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Open access

Simona Bucerzan, Radu Anghel Popp, Raluca Maria Vlad, Cecilia Lazea, Radu Nicolaescu and Paula Grigorescu-Sido


Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.

Methods: For 93 mothers who have children with trisomy 21 and 202 mothers of healthy children (control group), genotyping of MTHFR polymorphisms C677T and A1298C was performed.

Results: For each polymorphism, three genotypes were identified (normal homozygous, heterozygous and mutant homozygous). For the polymorphism C677T, the frequencies of the three genotypes (CC, CT and TT) were 50.5%, 40.8% and 8.6% in mothers of children with trisomy 21, versus 42.6%, 46% and 11.4% in mothers of healthy children, with no statistically significant differences. The frequency of the polymorphism A1298C was not statistically significant between the two groups for the genotype (AA) (48.4% vs 56.4%) or the genotype (AC) (39.8% vs 38.6%), but the genotype TT was more frequent in mothers of children with trisomy 21 (11.8% vs 4.9%; p = 0.033; OR = 2.57).

Conclusion: Women with genotype CC for the polymorphism A1298C of the MTHFR gene have a 2.57 times higher risk of offspring with trisomy 21.

Open access

Mureșan Daniel, Andreea Cătană, Radu Anghel Popp, Diana Elena Dumitraș, Florin Stamatian, Anca Dana Buzoianu and Ioana Cristina Rotar


Aim: The present study aim to analyze the relationship between GST M/T genotypes of glutathione S-transferases and cervical intraepithelial neoplasia.

Materials and Methods: A prospective case-control study has been designed including 69 cases with different degrees of cervical dysplasia and 107 controls. All patients had been examined colposcopically. For every patient both cervical and blood specimen have been obtained. The peripheral blood was used for GST M/T genotyping. The statistical analysis was performed using OR and chi-square at a level of significance inferior to 0.05.

Results: No statistically significant differences had been found between cases and controls for GST T-/M- geno-type (T-/M-, χ2=0.03, p= 0.8610) and T+/M+ χ2=0.65, p = 0.4197. Patients with in situ carcinoma had significant GST genotype association for T-/M+ genotype (OR=4.66, CI 95% [0.6528,24.9725], χ2=4.6, p=0.0314) and for T+/M- genotype (OR=0.12, CI 95% [0.0027,0.9465], χ2=0.05, p=0.0219).

Conclusion: The combination of GST genotypes can be included in a predictive score for patients with cervical carcinoma.

Open access

Iuliu Vlad Cătană, Radu Anghel Popp, Victor Pop Ioan, Andreea Cătană, Doinel Rădeanu, Alma Maniu and Marcel Cosgarea


Background. Polymorphisms for genes encoding glutathione S-transferase (GSTM1/GSTT1/GSTP1) might be one of the factors that can influence the variability in susceptibility for hyposmia in normal and ENT pathology associated individuals. The role of GST family enzyme might be important in exposure to xenobiotic induced damage of nasal mucosa. Objectives. To evaluate of distribution of GST variants (GSTM1/GSTT1 null alleles and Ile105Val GSTP1 polymorphism) among patients with hyposmia and normal individuals by using a case-control study. Subjects The study included 75 cases of hyposmic patients (evaluated with “Sniffin’ Sticks” olfaction Test), recruited from the Otorhinolaryngology Department of Emergency County Hospital, Cluj-Napoca and 124 healthy unrelated controls. Methods. GSTM1 and GSTT1 variants genotyping was accomplished using a Multiplex PCR method, followed by agarose gel electrophoresis. GSTP1 Ile105Val gene variant was genotyped using PCR-RLFP technique. Results. Comparative analysis for Ile105Val variant of GSTP1 gene revealed no statistical differences among patients and controls (χ2 = 3.012, p = 0.087, OR = 1.514, CI = 0.491 to 1.572). Molecular analysis did not reveal an increased frequency for GSTT1 and GSTM1 null alleles in the patients group compared to controls (GSTT1 - 95% CI = 0.332 to 1.261, p = 0.192, OR = 0.641, χ2 = 2.120, GSTM1 - 95% CI = 0.171 to 0.592, χ2 = 2.017, OR = 0.321, p = 0.062). Significant statistical differences were found when combined GSTM1 and GSTT1 null genotypes (double-null genotypes) were compared between patients and controls (p=0.0015, OR=4.0351; CI=1.706-9.543) and when comparing allergic NP patients with non-allergic NP patients (p=0.027, OR=3.455, CI=1.147-10.406). Conclusions. The presence of both GSTM1/GSTT1 null genotypes (double null genotypes) is considered to be a risk factor for NP and hyposmia development in allergic individuals. The results of our study show no correlation between Ile105Val polymorphism of GSTP1 gene and nasal polyposis associated hyposmia in this Romanian group population.

