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ALEMDAR, ADEM

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SAĞLIK BİLİMLERİ ENSTİTÜSÜ

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ALEMDAR

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ADEM

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DPYD c.1905+1G>A promotes fluoropyrimidine-induced anemia, a prognostic factor in disease-free survival, in colorectal cancer
(Mary Ann Liebert, Inc, 2021-04-01) Deligönül, Adem; Aksoy, Seçil; Tezcan, Gülçin; Tunca, Berrin; Kanat, Özkan; Çubukcu, Erdem; Yılmazlar, Tuncay; Öztürk, Ersin; Egeli, Ünal; Çeçener, Gülşah; Alemdar, Adem; Evrensel, Türkkan; DELİGÖNÜL, ADEM; AKSOY, SEÇİL; TEZCAN, GÜLÇİN; TUNCA, BERRİN; Kanat, Özka; ÇUBUKÇU, ERDEM; YILMAZLAR, AHMET TUNCAY; EGELİ, ÜNAL; ÇEÇENER, GÜLŞAH; ALEMDAR, ADEM; EVRENSEL, TÜRKKAN; Sağlık Bilimleri Enstitüsü; Tıbbi Onkoloji Ana Bilim Dalı; 0000-0002-6400-4911; 0000-0002-5956-8755; 0000-0002-1619-6680; 0000-0001-8593-5101; 0000-0001-7904-883X; 0000-0002-3820-424X; HIZ-7332-2022; AAH-1420-2021; AAH-3843-2020; ESM-4544-2022; JDG-0330-2023; ABI-6078-2020; CYM-0930-2022; ETP-1691-2022; CKK-3621-2022; AAP-9988-2020; EXZ-0745-2022
Background and Aim: In 10-30% of colorectal cancer (CRC) patients, toxic reactions occur after fluoropyrimidine-based chemotherapy. A dihydropyridine dehydrogenase (DPYD) gene variant, c.1905 + 1G>A, leads to intolerance to fluoropyrimidines. Due to the low frequency of this variant in many populations, the prevalence of fluoropyrimidine-induced hematologic side effects in CRC patients with the c.1905 + 1G>A variant is unclear. In this study, we investigated the prevalence of the DPYD c.1905 + 1 variants in a Turkish CRC cohort and the potential effects of these variants on fluoropyrimidine-induced hematologic side effects.Materials and Methods: The DPYD c.1905 + 1 variant was genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis and confirmed by Sanger sequencing in peripheral blood samples of 100 CRC patients who received fluoropyrimidine-based chemotherapy and 60 healthy volunteers. The association of c.1905 + 1 variants with susceptibility to hematologic side effects was evaluated.Results: The DPYD c.1905 + 1G>A variant was more common in the CRC group than in the healthy control group (p = 0.001). The presence of the c.1905 + 1G>A variant was associated with thrombocytopenia (p = 0.039) and anemia (p = 0.035). CRC patients with fluoropyrimidine-induced anemia had shorter disease-free survival than CRC patients without fluoropyrimidine-induced anemia (p = 0.0009).Conclusions: Before administering fluoropyrimidine-based chemotherapy, genetic screening for the DPYD c.1905 + 1G>A variant should be performed with the aim of preventing anemia and anemia-induced complications in CRC patients.
