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(Circulation. 2002;106:e9013.)
© 2002 American Heart Association, Inc.

Cardiovascular News

Ruth SoRelle, MPH

Circulation Newswriter

An extract of the first 250 words of the full text is provided, because this article has no abstract.

Endothelial Nitric Oxide Synthase Gene Polymorphisms at Heart of High-Altitude Pulmonary Edema

Polymorphisms, or changes in the base pairs of the gene that encodes for endothelial nitric oxide (NO) synthase (the enzyme responsible for NO synthesis), are associated with high-altitude pulmonary edema and the pulmonary hypertension that accompanies it, according to a group of Japanese researchers from Shinsu University School of Medicine in Matsumoto, Japan, in this week’s issue of Circulation (Circulation. 2002;106:826–830).

Studies of 41 patients susceptible to high-altitude pulmonary edema and 51 health controls revealed that 2 polymorphisms of the NO synthase gene were found more frequently in the group that was susceptible to the high-altitude disorder than in the health controls (all of whom were climbers). Eleven of the susceptible group carried both polymorphisms, whereas no one in the control group had both. The polymorphisms were identified as a Glu298Asp variant and the 27 bp VNTR. Both are found in the endothelial NO synthase gene. Although the researchers, led by Yunden Droma, MD, feel that their study confirms a genetic basis involving impaired NO synthesis in the lungs of a person with high-altitude pulmonary edema, they also said the work calls for a more comprehensive genetic approach that uses linkage analysis and other tools of that discipline.

In an accompanying editorial (Circulation. 2002;106:768–769), A.J. Marian, MD, of Baylor College of Medicine and Eric Boerwinkle, MD, of The University of Texas Medical School at Houston noted: "Although the report by Droma et al provides important and novel observations that deserve replication and further analysis by others, . . . [Full Text of this Article]