Faculty of Medicine

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    Association of ACEI//D Gene Polymorphism with Diabetic Nephropathy.
    (Scientific association of endocrinologists and diabetologists of Macedonia, 2018-05)
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    Trajkovska, Ivana
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    Doneva, Daniela
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    Nedevska Minova, Natasha
    Diabetic nephropathy (DN) is considered as a major microvascular complication of type 2 diabetes mellitus (T2DM) and is the leading cause of end-stage renal disease. Genetic susceptibility is a significant risk factor for DN development including the polymorphisms in ACE gene. The aim of this study is to investigate the association of ACE gene I/D polymorphism with DN in T2DM patients. In this prospective, observational, genetic association, case-control study, a demographic, clinical and laboratory data are analyzed from preliminary selected group of 35 patients with T2DM, of which 17 are with DN and 18 without DN. The duration of T2DM is similar to both subgroups. As controls, blood samples from 30 healthy blood donors and volunteers are being collected. Genetic analyses revealed statistically significant (p=0.029) association of genotypes D/D and I/D with occurrence of nephropathy, regarding the homozygous I/I genotype. Carriers of D/D and I/D genotypes has 7.134 folds higher odds and 2.148 folds higher relative risk for developing nephropathy than the carriers of I/I genotype among the patients with T2DM. Although the data and samples from only 35 patients are calculated, preliminary analyses indicates that there is a potential applicable predictive value of determination of this polymorphism during the clinical follow-up, treatment selection and prognosis of diabetic nephropathy.
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    Association of the APOEgene polymorphism with diabetic nephropathy
    (Bioscientifica, 2020-08)
    Hasan, Taner
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    Josifovska, Slavica
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    Trajkovska, Ivana
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    Doneva, Daniela
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    Nedeska, Natasha
    The protein isoformes that are products of the Apolipoprotein E (APOB) gene polymorphism have partially altered biological activity and that may lead to greater susceptibility of the patientsto microvascular complications including Diabetic nephropathy (DN)in patients with the Type 2 diabetes mellitus (T2DM). The aim of this study was to evaluate the association between the allele ε2, ε3, and ε4 of the APOE gene, as well as their combination, with the development of DN in patients with T2DM from the North Macedonia. The genotypic and allele frequency of the polymorphisms rs429358 and rs7412 in the APOE gene was determined in a group of patients with T2DM (with and without DN), and in the control group healthy subjects. The study is designed as a case-control genetic association study. The samples from 88 patients with T2DM were analyzed, including 57 patients with DN and 31 without DN and 26 healthy controls. The demographic, clinical and laboratory data were analyzed in addition to the genetic profiling of the patients. Genotyping of the APOE gene polymorphism resulted in determination of the patient’s genotype: ε2/ε2, ε3/ε3, ε4/ε4, ε2/ε3, ε2/ε4 or ε3/ε4, as well as of the alleles: ε2, ε3 or ε4. The results revealed a statistically significant association of the genotype ε2/ε3 (P = 0.016) and the allele ε2 (P = 0.020) with the occurrence of DN compared to the other genotypes and alleles. The presence of this genotype increases the chances of DN by 4,24 folds and the relative risk by 1,50 folds. In conclusion, the correlation of the APOEgene polymorphism and the development of the DN in patients with T2DM was confirmed indicating that there is a potential applicable value in the prognosis and treatment selection.
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    Association of the apoe gene polymorphism with diabetic nephropathy
    (SHMSHM - AAMD, 2019-02)
    Hasan, Taner
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    Pakovski, Kiril
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    Josifovska, Slavica
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    Baloski, Marjan
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    Nedeska Minova, Natasha
    The protein isoformes that are products of the Apolipoprotein E (APOB) gene polymorphism have partially altered biological activity and that may lead to greater susceptibility of the patients to microvascular complications including Diabetic nephropathy (DN) in patients with the Type 2 diabetes mellitus (T2DM). The aim of this study was to evaluate the association between the allele Ԑ2, Ԑ3, and Ԑ4 of the APOE gene, as well as their combination, with the development of DN in patients with T2DM from the North Macedonia. The genotypic and allele frequency of the polymorphisms rs429358 and rs7412 in the APOE gene was determined in a group of patients with T2DM (with and without DN), and in the control group healthy subjects. The study is designed as a case-control genetic association study. The samples from 88 patients with T2DM were analyzed, including 57 patients with DN and 31 without DN and 26 healthy controls. The demographic, clinical and laboratory data were analyzed in addition to the genetic profiling of the patients. Genotyping of the APOE gene polymorphism resulted in determination of the patient’s genotype: Ԑ2/Ԑ2, Ԑ3/Ԑ3, Ԑ4/Ԑ4, Ԑ2/Ԑ3, Ԑ2/Ԑ4 or Ԑ3/Ԑ4, as well as of the alleles: Ԑ2, Ԑ3 or Ԑ4. The results revealed a statistically significant association of the genotype Ԑ2/Ԑ3 (p=0.016) and the allele Ԑ2 (p=0.020) with the occurrence of DN compared to the other genotypes and alleles. The presence of this genotype increases the chances of DN by 4,24 folds and the relative risk by 1,50 folds. In conclusion, the correlation of the APOE gene polymorphism and the development of the DN in patients with T2DM was confirmed indicating that there is a potential applicable value in the prognosis and treatment selection.
