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    Adverse effect of VEGFR-2 (rs1870377) polymorphism on the clinical course of COVID-19 in females and males in an age-dependent manner
    (Elsevier, 2023) Kocakap, Derya Beyza Sayin; Kaygusuz, Sedat; Aksoy, Emel; Sahin, Omer; Baccioglu, Ayse; Ekici, Aydanur; Kalpaklioglu, Ayse Fusun
    The COVID-19 pandemic has affected people worldwide with varying clinical presentations ranging from mild to severe or fatal, and studies have found that age, gender, and some comorbidities can influence the severity of the disease. It would be valuable to have genetic markers that might help predict the likely outcome of infection. For this objective, genes encoding VEGFR-2 (rs1870377), CCR5D32 (rs333), and TLR3 (rs5743313) were analyzed for polymorphisms in the peripheral blood of 160 COVID-19 patients before COVID-19 vaccine was available in Turkiye. We observed that possession of the VEGFR-2 rs1870377 mutant allele increased the risk of severe/moderate disease in females and subjects >= 65 years of age, but was protective in males <65 years of age. Other significant results were that the CCR5D32 allele was protective against severe disease in subjects >= 65 years of age, while TLR3 rs5743313 polymorphism was found to be protective against severe/moderate illness in males <65 years of age. The VEGFR-2 rs1870377 mutant allele was a risk factor for severe/moderate disease, particularly in females over the age of 65. These findings suggest that genetic polymorphisms have an age-and sex-dependent influence on the severity of COVID-19, and the VEGFR-2 rs1870377 mutant allele could be a potential predictor of disease severity.(c) 2023 Institut Pasteur. Published by Elsevier Masson SAS. All rights reserved.
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    The association of paraoxonase 1 gene L55M polymorphism with the extent and severity of coronary artery disease in the Turkish population and its dependence on gender
    (Turkish Soc Cardiology, 2016) Kocakap, Derya Beyza Sayin; Dogru, Mehmet Tolga; Simsek, Vedat; Cabuk, Feryal; Yildirim, Nesligul; Celik, Yunus; Erdem, Solmaz
    Objective: Coronary artery disease (CAD) is a common, complex, and progressive disorder characterized by the accumulation of lipids and fibrous elements in the arteries. It is one of the leading causes of death in industrialized nations. Oxidative modification of low-density lipoprotein (LDL) in the arterial wall plays an important role in the initiation and progression of atherosclerosis. Paraoxonase1 (PON1) is involved in lipid metabolism and is believed to protect LDL oxidation. In our study, we aimed to clarify the relationship between PON1 gene L55M polymorphism and the extent and severity of CAD. Methods: In total, 114 patients (54 males, mean age: 56.7 +/- 12.0 years; 60 females, mean age: 55.7 +/- 13.2 years) with stable angina or angina equivalent symptoms were enrolled in this prospective study. Cardiological evaluation was performed with electrocardiogram and transthoracic echocardiogram. The presence of hypertension, dyslipidemia, diabetes, and smoking status were ascertained. The patients were grouped according to their Gensini scores and gender. Genetic analysis of the PON1 gene L55M polymorphism was performed by polymerase chain reaction-restriction fragment length polymorphism. Results: We determined that the LL genotype was more prevalent in patients with Gensini score higher than or equal to 20 (p=0.026) and that this correlated with severe atherosclerotic coronary artery lesions in both gender groups, reaching a statistical significance in the female subjects (p=0.038). Conclusion: It was thought that the PON1 gene L55M polymorphism plays a significant role in CAD progression, especially in females.
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    Clinical significance of MEFV gene variation R202Q
    (Springer London Ltd, 2022) Kandur, Yasar; Kocakap, Derya Beyza Sayin; Alpcan, Aysegul; Tursun, Serkan
    Background The aim of this study was to evaluate the phenotypic features and the clinical significance of the R202Q mutation of the MEFV gene. Methods We retrospectively reviewed the medical records of Familial Mediterranean Fever patients with M694V/- and M694V/R202Q mutations. We compared the patients regarding disease severity, symptoms, age at the onset of symptoms, gender, consanguinity, and family history. Results Twenty-one patients (9 males, 12 females) had compound heterozygote mutation (M694V/R202Q), and 37 patients (23 males, 14 females) had M694V/- mutation. The mean age of the patients at the time of diagnosis was 7.3 +/- 4.3 and 9.2 +/- 3.7 years. The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p= < 0.001). The mean severity score was higher in M694V/R202Q heterozygote group although it did not reach statistical significance (8.43 +/- 1.69 vs 7.49 +/- 1.50; p= 0.082). However, the rate of having a high severity score was significantly higher in the M694V/R202Q mutation group than in the other group (47.6% vs 21.6%, respectively; p= 0.039). The rate of arthritis was significantly higher in patients with M694V/R202Q heterozygote mutation than those with M694V/- heterozygote mutation (76.2% vs 32.4%; p= < 0.001). Conclusion Our finding supports the possibility that R202Q may be pathogenic rather than a variation. We found that the R202Q mutation is associated with the inflammatory phenotype of FMF; hence, the typical clinical findings of FMF especially arthritis can be observed in patients with compound mutation including R202Q.
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    Do CCR5 (CCR5?32) and TLR3 (RS5743313) gene polymorphisms prevent chronic hepatitis B infection?