Investigation of infectious droplet dispersion in a hospital examination room cooled by split-type air conditioner
(Springer, 2024-05-08) Yüce, Bahadir Erman; Kalay, Onur Can; Karpat, Fatih; Alemdar, Adem; Temel, Şehime Gülsün; Dilektaşlı, Aslı Görek; Başkan, Emel Bülbül; Özakın, Cüneyt; Coşkun, Burhan; YÜCE, BAHADIR ERMAN; Kalay, Onur Can; KARPAT, FATİH; ALEMDAR, ADEM; TEMEL, ŞEHİME GÜLSÜN; GÖREK DİLEKTAŞLI, ASLI; BÜLBÜL BAŞKAN, EMEL; ÖZAKIN, CÜNEYT; COŞKUN, BURHAN; Tıp Fakültesi; Histoloji ve Embriyoloji Ana Bilim Dalı
The novel coronavirus (SARS-CoV-2) outbreak has spread worldwide, and the World Health Organization (WHO) declared a global pandemic in March 2020. The transmission mechanism of SARS-CoV-2 in indoor environments has begun to be investigated in all aspects. In this regard, many numerical studies on social distancing and the protection of surgical masks against infection risk have neglected the evaporation of the particles. Meanwhile, a 1.83 m (6 feet) social distancing rule has been recommended to reduce the infection risk. However, it should be noted that most of the studies were conducted in static air conditions. Air movement in indoor environments is chaotic, and it is not easy to track all droplets in a ventilated room experimentally. Computational Fluid Dynamics (CFD) enables the tracking of all particles in a ventilated environment. This study numerically investigated the airborne transmission of infectious droplets in a hospital examination room cooled by a split-type air conditioner with the CFD method. Different inlet velocities (1, 2, 3 m/s) were considered and investigated separately. Besides, the hospital examination room is a model of one of the Bursa Uludag University Hospital examination rooms. The patient, doctor, and some furniture are modeled in the room. Particle diameters considered ranged from 2 to 2000 mu m. The evaporation of the droplets is not neglected, and the predictions of particle tracks are shown. As a result, locations with a high infection risk were identified, and the findings that could guide the design/redesign of the hospital examination rooms were evaluated.
Diagnostic efficiency of clinical exome solution panel in patients with hearing loss/hereditary deafness by using next generation sequencing
(Springernature, 2020-12-01) ; Sağ, Şebnem Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Alemdar, A.; ALEMDAR, ADEM; Yılmaz, M.; Aliyeva, L.; ALIYEVA, LAMIYA; Temel Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Tıp Fakültesi; Genetik Top Ana Bilim Dalı; 0000-0002-9802-0880; HIZ-7332-2022; AAH-8355-2021; AAG-8385-2021
Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
