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    Association of IL-1Β (-511 C /T) and IL-1Β (-31 T / C) gene polymorphism with endoplasmic reticulum stress marker levels in acute decompensated heart failure with low ejection fraction
    (Serbian Genetics Soc, 2022) Sabırlı, Ramazan; Koseler, Aylin; Mete, Ergun; Turkcuer, Ibrahim
    Inflammatory processes play an important role in the pathogenesis of heart failure. The accumulation of unfolded protiens in the endoplasmic reticulum lumen and the unfolded protien response signal path is activated. The IL-IB gene is located in the Chromsone 2.q14 region. -31 and -511 single nucleotide polymorphisms (SNPs) were detected in the IL-IB Promoter region. These two SNPs affect IL-1expression. This Study aims to investigate the presence of IL-IB (-511 C / T) and IL-IB (-31 T / C) gene polymorphisms and the relationship between ER Stress markers and the inflammatory markers. Patients who applied to the department of emergency medicine with the findings of acute decompensated heart failure. Polymorphic sites of the IL-IB gene were determined by DNA sequencing. In all study, individuals with IL-IB (-31 T / C) T allele have higher serum PERK, GRP-78, CHOP AND CRP levels median values than individuals with IL-IB (-31 T/C) C allele (p = 0.00001, p = 0.0002, p = 0.002 and p = 0.011, respectively). Serum ERK and GRP-78 Values in HF Group were higher in individuals with IL-IB (-31 T / C) T allele compared to individuals with C alle (p = 0.0001 and p = 0.0006). There was a statistically difference in serum CHOP levels in the control group with the IL-IB (-511 C / T) T allele and the individuals with the C allele in the HF group (p= 0.002). In Cnclusion we consider that the inflammatory response caused by IL-IB (-31 T / C) gene polymorphism increased and the ER stress response increased, inflammatory pathway and stress of having IL-IB (-31 T / C) T / T genotype or T allele.
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    Öğe
    The methylome of buccal epithelial cells is influenced by age, sex, and physiological properties
    (Amer Physiological Soc, 2023) Protti, Giulia; Rubbi, Liudmilla; Goren, Tarik; Sabirli, Ramazan; Civlan, Serkan; Kurt, Ozgur; Turkcuer, Ibrahim
    Epigenetic modifications, particularly DNA methylation, have emerged as regulators of gene expression and are implicated in various biological processes and disease states. Understanding the factors influencing the epigenome is essential for unraveling its complexity. In this study, we aimed to identify how the methylome of buccal epithelial cells, a noninvasive and easily accessible tissue, is associated with demographic and health-related variables commonly used in clinical settings, such as age, sex, blood immune composition, hemoglobin levels, and others. We developed a model to assess the association of multiple factors with the human methylome and identify the genomic loci significantly impacted by each trait. We demonstrated that DNA methylation variation is accurately modeled by several factors. We confirmed the well-known impact of age and sex and unveiled novel clinical factors associated with DNA methylation, such as blood neutrophils, hemoglobin, red blood cell distribution width, high-density lipoprotein cholesterol, and urea. Genomic regions significantly associated with these traits were enriched in relevant transcription factors, drugs, and diseases. Among our findings, we showed that neutrophil-impacted loci were involved in neutrophil functionality and maturation. Similarly, hemoglobin-influenced sites were associated with several diseases, including aplastic anemia, and the genomic loci affected by urea were related to congenital anomalies of the kidney and urinary tract. Our findings contribute to a better understanding of the human methylome plasticity and provide insights into novel factors shaping DNA methylation patterns, highlighting their potential clinical implications as biomarkers and the importance of considering these physiological traits in future medical epigenomic investigations.