RRML - Angiotensin-converting enzyme gene polymorphisms in pulmonary arterial hypertension in children

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Nr. 18(4)/2010

Angiotensin-converting enzyme gene polymorphisms in pulmonary arterial hypertension in children

Rodica Togănel, Claudia Bănescu, Carmen Duicu, Carmen Şuteu, Iolanda Muntean, Amalia Făgărăşan, Liliana Gozar, Sorina Pasc

Abstract:

Angiotensin converting enzyme (ACE) plays an important role in the pathogenesis of pulmonary arterial hypertension. In this study we determined whether the deletion (D)/insertion (I) polymorphism in the ACE gene may be associated with pulmonary arterial hypertension in children. Methods and Results. We performed a case-control study involving 29 patients with pulmonary arterial hypertension and 26 healthy controls. Genomic DNA extracted from peripheral blood was amplified using the polymerase chain reaction to detect the polymorphic marker. In patients, ACE genotype distribution of DD, ID, and II was 34.5%, 58.6%, and 6.9%, respectively, whereas in controls it was 11.5%, 69.3%, and 19.2%, respectively. Conclusion. The ACE DD genotype is significantly increased in patients with pulmonary hypertension compared with normal controls, suggesting that certain individuals may be genetically predisposed to developing pulmonary hypertension.

Keywords: pulmonary hypertension,gene polymorphisms,angiotensin converting enzyme.

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Togănel R, Bănescu C, Duicu C, Şuteu C, Muntean I, Făgărăşan A, et al. Angiotensin-converting enzyme gene polymorphisms in pulmonary arterial hypertension in children. Rev Romana Med Lab. 2010;18(4):31-6