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    Association between bronchopulmonary dysplasia and MBL2 and IL1-RN polymorphisms
    (Wiley, 2012) Cakmak, Bilin Cetinkaya; Calkavur, Sebnem; Özkınay, Ferda; Koroglu, Ozge Altun; Onay, Huseyin; Itirli, Gulcin; Karaca, Emin; Yalaz, Mehmet; Akisu, Mete; Kultursay, Nilgun
    Background: The imbalance between pro-inflammatory and anti-inflammatory cytokines may play a role in the development of bronchopulmonary dysplasia (BPD) in preterm infants. Mannose binding lectin (MBL) codon 54 and interleukin 1 receptor antagonist gene (IL1-RN) polymorphisms cause genetic predisposition to increased risk of infection and inflammation, therefore may increase the risk of BPD. The aim of this study was to investigate the relationship between MBL, IL1-RN gene polymorphisms and BPD development in preterm infants. Methods: MBL codon 54 and IL1-RN polymorphisms were studied in 71 infants who were born at <32 weeks of gestation, with the diagnosis of BPD (group 1) and in a control group of preterm infants without BPD (group 2). Results: IL1-RN and MBL2 variant genes were closely associated with increased risk of BPD (both P < 0.001) together with significantly lower birthweight (P < 0.001 and P = 0.001, respectively), lower 5 min Apgar scores (P = 0.009 for both genes) and increased neonatal infection rate (P < 0.001 and P < 0.009, respectively). The IL1 RN 1/1 genotype was protective (odds ratio [OR], 0.075; 95% confidence interval [CI]: 0.019-0.76) while the IL1-RN 2/2 genotype increased the risk for BPD (OR, 11.7; 95% CI: 1.3-103.6). The MBL-AA genotype was protective against BPD (OR, 0.066; 95% CI: 0.02-0.2) whereas the MBL-BB genotype increased the susceptibility for the development of BPD (OR, 23.8; 95% CI: 2.8-200.6). Conclusion: MBL and IL 1 RN polymorphisms are closely related to low birthweight and increase the risk of neonatal sepsis and BPD development in preterm infants.
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    Evidence of an association between mannose binding lectin codon 54 polymorphism and adenoidectomy and/or tonsillectomy in children
    (Elsevier Ireland Ltd, 2007) Koturoglu, Guldane; Onay, Huseyin; Midilli, Rasit; Pehlivan, Sacide; Eren, Erdem; Itirli, Gulcin; Kurugol, Zafer; Apaydin, Fazil; Özkınay, Cihangir; Özkınay, Ferda
    Mannose binding lectin (MBL) is a calcium-dependent lectin that plays an important role innate immunity by activating the complement pathway. There have been a number of studies describing an association between the MBL genotype and disease susceptibility. MBL deficiency has been described as one of the factors leading to a number of infections in children with recurrent upper respiratory tractus infections (URTI). We hypothesized that MBL deficiency may be associated with recurrent URTI, which requires adenoidectomy and/or adenotonsillectomy. In this study to clarify this hypothesis we investigated whether there may be an association between two tow producing MBL variants and adenoidectomy and/or tonsillectomy due to recurrent URTI in children. Blood samples were collected, adenoidectomy and/or tonsillectomy due to recurrent URTI and 50 controls (mean age 80.53 +/- 32.62 months). In all patients and controls codon 54 and codon 57 polymorphisms of the MBL gene were analyzed. None of the subjects from the patient group and control group carried codon 57 polymorphism of the MBL gene. The frequency of low-level MBL genotypes (AB and BB) for codon 54 polymorphism in the patient group was found to be significantly higher compared to the control subjects (55.7% versus 14%) (p < 0.001). This study shows that the presence of low-level MBL alleles is associated with adenoidectomy and/or tonsillectomy caused by recurrent URTI in children. (c) 2007 Elsevier Ireland Ltd. All rights reserved.
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    Interleukin-1 receptor antagonist and tumour necrosis factor-alpha gene polymorphisms in Turkish patients with allergic contact dermatitis
    (Wiley-Blackwell Publishing, Inc, 2009) Ertam, Ilgen; Itirli, Gulcin; Onay, Huseyin; Alper, Sibel; Özkınay, Ferda
    Background It has been shown that the family of interleukin-1 receptor antagonist (IL-1 RA) and tumour necrosis factor-alpha (TNF alpha) genes are polymorphic and related to some inflammatory diseases. Allergic contact dermatitis is the classic presentation of delayed-type hypersensitivity responses to exogenous agents. A number of genes playing role in inflammatory response may be associated with allergic contact dermatitis. Objectives To investigate whether there is an association between IL-1RA and TNF alpha gene polymorphisms and allergic contact dermatitis in Turkish patients with allergic contact dermatitis. Methods This study was performed by the collaboration of Departments of Dermatology and Medical Genetics, Ege University, Faculty of Medicine. A total of 50 patients (31 females and 19 males) with allergic contact dermatitis, and 100 age- and sex-matched controls (58 females and 42 males) were included in the study. IL-1RA Variable Number of Tandem Repeats (VNTR) polymorphism in intron 2 and TNF alpha-308G-A polymorphism were genotyped by using polymerase chain reaction and agarose gel electrophoresis. Results The frequency of IL-1RA 1/2 (48%) genotype was significantly higher (P = 0.002) in patient group than that is found in control group (22%). The frequency of TNF alpha (TNF G-308A) G/G genotype was significantly higher in patient group (68%) than that is found in control group (31%) (P = 0.008). Conclusions Our findings suggest that TNF alpha (G/G) gene polymorphism may play role in susceptibility to allergic contact dermatitis in Turkish patients.