Open access

Felicia Maria Petrişor, Andreea Cătană, Dragoş Horea Mărginean, Adrian Pavel Trifa, Radu Anghel Popp and Ioan Victor Pop


Introduction: Being a multifactorial disease, stroke is one of a major causes of death and disability worldwide. Several genetic polymorphisms have been associated with stroke etiophatology and FGB −455 G>A and GP IIIa PIA1/A2 are among them. In the present study, we investigated the association between FGB −455 G>A and GP IIIa PIA1A2 polymorphisms and the risk of ischemic stroke in a group of Romanian stroke patients.

Subjects and methods: This case-control study included 148 patients with ischemic stroke and 150 healthy age, sex and ethnically matched unrelated controls. FGB −455G>A and GP IIIa PIA1A2 genotyping was carried out using PCR-RFLP. The association of FGB −455G>A and GP IIIa PIA1A2 polymorphisms and cardiovascular risk factors with ischemic stroke was tested using logistic regression analysis.

Results: Molecular analysis did not reveal an increased frequency of the FGB -455 G>A variant allele and GP IIIa PIA1/A2 variant allele in the study group compared to the control group (p = 0.140, OR = 0.750, 95% CI = 0.522 - 1.077; p = 0.823, OR = 0.944, 95% CI = 0.558 - 1.599 respectively). Furthermore, after performing logistic regression analysis adjusted for the known risk factors, a positive association with stroke was found in smokers (p = 0.026, OR = 1.800, 95% CI = 1.071 - 3.024)

Conclusions: No association was found between FGB −455 G>A and GP IIIa PIA1/A2 polymorphisms and ischemic stroke in the studied population.

Open access

Ana Maria Daraban, Adrian Pavel Trifa, Radu Anghel Popp, Diana Botezatu, Marinela Șerban, Valentina Uscatescu, Rodica Talmaci, Daniel Coriu, Carmen Ginghina and Ruxandra Oana Jurcut


Objective: The present case-control study aimed at evaluating the contribution of thrombophilic polymorphisms to acute venous (VTE) as well as arterial thrombotic events (ATE) in a population of young women with few traditional thrombotic factors (CVRF).

Methods: We consecutively enrolled patients under 45 years of age, with less than 3 CVRF, evaluated for VTE or ATE, women and men as a comparator. The control group consisted of healthy young women. A thrombophilia panel and genetic testing for Factor V Leiden (FVL), G20210A Prothrombin and MTHFR polimorphisms were done.

Results: A total of 323 persons were enrolled: 71 women and 121 men with thromboembolic events, and 131 healthy female as controls. Hyperhomocysteinemia was more frequent in ATE (30.4%) than VTE female patients (6.25%), p<0.01. Genetic testing was available in 45 women and 84 men with acute thrombotic events and in all controls. Homozygous FVL was associated with VTE in young women (10.3% vs 0% controls, p<0.01). Prothrombin G20210A polymorphism had the lowest prevalence – 5.4% and only heterozygosity was found. MTHFR C677T heterozygosity showed no significant difference between women patients and controls (62.2 % vs 43.5% respectively, p=0.1). The homozygous status, less frequent (6.6%), was not associated with ATE or VTE. Homozygous MTHFR A1298C was associated with VTE in women (17.2% patients vs 4.5% controls, OR 4.34, p 0.02, CI 1.22-15.3).

Conclusion: In young women with few CVRF, mild hyperhomocysteinemia, homozygosity for FVL and for MTHFR A1298C polymorphisms increase the risk for VTE but not ATE. MTHFR polymorphisms are found with increased frequency in both healthy persons and patients therefore, their significance as an important thrombotic risk modifier remains unclear.