(Springer Heidelberg, 2022-01-31) Dundar, Munis; Fahrioglu, Umut; Yildiz, Saliha Handan; Bakir-Gungor, Burcu; Temel, Sehime Gulsun; Akin, Haluk; Artan, Sevilhan; Cora, Tulin; Sahin, Feride Iffet; Dursun, Ahmet; Sezer, Ozlem; Gurkan, Hakan; Erdogan, Murat; Gunduz, C. Nur Semerci; Bisgin, Atil; Ozdemir, Ozturk; Ulgenalp, Ayfer; Percin, E. Ferda; Yildirim, Malik Ejder; Tekes, Selahaddin; Bagis, Haydar; Yuce, Huseyin; Duman, Nilgun; Bozkurt, Gokay; Yararbas, Kanay; Yildirim, Mahmut Selman; Arman, Ahmet; Mihci, Ercan; Eraslan, Serpil; Altintas, Zuhal Mert; Aymelek, Huri Sema; Ruhi, Hatice Ilgin; Tatar, Abdulgani; Ergoren, Mahmut Cerkez; Cetin, G. Ozan; Altunoglu, Umut; Caglayan, Ahmet Okay; Yuksel, Berrin; Ozkul, Yusuf; Saatci, Cetin; Kenanoglu, Sercan; Karasu, Nilgun; Dundar, Bilge; Ozcelik, Firat; Demir, Mikail; Siniksaran, Betul Seyhan; Kulak, Hande; Kiranatlioglu, Kubra; Baysal, Kubra; Kazimli, Ulviyya; Akalin, Hilal; Dundar, Ayca; Boz, Mehmet; Bayram, Arslan; Subasioglu, Asli; Colak, Fatma Kurt; Karaduman, Neslihan; Gunes, Meltem Cerrah; Kandemir, Nefise; Aynekin, Busra; Emekli, Rabia; Sahin, Izem Olcay; Ozdemir, Sevda Yesim; Onal, Muge Gulcihan; Senel, Abdurrahman Soner; Poyrazoglu, Muammer Hakan; Kisaarslan, Ayse Nur Pac; Gursoy, Sebnem; Baskol, Mevlut; Calis, Mustafa; Demir, Huseyin; Zararsiz, Gozde Erturk; Erdogan, Mujgan Ozdemir; Elmas, Muhsin; Solak, Mustafa; Ulu, Memnune Sena; Thahir, Adam; Aydin, Zafer; Atasever, Umut; Sag, Sebnem Ozemri; Aliyeva, Lamiya; Alemdar, Adem; Dogan, Berkcan; Erguzeloglu, Cemre Ornek; Kaya, Niyazi; Ozkinay, Ferda; Cogulu, Ozgur; Durmaz, Asude; Onay, Huseyin; Karaca, Emin; Durmaz, Burak; Aykut, Ayca; Cilingir, Oguz; Aras, Beyhan Durak; Gokalp, Ebru Erzurumluoglu; Arslan, Serap; Temena, Arda; Haziyeva, Konul; Kocagil, Sinem; Bas, Hasan; Susam, Ezgi; Keklikci, Ali Riza; Sarac, Elif; Kocak, Nadir; Nergiz, Suleyman; Terzi, Yunus Kasim; Dincer, Selin Akad; Baskin, Esra Sidika; Genc, Gunes Cakmak; Bahadir, Oguzhan; Sanri, Aslihan; Yigit, Serbulent; Tozkir, Hilmi; Yalcintepe, Sinem; Ozkayin, Nese; Kiraz, Aslihan; Balta, Burhan; Gonen, Gizem Akinci; Kurt, E. Emre; Ceylan, Gulay Gulec; Ceylan, Ahmet Cevdet; Erten, Sukran; Bozdogan, Sevcan Tug; Boga, Ibrahim; Yilmaz, Mustafa; Silan, Fatma; Kocabey, Mehmet; Koc, Altug; Cankaya, Tufan; Bora, Elcin; Bozkaya, Ozlem Giray; Ercal, Derya; Ergun, Mehmet Ali; Ergun, Sezen Guntekin; Duman, Yesim Sidar; Beyazit, Serife Busra; Uzel, Veysiye Hulya; Em, Serda; Cevik, Muhammer Ozgur; Eroz, Recep; Demirtas, Mercan; Firat, Cem Koray; Kabayegit, Zehra Manav; Altan, Mustafa; Mardan, Lamiya; Sayar, Ceyhan; Tumer, Sait; Turkgenc, Burcu; Karakoyun, Hilal Keskin; Tunc, Betul; Kuru, Seda; Zamani, Aysegul; Geckinli, Bilgen Bilge; Ates, Esra Arslan; Clark, Ozden Altiok; Toylu, Asli; Coskun, Mert; Nur, Banu; Bilge, Ilmay; Bayramicli, Oya Uygur; Emmungil, Hakan; Komesli, Zeynep; Zeybel, Mujdat; Gurakan, Figen; Tasdemir, Mehmet; Kebudi, Rejin; Karabulut, Halil Gurhan; Tuncali, Timur; Kutlay, Nuket Yurur; Kahraman, Cigdem Yuce; Onder, Nerin Bahceciler; Beyitler, Ilke; Kavukcu, Salih; Tulay, Pinar; Tosun, Ozgur; Tuncel, Gulten; Mocan, Gamze; Kale, Hamdi; Uyguner, Zehra Oya; Acar, Aynur; Altinay, Mert; Erdem, Levent; TEMEL, ŞEHİME GÜLSÜN; ÖZEMRİ SAĞ, ŞEBNEM; ALIYEVA, LAMIYA; ALEMDAR, ADEM; DOĞAN, BERKCAN; Ergüzeloğlu, Cemre Örnek; Kaya, Niyazi; Sağlık Bilimleri Enstitüsü; Tıbbi Genetik Ana Bilim Dalı; 0000-0001-8061-8131; AAG-8385-2021; AAH-8355-2021; CCG-4609-2022; HIZ-7332-2022; AAD-5249-2020; EXQ-7887-2022; FEL-0562-2022
Familial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.
