内皮型一酸化窒素合成酵素遺伝子のGlu298Asp変異と腎性血圧との関連

概要

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It is well known that endothelial nitric oxide synthase (eNOS) plays an important role in controlling systemic circulation and that reduced eNOS activity can result in hypertension. Recent studies have indicated that missense Glu298Asp (polymorphism in exon 7 of the eNOS gene) can be used as a genetic marker for hypertension, aortic stiffness, cerebrovascular disease and myocardial infarction. Since a correlation between this mutation and renal disease had not been reported, we performed a study on the 298Asp variant as related to blood pressure and several other clinical parameters in renal diseases. Polymorphism was determined by the following methods; the polymerase chain reaction with the enzyme Ban II digestion. In all the patients tested the genotype, including Asp (p=0.407, odds ratio 1.2) and the Asp allele (p=0.400), appeared as frequently in normotensive subjects as in hypertensive subjects. However in chronic glomerulonephritis patients, the genotype including Asp (p=0.04, odds ratio 2.7) and the Asp allele (p=0.05), appeared more frequently in hypertensive subjects than in normotensive subjects. These findings suggest that the 298Asp variant may be associated with renal hypertension and that it is the genetic factor in abnormal sodium excretion.
東京女子医科大学の論文
1999-10-25