luther-University Halle-Wittenberg, Franzosenweg 1,
D06112 Germany. Tel.: +49 345 557 1591; Fax: +49 345 557 1587; E-mail:
[email protected]
Abstract: TH01 is a tetrameric short tandem repeat locus located in intron 01
of the tyrosine hydroxylase gene. The tyrosine hydroxylase catalyzes the
hydroxylation of L-tyrosine to L-DOPA and is the rate limiting enzyme in the
synthesis of catecholamines like noradrenaline or adrenaline, which are pivotal
in the regulation of blood pressure. In a clinical study a strong correlation
between alleles *9.3 and *10 and essential hypertension was observed ([2]
Hypertension 32: 676–682). To further investigate this association, we typed
TH01 in 296 autopsy cases and correlated the genotypes to the heart weight as
parameter for myocardial hypertrophy. No significant correlation was observed.
Moreover, dividing the studied cases into 2 groups, one including 172
casualties from hypertension-associated diseases (myocardial infarction, left
heart failure, aortic aneurysm, spontaneous intracerebral bleeding and cerebral
infarction) and one consisting of 124 cases of death unrelated to hypertension,
revealed similar allelic frequencies for both groups. Our data thus suggest
that TH01 long alleles appear not to lead to a significant increase in the
incidence of myocardial hypertrophy or other hypertension associated diseases.
This could be explained by a relatively small impact of the TH01 genotype on
the blood pressure or by counteraction of another mechanism related to
catecholamines and their effect on the human body.