A multicenter study of genotype variation/demographic patterns in 2475 individuals including 1444 cases with breast cancer in Turkey
(Galenos Yayınevi, 2023-07-01) Boğa, İbrahim; Sağ, Şebnem Özemri; Duman, Nilgün; Özdemir, Sevda Yeşim; Ergören, Mahmut Çerkez; Dalcı, Kubilay; Mujde, Cem; Parsak, Cem Kaan; Rencuzoğullari, Çağla; Sönmezler, Özge; Yalav, Orçun; Alemdar, Adem; Aliyeva, Lamiya; Bozkurt, Özlem; Çetintaş, Sibel; Çubukcu, Erdem; Deligönül, Adem; Doğan, Berkcan; Ergüzeloğlu, Cemre Örnek; Evrensel, Türkkan; Gökgöz, Şehsuvar; Şenol, Kazım; Tolunay, Şahsine; Akyürek, Esra; Başgöz, Neslihan; Gökçe, Nuriye; Dündar, Bilge; Öztürk, Figen; Taşkın, Duygu; Demirtaş, Mercan; Çağ, Murat; Diker, Ömer; Olgun, Polat; Bozdoğan, Sevcan Tuğ; Dündar, Munis; Bişgin, Atıl; Temel, Şehime Gülsün; ÖZEMRİ SAĞ, ŞEBNEM; ALIYEVA, LAMIYA; DOĞAN, BERKCAN; TEMEL, ŞEHİME GÜLSÜN; ALEMDAR, ADEM; Ergüzeloğlu, Cemre Örnek; EVRENSEL, TÜRKKAN; BOZKURT, ÖZLEM; TOLUNAY, ŞAHSİNE; ÇETİNTAŞ, SİBEL; ÇUBUKÇU, ERDEM; DELİGÖNÜL, ADEM; GÖKGÖZ, MUSTAFA ŞEHSUVAR; ŞENOL, KAZIM; Tıp Fakültesi; Tıbbi Onkoloji Ana Bilim Dalı; 0000-0001-8061-8131 ; IYV-1877-2023; CCG-4609-2022; AAD-5249-2020; IRT-7350-2023; HIZ-7332-2022; EXQ-7887-2022; EXZ-0745-2022; IJL-9778-2023; AAI-1612-2021; EOI-5652-2022; ETP-1691-2022; ESM-4544-2022; EXK-4525-2022; KGQ-4411-2024; GZC-2526-2022
Objective: Breast cancer (BC) is the most common cancer type in women and may be inherited, mostly in an autosomal dominant pattern. The clinical diagnosis of BC relies on the published diagnostic criteria, and analysis of two genes, BRCA1 and BRCA2, which are strongly associated with BC, are included in these criteria. The aim of this study was to compare BC index cases with non-BC individuals in terms of genotype and diagnostic features to investigate the genotype/demographic information association. Materials and Methods: Mutational analyses for the BRCA1/BRCA2 genes was performed in 2475 individuals between 2013-2022 from collaborative centers across Turkey, of whom 1444 with BC were designated as index cases.Results: Overall, mutations were identified in 17% (421/2475), while the percentage of mutation carriers in cases of BC was similar, 16.6% (239/1444). BRCA1/BRCA2 gene mutations were detected in 17.8% (131/737) of familial cases and 12% (78/549) of sporadic cases. Mutations in BRCA1 were found in 4.9%, whereas 12% were in BRCA2 (p<0.05). Meta-analyses were performed to compare these results with other studies of Mediterranean-region populations.Conclusion: Patients with BRCA2 mutations were significantly more common than those with BRCA1 mutations. In sporadic cases, there was a lower proportion with BRCA1/BRCA2 variants, as expected, and these results were consistent with the data of Mediterranean-region populations. However, the present study, because of the large sample size, revealed more robust findings than previous studies. These findings may be helpful in facilitating the clinical management of BC for both familial and non-familial cases.
