RESUMEN
OBJECTIVES: To comprehensively investigate the potential association between prostate cancer (PCa) and the G84E mutation within the Homeobox Protein B13 (HOXB13) gene among individuals of Turkish descent, our study aims to undertake a prospective examination. METHODS: We evaluated 300 patients (150 diagnosed with prostate cancer, 150 controls) who presented in our clinic. Data collected were prospectively examined. DNA isolation was performed using an isolation kit. The HOXB13-G84E mutation (rs138213197) was analyzed in the obtained samples. Data encoding and statistical analysis were performed. RESULTS: The pathological allele for the G84E mutation was T. According to the findings, no mutations were detected in the control group, while the G84E mutation was detected in 17 patients in the patient group, all of whom had the TC genotype. The analysis showed that having the CC genotype reduced the risk of prostate cancer by 0.47 times (OR=0.47, CI=0.415-0.532). Our results did not support a trend toward family history or earlier-onset disease in comparisons between carriers and non-carriers of HOXB13 G84E mutation. Individuals with a positive family history exhibited a higher frequency of the G84E mutation. CONCLUSIONS: We concluded that HOXB13 gene mutation is indeed linked to PCa in Turkish men. However, we did not find a relationship between the HOXB13 gene G84E mutation carrier status and either early-onset PCa or familial PCa in Turkish men.
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Proteínas de Homeodominio , Mutación , Neoplasias de la Próstata , Humanos , Masculino , Proteínas de Homeodominio/genética , Neoplasias de la Próstata/genética , Anciano , Persona de Mediana Edad , Turquía , Estudios Prospectivos , Genotipo , Estudios de Casos y ControlesRESUMEN
Objectives: The aim of this study is to investigate the relationship between pseudoexfoliation syndrome (XFS) and pseudoexfoliative glaucoma (XFG) and endothelial nitric oxide synthase (eNOS) G894T polymorphism. Methods: Seventy-eight eyes of 78 patients who had undergone uncomplicated cataract surgeries for senile cataract were included in this study. Forty patients with XFS were included in the study group, and 38 patients without XFS constituted the control group. Patients with XFS were divided into two subgroups according to their XFG development, and subgroup analysis was performed. Venous blood samples were taken from all patients before surgery and 894 G>T (rs1799983) polymorphism on the eNOS gene was evaluated by RT-PCR. Results: While the mean age in the control group was 65.97±10.64 years (23 males and 15 females), the mean age in the study group was 73.05±6.79 years (30 males and 10 females), (p<0.001). Regression analysis of the risks caused by the genotype and alleles between the control and study groups revealed that the homozygous alleles were more common in the study group, and heterozygous or mutant alleles have reduced the development of XFS approximately 2-folds. However, this was not statistically significant (p=0.11). Similarly, when subgroup analysis was performed, it was found that there was no significant relationship between XFG in patients with XFS and gene polymorphism. Conclusion: In this study, it was observed that there was no relationship between the G894T polymorphism in the eNOS gene and the development of XFS/XFG.
RESUMEN
OBJECTIVES: The aim of this study was to investigate the expression levels of miR-126-3p, miR-182-5p, miR-183-5p, miR-184, miR-221-3p, and miR-205-5p in primary pterygium tissue and compare these levels with those in healthy conjunctiva tissue. METHODS: Twenty-four patients who were diagnosed with grade 3 primary pterygium and scheduled for surgery between January 2014 and January 2016 and had no systemic disease or other ocular pathology were included in the study. The control group comprised nasal interpalpebral conjunctival tissue specimens from 24 age- and sex-matched patients with no history of systemic disease or ocular pathology other than cataract. Expression levels of miR-126-3p, miR-182-5p, miR-183-5p, miR-184, miR-221-3p, and miR-205-5p were determined and compared between the pterygium and conjunctiva specimens. RESULTS: Expression levels of miR-182-5p, miR-183-5p, and miR-184 were significantly higher in pterygium tissue compared with normal conjunctival specimens (P<0.0001, P=0.01, and P=0.01, respectively), whereas expression of miR-221-3p was significantly lower (P=0.02). Expression levels of miR-126-3p and miR-205-5p did not differ significantly between the 2 groups (P>0.05). CONCLUSIONS: Expression levels of miR-182-5p, miR-183-5p, and miR-184 are increased, whereas expression of miR-221-3p is decreased in primary pterygium tissue, and these miRNAs may play a role in the pathogenesis of pterygium.
