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Öğe Association analysis of Epworth Sleepiness Scale (ESS) scores with serotonin transporter (5-HTT- LPR, 5-HTT-VNTR) and circadian (PER3-VNTR) genes(Thieme Medical Publ Inc, 2022) Ozen, Filiz; Yegin, Zeynep; Saglam, Zuhal Aydan; Yavlal, Figen; Koc, Haydar; Ulasoglu, CelalExcessive daytime sleepiness (EDS) is a common complaint encountered in clinical practice with serious consequences both for individual and society since it can increase the ratio of motor vehicle accidents, work-related incidents, and deaths. Moreover, it also manifests less serious individual consequences. This study aimed to investigate the potential role of PER3-VNTR, 5-HTT-LPR, and 5-HTT-VNTR in terms of constituting liability to EDS. Two hundred eighteen participants (93 complaining about daytime sleepiness and 125 individuals with no serious complaint) were recruited in the study. General daytime of sleepiness was quantified with Epworth sleepiness scale (ESS). DNA extractions were performed from collected blood samples with standart salting-out procedure and genotyped. ESS scores displayed difference between individuals suffering from sleep disturbances and other individuals with values of 12.75 +/- 4.55 and 6.34 +/- 4.26, respectively. PER3VNTR and 5-HTT-LPR genotypes did not display association with mean ESS scores. However, 5-HTT-VNTR genotypes showed significant association with mean ESS scores; individuals with 10/10 genotypes had the highest ESS score reflecting this genotype as a liability factor for EDS. We strongly recommend further studies based on circadian/serotonin pathway genes in different populations to reach to a consensus and highlight sleep genetic marker genes which then can be the future targets of pharmacological treatment studies for sleep problems.Öğe Lack of association between MAOA-uVNTR variants and excessive daytime sleepiness(Springer-Verlag Italia Srl, 2017) Ozen, Filiz; Yegin, Zeynep; Yavlal, Figen; Saglam, Zuhal Aydan; Koc, Haydar; Berber, IsmetSleep disorders are highly prevalent in the population and have dramatic health, social, and economic impacts. However, their treatments may remain symptomatic due to ignorance of molecular factors which may provide fundamental insights into the neurological bases of sleep. Excessive daytime sleepiness (EDS) is a common complaint encountered in neurological practice with significant effects both on individuals and on society. We aimed to investigate the role of monoamine oxidase A (MAOA) as a candidate gene in EDS. Epworth sleepiness scale (ESS) was applied to 221 subjects who were also genotyped for MAOA upstream variable number of tandem repeats (MAOA-uVNTR). Patient group displayed higher ESS values (mean 12.67) when compared with the control group (mean 6.38). However, MAOA-uVNTR genotypes did not show a significant association with ESS scores neither on women nor on men. Finally, these data suggest further replications in different populations. Moreover, the investigation of some other genes together with MAOA and/or some possible regulatory molecular mechanisms may offer a more comprehensive approach in the role of genetic factors contributing to EDS.Öğe MESANE TÜMÖRLÜ HASTALARIN KANLARINDA EPİGENETİK BİYOBELİRTEÇLER OLARAK PROTOKADERİN GEN AİLESİ ÜYELERİ PCDH8, PCDH10 VE PCDH17’NİN ARAŞTIRILMASI(2020) Yeğin, Zeynep; Ozen, Filiz; Koç, Haydar; Yildirim, Asif; Buyukalpelli, RecepAmaç: Çalışmanın amacı mesane tümörlü hastalarda vesağlıklı kontrollerde protokaderin gen ailesine ait olanprotokaderin 8 (PCDH8), protokaderin 10 (PCDH10) veprotokaderin 17 (PCDH17) genlerinin periferal kan DNAmetilasyon profillerini analiz ederek bu profillerin tümörspesifikolası etkilerini değerlendirmektir. Araştırılan üçgenin metilasyon profiliyle spesifik demografik ve/veyaklinikopatolojik veriler arasındaki olası ilişkininaraştırılması da çalışmanın ikinci hedefidir.Gereç ve Yöntemler: Mesane karsinomalı (n=80; düşükdereceli: 40, yüksek dereceli: 40) ve sağlıklı kontrollerin(n=40) periferal kan örneklerinden ekstrakte edilen genomikDNA promotor bölgelerinin hipermetilasyon analizi içinbisülfit modifikasyon ve metilasyon-spesifik PCR işleminemaruz bırakılmıştır.Bulgular: PCDH8 metilasyon profilinin yaşla birlikte artışgösterdiği gözlenmiştir. Neredeyse kontrollerin tamamındada bu genler bakımından kısmi metilasyon profilleribelirlendiği için hasta örneklerindeki PCDH10 ve PCDH17metilasyon paternleri bir farklılık oluşturmamakla beraberPCDH8 daha farklı bir kan epigenetik profili sergilemiştir.Sonuç: PCDH8 geninin kandaki metilasyon modelininyaşlanma süreciyle ilişkisi çalışmamızda gösterilmiştir.Mesane kanserindeki etkisi açısından daha kesin bir sonucavarabilmek için PCDH8’in kandaki metilasyon durumunundaha yüksek sayılı kohortta ve MethyLight gibi daha duyarlımetotlarla araştırılmasını tavsiye etmekteyiz.Öğe PER3 VNTR GENOTYPES MAY PREDICT OVERALL SURVIVAL IN BLADDER CANCER PATIENTS IN THE TURKISH POPULATION(2020) Yeğin, Zeynep; Ozen, Filiz; Altinisik, Yasin; Yıldırım, Ibrahım Halıl; Yildirim, AsifCircadian genes were proven to play significant roles in tumor development and progression via coordinating various cellular processes. Though circadian rhythm disturbances both on the level of expression and genetic variant analysis have been associated with increased risk for many cancer types, none has investigated the potential effect of PER3 VNTR in bladder tumorigenesis yet. In this study, we aimed to assess PER3 VNTR’s effect in terms of creating susceptibility to bladder carcinoma formation. Our second target was to enlighten the possible associations between PER3 genotypes and clinicopathological correlations in bladder carcinoma cohort and thus evaluate outcomes in bladder carcinoma prognosis. In this case-control study, 116 patients and 120 healthy controls were recruited. DNA was isolated from peripheral blood using the standard salting-out procedure and PER3 VNTR variants (ins/del polymorphism) were determined with PCR technique to distinguish the 5-repeats allele (401 bp) from the 4-repeats allele (347 bp). Though this exploratory analysis did not provide evidence supporting the role of PER3 VNTR in the onset of bladder carcinoma, it enabled us to make a risk assessment for the prognosis of bladder carcinoma patients. The survival times of patients decreased in the patient group (progression and cystectomy positive) for PER3 4/4 genotype and (recurrence, progression and cystectomy positive) for PER3 4/5 genotype. Results presented in this study are highly recommended to be investigated and validated in larger samples in different populations and ethnicities to generalize potential clinical utility.