Contribution of genotypes in Prothrombin and Factor V Leiden to COVID-19 and disease severity in patients at high risk for hereditary thrombophilia
(Wiley, 2023-02-01) Kiraz, Aslıhan; Sezer, Özlem; Alemdar, Adem; Canbek, Sezin; Duman, Nilgün; Bişgin, Atıl; Cora, Tülin; Ruhi, Hatice Ilgın; Ergören, Mahmut Çerkez; Geçkinli, Bilgen Bilge; Sağ, Şebnem Özemri; Gözden, Hilmi Erdem; Öz, Özlem; Altıntaş, Zühal Mert; Yalçıntepe, Sinem; Keskin, Adem; Tak, Ayşegüel Yabacı; Paskal, Şeyma Aktaş; Yürekli, Uğur Fahri; Demirtaş, Mercan; Evren, Emine Ünal; Hanta, Abdullah; Başdemirci, Müeşerref; Süer, Kaya; Balta, Burhan; Kocak, Nadir; Karabulut, Halil Guerhan; Çobanoğulları, Havva; Ateş, Esra Arslan; Bozdoğan, Sevcan Tuğ; Eker, Damla; Ekinci, Sadiye; Nergiz, Sueleyman; Tuncali, Timur; Yagbasan, Serap; Alavanda, Ceren; Kutlay, Nuket Yurur; Evren, Hakan; Erdogan, Murat; Altiner, Sule; Sanlidag, Tamer; Gonen, Gizem Akinci; Vicdan, Arzu; Eras, Nazan; Eker, Hatice Kocak; Balasar, Özgür; Tuncel, Gulten; Dündar, Munis; Gürkan, Hakan; ALEMDAR, ADEM; ÖZEMRİ SAĞ, ŞEBNEM; TEMEL, ŞEHİME GÜLSÜN; Gozden, Hilmi Erdem; Tıp Fakültesi; Tıbbi Genetik Ana Bilim Dalı; ELA-3536-2022; IYV-1877-2023; JMQ-2372-2023; IRT-7350-2023
Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease and the development of thrombosis. This study investigated FII and FVL alleles in a cohort of 9508 patients (2606 male and 6902 female) with thrombophilia. It was observed that 930 of these patients had been infected by SARS-CoV-2 causing COVID-19. The demographic characteristics of the patients and their COVID-19 medical history were recorded. Detailed clinical manifestations were analyzed in a group of cases (n = 4092). This subgroup was age and gender-matched. FII and FVL frequency data of healthy populations without thrombophilia risk were obtained from Bursa Uludag University Medical Genetic Department's Exome Databank. The ratio of males (31.08%; 27.01%) and the mean age (36.85 & PLUSMN; 15.20; 33.89 & PLUSMN; 14.14) were higher among COVID-19 patients compared to non-COVID-19 patients. The prevalence of FVL and computerized tomography (CT) positivity in COVID-19 patients was statistically significant in the thrombotic subgroup (p < 0.05). FVL prevalence, CT positivity rate, history of thrombosis, and pulmonary thromboembolism complication were found to be higher in deceased COVID-19 patients (p < 0.05). Disease severity was mainly affected by FVL and not related to genotypes at the Prothrombin mutations. Overall, disease severity and development of thrombosis in COVID-19 are mainly affected by the variation within the FVL gene. Possible FVL mutation should be investigated in COVID-19 patients and appropriate treatment should be started earlier in FVL-positive patients.
Analysis of ACE2 and TMPRSS2 coding variants as a risk factor for SARS-CoV-2 from 946 whole-exome sequencing data in the Turkish population
(Wiley, 2022-07-22) Duman, Nilgün; Tuncel, Gülten; Bisgin, Atil; Bozdoğan, Sevcan Tug; Sağ, Şebnem Özemri; Gül, Şeref; Kiraz, Aslıhan; Balta, Burhan; Erdoğan, Murat; Uyanık, Bülent; Canbek, Sezin; Ata, Pınar; Geçkinli, Bilgen Bilge; Ateş, Esra Arslan; Alavanda, Ceren; Özdemir, Sevda Yeşim; Sezer, Özlem; Özgon, GÜlay Öner; Gürkan, Hakan; Güler, Kübra; Boğa, İbrahim; Kaya, Niyazi; Alemdar, Adem; Sayan, Murat; Dündar, Munis; Ergören, Mahmut Çerkez; Temel, Şehime Gülsün; ÖZEMRİ SAĞ, ŞEBNEM; Kaya, Niyazi; ALEMDAR, ADEM; TEMEL, ŞEHİME GÜLSÜN; Sağlık Bilimleri Enstitüsü; Tıbbi Genetik Ana Bilim Dalı; 0000-0002-9802-0880; AAH-8355-2021; FEL-0562-2022; HIZ-7332-2022; AAG-8385-2021