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Conjuntiva/metabolismo , Regulación de la Expresión Génica/fisiología , MicroARNs/genética , Pterigion/genética , Anciano , Femenino , Perfilación de la Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena en Tiempo Real de la PolimerasaRESUMEN
PURPOSE: In the present study, we aimed to investigate the changes in plasma miRNA in patients with wet age-related macular degeneration. METHODS: The expression profiles of 384 miRNAs in plasma from 33 patients (22 male, 11 female) who were diagnosed with wet age-related macular degeneration with fundus examination, fundus fluorescein angiography, and optical coherence tomography and 31 controls (17 male, 14 female) were evaluated using high-throughput quantitative real-time PCR. RESULTS: Our results demonstrated that the expression level of five miRNAs (miR-17-5p, miR-20a-5p, miR-24-3p, miR-106a-5p, and miR-223-3p) was significantly upregulated in patients with age-related macular degeneration when compared to the control group (p<0.05). The expression level of 11 miRNAs (miR-21-5p, miR-25-3p, miR-140-3p, miR-146b-5p, miR-192-5p, miR-335-5p, miR-342-3p, miR-374a-5p, miR-410, miR-574-3p, and miR-660-5p) was significantly downregulated in patients (p<0.05). In addition, ten miRNAs (miR-26b-5p, miR-27b-3p, miR-29a-3p, miR-139-3p, miR-212-3p, miR-324-3p, miR-324-5p, miR-532-3p, miR-744-5p, and miR-Let-7c) were expressed only in the patient group. CONCLUSIONS: Our results suggest that plasma miRNA levels may change in wet age-related macular degeneration. These molecules may have an important therapeutic target in patients who are unresponsive to antivascular endothelial growth factor therapy. However, further studies must be conducted for possible effects of miRNAs in vascular disorders of eye such as age-related macular degeneration.
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MicroARNs/sangre , MicroARNs/genética , Degeneración Macular Húmeda/sangre , Degeneración Macular Húmeda/genética , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Estudios de Casos y Controles , Femenino , Expresión Génica , Marcadores Genéticos , Humanos , Masculino , Persona de Mediana Edad , Reacción en Cadena en Tiempo Real de la Polimerasa , Degeneración Macular Húmeda/diagnósticoRESUMEN
The aim of this study is to evaluate the role of IL28B rs12979860 polymorphism on pegylated interferon (peg IFN) and oral antiviral treatment in chronic hepatitis B (CHB) patients and to investigate the relationship between the severities of illness with this polymorphism. 74 CHB patients who are received treatment, 61 asymptomatic carriers and 40 healthy controls were recruited in this study. Genomic DNA of controls and patients were extracted from whole blood using High Pure PCR Template Preparation Kit (Roche, Mannheim, Germany) according to the manufacturer's instructions and stored at 4 °C. Genotype distribution of the IL-28B polymorphism at position -3176C/T (rs12979860) (LightMix Kit IL28B, Cat.-No. 40-0588-32 TIB MOLBIOL, Berlin, Germany) was detected by real time PCR (Roche Diagnostics, Manheim, Germany). Thirty of the patients with CHB received peg IFN-α treatment. There were no significant difference between groups by means of age, gender and IL28B rs12979860 polymorphism (p = 0.122, p = 0.07, p = 0.376 respectively). Patients with chronic hepatitis were categorized as grade and stage (minimal, moderate and severe) and then were analyzed for the polymorphism. There was no effect of IL28B -3176 C/T polymorphism on severity of illness (p = 0.293 for grade, p = 0.911 for stage). When the CHB treatment monitored in different time arrivals (beginning, 3th, 6th and 12th months of the treatment) in order to see if there was an effect on virological and biological response none of the genotypes of IL28B -3176C/T polymorphism altered peg IFN or oral antiviral treatment process. There are conflicting results about the role of IL28B rs12979860 polymorphism in CHB in the literature. In this preliminary study, we observed that IL28B rs12979860 polymorphism was not related with severity of illness and also was not effective on treatment response.