The invention discloses a PTGIS
gene mutation related to
pulmonary hypertension and application thereof, relating to the field of
pulmonary hypertension diseases. According to the invention, through
whole genome sequencing, the condition that PTGIS
gene has three PTGIS rare variants, namely c.755G more than A, c.1339G more than A and g.23867G more than A positioned at an
intron-
exon splicing site,which are tightly related to
pulmonary hypertension is discovered. For the discovery, one the one hand, the
pathogenesis of a patient suffering from pulmonary hypertension is explained favorably, andone the other hand, a
mutant type PTGIS
gene with the
mutation site and corresponding
mutation type PTGIS
protein are taken as biomarkers of pulmonary hypertension, which can be used for evaluating the risk of the patient suffering from the pulmonary hypertension, or can be used for early warning that the descendant of a PTGIS
mutant gene carrier has the risk of suffering from pulmonary hypertension before
pregnancy; also the mutation site can be taken as a target point, thus providing a novel concept and measure for treating pulmonary hypertension.