Heterogeneity in symptoms associated with COVID-19 in infected patients remains unclear. ACE2 and TMPRSS2 gene variants are considered possible risk factors for COVID-19. In this study, a retrospective comparative genome analysis of the ACE2 and TMPRSS2 variants from 946 whole-exome sequencing data was conducted. Allele frequencies of all variants were calculated and filtered to remove variants with allele frequencies lower than 0.003 and to prioritize functional coding variants. The majority of detected variants were intronic, only two ACE2 and three TMPRSS2 nonsynonymous variants were detected in the analyzed cohort. The main ACE2 variants that putatively have a protective or susceptibility effect on SARS-CoV-2 have not yet been determined in the Turkish population. The Turkish genetic makeup likely lacks any ACE2 variant that increases susceptibility to SARS-CoV-2 infection. TMPRSS2 rs75603675 and rs12329760 variants that were previously defined as common variants that have different allele frequencies among populations and may have a role in SARS-CoV-2 attachment to host cells were determined in the population. Overall, these data will contribute to the formation of a national variation database and may also contribute to further studies of ACE2 and TMPRSS2 in the Turkish population and differences in SARS-CoV-2 infection among other populations.
Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey
(Churchill Livingstone, 2022-10-01) Bisgin, Atıl; Sağ, Şebnem Özemri; Doğan, Muhammet E.; Yıldırım, Mahmut S.; Gümüş, Aydeniz Aydın; Akkuş, Nejmiye; Balasar, Özgür; Durmaz, Ceren D.; Eröz, Recep; Altiner, Şule; Alemdar, Adem; Aliyeva, Lamia; Boğa, İbrahim; Cam, Fethi S.; Dorgan, Berkcan; Esbah, Onur; Hanta, Abdullah; Mujde, Cem; Örnek, Cemre; Özer, Sinem; Rencuzogullari, Çağla; Sönmezler, Özge; Bozdoğan, Sevcan Tug; Dündar, Munis; Temel, Şehime Gülsün; ÖZEMRİ SAĞ, ŞEBNEM; ALEMDAR, ADEM; Aliyeva, Lamia; Dorgan, Berkcan; Ornek, Cemre; TEMEL, ŞEHİME GÜLSÜN; Sağlık Bilimleri Enstitüsü; Tıbbi Genetik Ana Bilim Dalı; 0000-0001-8061-8131; AAH-8355-2021; HIZ-7332-2022; GNQ-9697-2022; AAD-5249-2020; GNQ-4763-2022; AAG-8385-2021
BRCA1/2 mutations play a significant role in cancer pathogenesis and predisposition particularly in breast, ovarian and prostate cancers. Thus, germline analysis of BRCA1 and BRCA2 is essential for clinical management strategies aiming at the identification of recurrent and novel mutations that could be used as a first screening approach. We analyzed germline variants of BRCA1/2 genes for 2168 individuals who had cancer diagnosis or high risk assessment due to BRCAs related cancers, referred to 10 health care centers distributed across 7 regions covering the Turkish landscape. Overall, 68 and 157 distinct mutations were identified in BRCA1 and BRCA2, respectively. Twenty-two novel variants were reported from both genes while BRCA2 showed higher mutational heterogeneity. We herein report the collective data as BRCA Turkish consortium that confirm the molecular heterogeneity in BRCAs among Turkish population, and also as the first study presenting the both geographical, demographical and gene based landscape of all recurrent and novel mutations which some might be a founder effect in comparison to global databases. This wider perspective leads to the most accurate variant interpretations which pave the way for the more precise and efficient management affecting the clinical and molecular aspects.
