Nakayama T, Soma M, Takahashi Y, Uwabo J, Izumi Y, Kanmatsuse
K, Esumi M
Associaion analysis of microsatellite polymorphism for
nitric oxide synthase gene in hypertensives
16th Scientific Meeting of the International Society of Hypertension
ISH Abstract Book
(Jun) 16: 1996
100 patients with EH and 115 age-matched controls were analyzed for a
CA repeat in intron 13 of the ecNOS gene. 33 CA repeats were more
common in the EH group (15.5 vs 7.4%) and patients with 33 repeats had
less LVH and lower blood pressure than those with a different number
of repeats. Reduced NO production is a candidate mechanism in EH.
Association of a functional genetic marker in ecNOS and EH would
therefore be of interest.
Comment: The marker analyzed in this study is intronic
and its functional significance unknown; the study is therefore
speculative. Although the sample size is perhaps adequate for a
bi-allelic polymorphism it is too small for a highly variable marker -
such as a microsatellite repeat. Analysis comparing the frequency of a
given number of repeats in affected vs controls will yield positive
results by chance if many comparisons are made. Further, larger or
linkage studies will be needed to assess the role of this polymorphism
in EH. Furthermore, it is difficult to construct a hypothesis around
an association with EH but mild disease - if NO production is reduced
in patients with 33 repeats more LVH and higher BP would be expected.
(Alan Jardine, M.D., Glasgow University, Scotland).
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16th Scientific Meeting of the International Society of Hypertension
H: Pathophysiology :
Genetics
H: Pathophysiology :
Endothelium, Nitric Oxide