[PP.07.14] DISCOVERY OF JAK/STAT SIGNALLING PATHWAY SINGLE NUCLEOTIDE POLYMORPHISMS ASSOCIATING WITH PRIMARY ARTERIAL HYPERTENSION

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Abstract

Objective:

In approximately 90% of cases of HT etiology is not well understood. Both environmental and genetic factors affect the presence of hypertension. In the transduction of a signal related to the activation of angiotensin II receptor are involved selected proteins of the JAK/STAT path.

Objective:

The aim of this study was to evaluate the prevalence of selected single nucleotide polymorphisms (SNPs) in the coding sequences of genes: JAK3 and TYK2 kinase, STAT1, STAT3 factors, and SOCS1, SOCS3, CISH proteins in patients with essential hypertension on the background of the healthy population.

Design and method:

The study included 536 subjects of the Polish population with mean age 32,78 ± 9,25 years. 244 patients with diagnosed essential hypertension (mean age 35,04 ± 8,53) and 292 subjects with normal blood pressure (mean age 30,62 ± 9,40 years). Symptoms, signs and laboratory tests, including genetic tests (analysis of SNPs in the analyzed genes: TYK2, JAK3, CISH, SOCS1, SOCS3, STAT1, STAT3) were performed.

Results:

Of the 111 evaluated SNPs in 20 cases, only one SNP allele occurred. The remaining 91 SNPs were further analyzed. A comparison of the frequency of allele assessed in the control group with the expected frequency of the equations resulting from Hardy-Weinberg equilibrium was performed. In the case of 18 SNPs their incidence in the study groups was significantly different from the expected.

Results:

In the analysis of alleles SNP rs13029247 of the STAT1 gene was more frequent in healthy group than in patients with hypertension (14,38% v 9,65%, p = 0,03). In the analysis of genotypes SNP rs12720279 of the TYK2 gene was more frequent as homozygous in the study group than in the control group (8,60% v 1,36%, p = 0,0001).

Conclusions:

Significant differences in the incidence of selected SNPs in patients with essential hypertension in comparison to a healthy population was revealed in the case of polymorphism in the analysis of genotypes (TYK2 gene rs12720279) and polymorphism in the analysis of alleles (STAT1 gene rs13029247).

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