Aim. To study polymorphism of the gene of vascular angiotensin II receptor.
Materials and methods. Polymorphism that consists in variability of adenine
(A) and cytosine (C) residues at position 1166 of the gene for vascular an
giotensin II receptor (AT1R) was analyzed in a Moscow population (n=98) and
three groups of affected patients with myocardial infarction (n=32, MI), l
eft ventricular hypertrophy (LVH, n=38) and essential hypertension (EN, n=1
78). Polymorphic region of the AT1R gene was amplified using the polymerase
chain reaction (PCR) and genomic DNAs from human whole blood as template.
PCR products were electrophoresied in a gel after digestion with BstDEI res
triction nuclease. Significance of differences in distribution of both alle
le and genotype frequencies at the population sample and in affected patien
ts were estimated via exact Fisher's test.
Results. A significant decrease in the frequency of the A genotype was dete
cted in all the three affected groups compared to healthy controls. Besides
, the frequency of the A allele was significantly decreased in EH group wit
h a corresponding increase in the frequency of both the AC genotype and the
C allele.
Conclusion. The A1166C polymorphism of the AT1R gene is associated with EH,
MI and LVH in a Moscow population. The association is stronger with EH. Th
e A allele and the AA genotype protect against development of disorders at
early onset while the other genotypes and the C-allele are risk factors. A
protective role of the AA genotype is mole significant than predisposition
action of the CC homozygote.