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Analysis of an Insertion/deletion Polymorphism (I/D) in the Angiotensin I - Converting Enzyme Gene (ACE) in Subjects with Hypertension and Ischaemic Heart Disease

Marta Pacholczyk, Tomasz Ferenc, Lucjan Pawlicki, Anna Masajtis, Marcin Barylski, Jolanta Stróżyńska, Liliana Stalińska, Robert Irzmański, Jan Kowalski

Med Sci Tech 2006; 47(3): RA197-205

ID: 881513

Introduction: There nin-angiotens in system is thouht to be important in the patogenesis of hypertension and cardiovascular disease. Plasma angiotensin I-converting enzyme (ACE) activity is associated with an insertion/deletion polymorphism in the gene coding for ACE. The objective of our study was to examine a possible relationship between angiotensin converting enzyme gene polymorphic variants and increased risk for hypertension, coronary artery disease and myocardial infraction. Material and methods: We examined 128 subjects with cardiovascular diseases, 64 men and 64 woman, mean age 57,24 ± 12,66. Polymerase chain reaction (PCR) and gel electrophoresis were used to determine the genotypes for an insertion/deletion polymorphism in intron 16 of the ACE gene. Results: We observed significant difference in genotype distribution between subjects with cardiovascular diseases (DD - 39,9%; ID - 49,2%; II - 10,9%) and controls (DD - 13,9%; ID - 55,5%; II - 30,6%), p < 0,01. The observed ACE genotype frequencies in the group I were DD – 34,3%; ID – 52,3%; II – 13,4%, while in group II DD – 41,7%; ID – 47,9%; II – 10,4%, and in group III DD – 61,5%; ID – 38,5%; II - 0%. DD genotype was associated with hypertension OR = 3,24 (CI 95% 1,11 – 9,45), coronary artery disease OR = 4,42 (CI 95% 1,46 – 13,37), and myocardial infraction OR = 4,75 (CI 95% 2,29 – 42,85). Conclusions: The frequency of DD genotype distribution among patients with hypertension and ischaemic heart disease was significantly greater then among controls. From these data we conclude that the ACE deletion polymorphism may influence the development and progression cardiovascular diseases.(Clin. Exp. Med. Lett. 2006; 47(3):197-205)

Keywords: ACE gene, insertion/deletion polymorphism, Hypertension, ishaemic heart disease, myocardial infraction

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