    (Wiley, 2023) Tuncel, Burcin; Kaygusuz, Sedat; Kocakap, Derya Beyza Sayin; Aksoy, Emel; Azkur, Ahmet Kursat
    Hepatitis B virus (HBV) is still a significant health problem in human. HBV severity or sensitivity of patients may be based on the individual genetic factors significantly. The aim of this study is to investigate the association of CCR5 (CCR5 Delta 32), TLR3 (rs5743313) functional gene polymorphisms, interferon-gamma (IFN-?) level in HBV infection, which are thought to play an important role in innate and acquired immunity in patients who have undergone HBV seroconversion and those who have chronic hepatitis B disease and receive treatment. One hundred patients who are became naturally immune against HBV infection (HBsAg negative, anti-HBc IgG, and anti-HBs IgG positive), and 100 patients with chronic hepatitis B infection (>6 months HBsAg positive) who are receiving oral antiviral therapy were compared for CCR5 Delta 32, TLR3 (rs5743313) genotypes and serum IFN-gamma level. It was found that CCR5 Delta 32 polymorphism (Wt/Delta 32 and Delta 32/Delta 32) was significantly higher in the chronic hepatitis B group (p=0.048) but not for TLR3 gene polymorphism. However, serum IFN-gamma level was significantly higher in the HBV seroconversion group (75 +/- 89ng/ml) than in the chronic hepatitis B group (4.35 +/- 17.27ng/ml) (p < 0.001). In conclusion, a higher CCR5 Delta 32 allele frequency in patients with chronic hepatitis B might be considered as a marker of progression to chronic hepatitis.
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    The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey
    (Springer, 2014) Kocakap, Derya Beyza Sayin; Gunel-Ozcan, Aysen; Cabuk, Feryal; Ensari, Cuneyt
    In this study we have retrospectively analysed the mutation spectrum of the 351 Familial Mediterranean fever patients referred to KA +/- rA +/- kkale University Faculty of Medicine, Department of Medical Genetics Laboratory over a period of 5 years and compared them with Turkey's mean. We have found 11 different mutations, including rare mutations such as F479L, K695R, M680I(G/A) and 45 different genotypes showing the heterogeneity of MEFV mutations in Central Anatolia. The most three prevalent mutations were M694V (14.8 %), E148Q (7.1 %) and M680I(G/C) (4.1 %) in accordance with the literature. We have also investigated R202Q in our routine molecular diagnosis. Mutation causing R202Q (c.605G > A) change was described as a frequent polymorphism and G allele was found in linkage disequilibrium (LD) with M694V. There are limited number of studies investigating R202Q, some of them implicate that its homozygote state is disease causing. We showed the high frequency of R202Q (23.7 %) with and without M694V in all the groups analysed and its high LD rate with M694V in the diagnosed group. Our study is reflecting the mutational heterogeneity of MEFV and summarize mutational spectrum of Turkey's geographical regions and overall Turkey.
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    Interleukin (IL)-17F (H161R) and IL-23R (R381Q) Gene Polymorphisms in Turkish Population with Periodontitis
    (Amber Publication, 2015) Erdemir, Ebru Olgun; Hendek, Meltem Karsiyaka; Kocakap, Derya Beyza Sayin; Ozkan, Serdar Yucel
    Background: Periodontitis is triggered by periodontal pathogens and influenced by environmental and genetic factors. Genes encoding molecules related to the immune response are the main candidates for polymorphisms analysis and may be possibly associated with this pathology. Aim: The aim of the study was to evaluate the interleukin (IL)-17F Histidine161Arginine (H161R) and IL-23R Arginine381Glycine (R381Q) gene polymorphisms in patients with periodontitis in Turkish population. Materials and Methods: 90 periodontally healthy, 90 patients with chronic periodontitis and 57 patients with generalized aggressive periodontitis were included in the study. Participants were identified through clinical examinations and radiographs. DNA was isolated from venous blood samples from each patient and genotype analyses were made for single nucleotide polymorphisms (SNPs). Data were analyzed using the x(2) test. Results: The comparison of allelic, genotypic frequencies of the IL-17F (H161R) and IL-23R (R381Q) polymorphisms revealed no significant differences between the periodontally healthy individuals and patients with periodontal diseases. Conclusion: On the basis of the present findings, it can be suggested that IL-17F gene (H161R) and IL-23R gene (R381Q) polymorphisms are not associated with the susceptibility to periodontitis in Turkish population.
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    Maternal Blood Group Is a Possible Predictor for Developing Congenital Heart Disease in Turkish Children with Down's Syndrome
    (Georg Thieme Verlag Kg, 2024) Kandur, Yasar; Kocakap, Derya Beyza Sayin; Alpcan, Aysegul; Sanli, Cihat; Sayan, Cemile Dayangan; Koyuncu, Omer Lutfi
    We aimed to evaluate the clinical characteristics and the risk factors for the anomalies of Down's syndrome (DS) patients and reviewed the relation of blood groups of the patients and the mothers with these anomalies. Pediatric patients who were diagnosed with trisomy 21 between 2010 and 2022 were enrolled in this study. The medical records of the DS patients and their parents were retrospectively reviewed. A total of 48 patients applied to our clinic. 24 (50%) patients were diagnosed with congenital heart disease. 21 (43.75%) patients had hypothyroidism. The distribution of individual congenital heart defects (CHDs) was as follows: ventricular septal defect in eight (33.3%) patients, one of which also had patent ductus arteriosus (PDA); atrioventricular septal defects in seven (29.1%) patients; atrial septal defects in four (16.6%) patients, one of which also had patent ducus arteriosus; and PDA in five (20.8%) patients. One (4.2%) patient had tetralogy of Fallot. The incidence of CHD in patients with maternal blood group A was significantly higher than those without CHD, with a prevalence of 63.6 and 21.1%, respectively ( p = 0.020). Binary logistic regression analysis showed that maternal blood group A was a risk factor for CHDs (odds ratio = 6.563; 95% confidence interval: 1.259-34.204; p = 0.025). Although we found that the rate of advanced father age was high in hypothyroidism type, the regression analysis showed that it was not a risk factor. We found that maternal blood group A increased the likelihood of being born with CHDs in DS.