scholarly journals INFLUENCE OF LYS198ASN POLYMORPHISM OF ENDOTHELIN-1 GENE ON ISCHEMIC ATHEROTHROMBOTIC STROKE CHARACTERISTICS

2020 ◽  
Vol 73 (4) ◽  
pp. 657-661
Author(s):  
Tetiana B. Oleshko ◽  
Iryna S. Chaika ◽  
Tetiana M. Oleshko ◽  
Viktoriia Yu. Harbuzova

The aim: Investigate the effect of Lys198Asn polymorphism of the EDN1 gene on ischemic atherothrombotic stroke characteristics. Materials and methods: Venous blood of 170 patients with ischemic atherothrombotic stroke (IAS) and 124 patients without cerebrovascular pathology, who made up the control group, used for the study. Lys198Asn (rs5370) polymorphism of the EDN1 gene was determined by the polymerase chain reaction method followed by restriction fragment length analysis. Statistical analysis was performed using SPSS-17.0. The values of Р < 0.05 were considered reliable. Results: An association between the Lys198Asn polymorphism of the EDN1 gene and the IAS development was detected. For Asn/Asn genotype carriers, the risk of IAS developing is 4 times higher than that of homozygotes for the major allele. The association of this polymorphism with the arterial pool, whose atherothrombotic changes lead to the development of IAS, was found in individuals with BMI < 25 kg/m2. Lys198Asn polymorphism also affects the severity of IAS in persons with hypertension and non-smokers. Conclusion: The Lys198Asn polymorphism of the EDN1 gene influences some characteristics of ischemic stroke.

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Rasa Liutkeviciene ◽  
Alvita Vilkeviciute ◽  
Greta Morkunaite ◽  
Brigita Glebauskiene ◽  
Loresa Kriauciuniene

Abstract Background Our purpose was to determine if SIRT1 (rs4746720, rs3740051) genotypes have an influence on the development of pituitary adenoma (PA). Methods The study group included 142 patients with pituitary adenoma (PA) and the control group consisted of 826 healthy people. The genotyping of SIRT1 (rs4746720, rs3740051) was carried out using the real-time polymerase chain reaction method. Results Statistically significant results were obtained in the analysis of SIRT1 rs3740051. Significant differences in genotype (G/G, G/A, A/A) distribution were obtained comparing patients with PA without recurrence and PA with recurrence (0, 17.9, 82.1% vs. 6.7, 6.7, 86.7%, respectively, p = 0.022). Also, statistically significant differences were observed when comparing the genotype (G/G, G/A, A/A) distribution in the non-invasive PA group and the invasive PA group (3.4, 25.9, 70.7% vs. 0, 8.3, 91.7%, respectively, p = 0.003), and allele G was less frequently observed in invasive PA, than in non-invasive PA (4.2% vs. 16.4%, p < 0,001). Further analysis revealed that G/A (OR = 0.261; 95% CI:0.099–0.689; p = 0.007) and each allele A (OR = 0.229; 95% CI:0.091–0.575; p = 0.002) were associated with lower odds of occurring an invasive PA. Conclusions Our study revealed that SIRT1 rs3740051 is associated with PA recurrence and invasiveness. The haplotype containing alleles C-A in rs12778366-rs3740051 was found to be associated with increased odds of PA development as well.


1993 ◽  
Vol 79 (2) ◽  
pp. 133-136 ◽  
Author(s):  
Guseppe Pellegris ◽  
Claudia Lombardo ◽  
Annelisa Cantoni ◽  
Liliana Devizzi ◽  
Monica Balzarotti

Background A number of reports have studied associations between Hodgkin's disease and HLA. Some of them established correlation between several antigens and Hodgkin's disease, and others found no correlations. Methods The HLA DP locus was determined by the polymerase chain reaction method in 31 Hodgkin's disease patients and 58 healthy controls. Results No significant difference between patients and controls was noted. Conclusions Further investigations are needed to confirm the hypothesis of a possible role of the HLA complex as one of the factors involved in Hodgkin's disease.


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