Biomarker potential of urine miR-451 at different stages of diabetic nephropathy
(Omics Int Pvt Ltd, 2016-02-01) Sayılar, Emel Işıktaş; Güllülü, Mustafa; Tuncel, Ercan; Peynirci, Hande; Alemdar, Adem; Tunca, Berrin; Egeli, Ünal; Çeçener, Gülşah; Bayındır, Murat; Coşgun, Gökhan; Sayılar, Emel Işıktaş; GÜLLÜLÜ, MUSTAFA; Tuncel, Ercan; Peynirci, Hande; ALEMDAR, ADEM; TUNCA, BERRİN; EGELİ, ÜNAL; ÇEÇENER, GÜLŞAH; Bayındır, Murat; Coşgun, Gökhan; Tıp Fakültesi; Endokrinoloji ve Metabolizma Ana Bilim Dalı; 0000-0002-1619-6680; 0000-0001-7904-883X; 0000-0002-3820-424X; W-2575-2017; CTG-8811-2022; EBN-7188-2022; GRY-0605-2022; ELA-3536-2022; ABI-6078-2020; AAH-1420-2021; AAP-9988-2020; CFN-0933-2022; ERH-7786-2022
Aims: To evaluate the potential of urinary miR-451 as a biomarker at different stages of diabetic nephropathy.Methods: A total of 45 subjects having stage 3 chronic kidney disease (n=15) or stage 5 chronic kidney disease (n=15) and 15 healthy volunteers were included. Data on patient demographics, laboratory findings [creatinine, estimated glomerular filtration rate, urinary protein excretion] target genes and functions of the selected MicroRNAs associated with diabetic nephropathy and fold differences in the level of MicroRNA expression in blood and urine and the correlation of urine and plasma MicroRNA expression with estimated glomerular filtration rate were recorded.Results: MiR-195 expression level among stage 3 chronic kidney disease patients was higher in plasma samples compared to the control group, while it was significantly lower in the urine samples (p=0.036). In the stage 5 chronic kidney disease patient group, while the expression level was significantly higher in the plasma samples (p=0.005), urine sample expression was lower but not significantly different than the control group. Compared to the controls, miR-451 expression level was higher in the plasma samples of stage 3 chronic kidney disease patients, but significantly lower in the urine samples (p=0.019). Among the stage 5 chronic kidney disease patients, there was significantly higher level of expression in plasma samples (p=0.007) and significantly lower expression in urine samples (p=0.022) than the control group.Conclusions: Our study is original with its investigation of MicroRNA expressions at different stages of chronic kidney disease. Especially the statistically significant changes in the expression of miR-195 and miR-451 make these MicroRNAs come forward as good noninvasive biomarker candidates.
Alzheimer disease associated loci: APOE single nucleotide polymorphisms in Marmara Region
(MDPİ, 2024-05-01) Ismail, Aya Badeea; Dundar, Mehmet Sait; Erguzeloglu, Cemre Ornek; Ergoren, Mahmut Cerkez; Alemdar, Adem; Sag, Sebnem Ozemri; Temel, Sehime Gulsun; Alemdar, Adem; ALEMDAR, ADEM; Sağ, Şebnem Özemri; ÖZEMRİ SAĞ, ŞEBNEM; Temel, Şehime Gülsün; TEMEL, ŞEHİME GÜLSÜN; Tıp Fakültesi; Histoloji ve Embriyoloji Ana Bilim Dalı
Alzheimer's disease (AD) is a major global health challenge, especially among individuals aged 65 or older. According to population health studies, Turkey has the highest AD prevalence in the Middle East and Europe. To accurately determine the frequencies of common and rare APOE single nucleotide polymorphisms (SNPs) in the Turkish population residing in the Marmara Region, we conducted a retrospective study analyzing APOE variants in 588 individuals referred to the Bursa Uludag University Genetic Diseases Evaluation Center. Molecular genotyping, clinical exome sequencing, bioinformatics analysis, and statistical evaluation were employed to identify APOE polymorphisms and assess their distribution. The study revealed the frequencies of APOE alleles as follows: epsilon 4 at 9.94%, epsilon 2 at 9.18%, and epsilon 3 at 80.68%. The gender-based analysis in our study uncovered a tendency for females to exhibit a higher prevalence of mutant genotypes across various SNPs. The most prevalent haplotype observed was epsilon 3/epsilon 3, while rare APOE SNPs were also identified. These findings align with global observations, underscoring the significance of genetic diversity and gender-specific characteristics in comprehending health disparities and formulating preventive strategies.