The Association of Lys198asn -Polymorphism of Endothelin-1 Gene (Edn1) With Development of Arterial Hypertension in Ukrainian Population

Abstract

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.

The signal axis GATA2-EDN1-AGT induced hypertension from obstructive sleep apnea-hypopnea syndrome with the clinical and animal study

“…EDN1 was considered as a key role in pulmonary arterial hypertension (17). The level of EDN1 was higher in arterial hypertension cases (18), which may suggest that EDN1 could accelerate hypertension. AGT, always considered as the trigger protein for hypertension, showed a consistency level with EDN1 (19)(20)(21).…”