Background:The aim of the study was to determine the effect of gene polymorphisms Arg389Gly ADRβ 1 gene and T393C gene GNAS1 on the level of heart rate (HR), systolic and diastolic blood pressure (SBP and DBP) (p <0,001). During the analysis of polymorphism T393C of GNAS1 gene only in patients from III subgroup was found a higher heart rate in patients with T393T genotype relatively to C393C genotype, but this difference was not statistically significant (p =0,191
Introduction: Arterial hypertension is a multifactorial disease developing under the influence of environmental factors and is genetically determined. One of the genetic markers that is of primary importance in the disease development is endothelin-1 gene (EDN1). Today the association between the polymorphic variants of this gene, particularly Lys198Asn-polymorphism, and the development of arterial hypertension in different populations of the world has been proved.
The aim: To study the association between the Lys198Asn-polymorphism of the endothelin-1 gene and the development of arterial hypertension in Ukrainian population.
Materials and methods: The genotypes were determined by the polymerase chain reaction method, followed by the analysis of the restriction fragment length (PCR-RFLP) in venous blood of 160 patients with arterial hypertension and 110 people in the control group. The statistical analysis was performed using SPSS-17.0.
Results: As a result of genotyping, it was found that in the group of patients with arterial hypertension the ratio of homozygote of the major allele (Lys/Lys), heterozygote (Lys/Asn) and homozygote of the minor allele (Asn/Asn) was 74 (46.3%), 73 ( 45.6%), 13 (8.1%), while in control - 66 (60.0%), 41 (37.3%), 3 (2.7%) respectively. The distribution of genotypes in the experimental groups was statistically significant (χ2 = 6.66; P = 0.036). By the method of binary logistic regression within the dominant and additive model of inheritance, a reliableassociation between the genotype of the Lys198Asn-polymorphism of the ET-1 gene and the development of arterial hypertension was established.
It was shown that carriers of minor allele (Lys/Asn+Asn/Asn) have a risk of arterial hypertension 1.7 (95 % CI = 1.066 – 2.851), and homozygotes Asn/Asn 3.9 (95 % CI = 1.016 – 9.566)times higher than people with Lys/Lys genotype.
In addition, smoking patients with Lys/Asn and Asn/Asn- genotypes have a risk of arterial hypertension 2.6 (95% of SI = 1.224-5.488), and homozygotes of the minor allele (Asn/Asn) 7.3(95% of SI = 1.295-41.639) times higher than the Lys/Lys homozygotes.
Conclusions: Lys198Asn-polymorphism of the endothelin-1 gene is associated with the development of arterial hypertension in Ukrainian population. Carriers of minor allele (Lys/Asn+Asn/Asn) have a risk of arterial hypertension 1.7, and homozygotes Asn/Asn 3.9 times higher than people with Lys/Lys genotype.
<p>ВМІСТ МАРКЕРІВ ЗАПАЛЕННЯ У ХВОРИХ НА ІШЕМІЧНУ ХВОРОБУ СЕРЦЯ ЗАЛЕЖНО ВІД ГЕНОТИПУ ЗА ε2/ε3/ε4-ПОЛІМОРФІЗМОМ ГЕНА ПОЛІПОПРОТЕЇНУ Е ТА МАСИ ТІЛА</p><p>У статті досліджено вміст маркерів запалення у пацієнтів із ішемічною хворобою серця залежно від генотипу за ε2/ε3/ε4 поліморфізмом гена аполіпопротеїну е та маси тіла. Встановлено, що ризик виникнення Іхс у хворих із ε3/ε3-генотипом та артеріальною гіпертензією був у 2,52 раза вищий, порівняно з носіями ε3/ε4+ε4/ε4-генотипів, та у 2,14 раза більший у носіїв ε3-алеля порівняно із носіями ε4-алеля. Досліджено, що носії ε3/ε3 та ε3/ε4+ε4/ε4 генотипів за наявності ожиріння мають вищі показники срб, Іл-6, порівняно з хворими із нормальною <br />масою тіла, що свідчить про прогресування атеросклерозу.</p>
асистент кафедри внутрішньої медицини з центром респіраторної медицини медичний інститут Кафедра внутрішньої медицини з центром респіраторної медицини Сумський Державний університет, Україна
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