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    Angiotensin-converting enzyme gene (I/D) polymorphism in association with diabetic nephropathy
    (SHMSHM - AAMD, 2018-03)
    Hasan, Taner
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    Trajkovska, Ivana
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    Balovski, Marjan
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    Minova Nedeska, Natasha
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    Polymorphisms in the Angiotensin-converting enzyme (ACE) gene have been associated with development of diabetic nephropathy (DN), a major microvascular complication of the type 2 diabetes mellitus (T2DM). Since the genetic predisposition plays an important role in development of DN in patients with T2DM, genetic testing might largely contribute to better assessment of the risk of DN in such patients. The aim of this study is to investigate the association of the ACE gene I/D polymorphism with DN in T2DM patients. The study is designed as a casecontrol genetic association study. The samples from 88 patients with T2DM were analyzed, including 57 patients with DN and 31 without DN. The study includes also 26 healthy controls. The demographic, clinical and laboratory data are analyzed in addition to the genetic profiling of the patients for the ACE gene. Genotyping of the ACE gene I/D polymorphism resulted in determination of the patient’s genotype: D/D, I/D or I/I. The results revealed a statistically significant association of genotypes D/D and I/D with the occurrence of nephropathy compared to the I/I genotype. In the group of patients with T2DM, the carriers of the D/D or I/D genotypes have 6.46 folds higher odds and 1.7 folds higher relative risk for developing nephropathy than the carriers of I/I genotype. The results confirmed the correlation of the genetic polymorphism and the development of the DN in patients with T2DM indicating its potential predictive use in terms of the clinical follow-up, treatment selection and prognosis of DN.
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    Association of IL-10 (rs1800872) and IL-4R (rs1805010) polymorphisms with cervical intraepithelial lesions and cervical carcinomas
    (BAKIS Productions LTD, 2020)
    Duvlis, Sotirija
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    Noveski, Predrag
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    Ivkovski Ljube
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    Plaseska-Karanfilska, Dijana
    Purpose: Genetic characteristic of cytokines may influence cervical intraepithelial neoplasia (CIN) and cervical cancer (CCa) susceptibility. We analysed an association of IL-10592 A/C, IL-4R I75VA/G polymorphisms with susceptibility to human papillomavirus (HPV) positive CIN and CCa. Methods: Using multiplex PCR- SNaPShot analysis, 134 cases (HPV positive CINs and CCa) and 113 controls (HPV negative NILM) were genotyped for these two cytokine variants. Results: Data analyzed using odds ratio (OR) and chisquare (x2) test showed that the frequency of CC of IL-10-592 genotype was significantly higher in cases (67.2%) than in controls (49.6%) [CC vs CA+AA; p=0.005, OR=2.08 (95%CI: 1.24-3.49)] as well as the allelic frequency of major C allele (82.1%) in cases than in controls (72.6%) [p=0.01, OR=1.73 (95%CI: 1.13-2.66)]. Furthermore, AA genotype of IL-4RI75V had significantly lower frequency in CIN1 (25.0%) compared with CIN2+ group (30.8%) (p=0.03, OR=0.39, 95%CI: 0.141.11) after the stratifications of the cases in low grade and high grade with CCa as separate groups. Conclusion: We concluded that IL-10-592 A/AA variant indicates a protective role in cervical cancer development and the GG genotype of IL-4RI75V conferred protection against progression of CIN1 to CIN2+ or CCa among women from Republic of North Macedonia.