Browsing by Author "Goksen, Damla"

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    Association of vitamin D receptor polymorphisms and type 1 diabetes susceptibility in children: a meta-analysis
    (BIOSCIENTIFICA LTD, 2017-01-01) Sahin, Ozlem Atan; Goksen, Damla; Ozpinar, Aysel; Serdar, Muhittin; Onay, Huseyin
    Background: There have been studies focused on FokI, BsmI, ApaI and TaqI polymorphisms of the vitamin D receptor (VDR) gene and susceptibility to type 1 diabetes mellitus with controversial results. Methods: This present study is a meta-analysis investigating the association between FokI, ApaI, TaqI and BsmI polymorphisms of VDR gene and type 1 DM in children. A literature search was performed using Medline, EMBASE, Cochrane and PubMed. Any study was considered eligible for inclusion if at least one of FokI, ApaI, TaqI and BsmI polymorphisms was determined, and outcome was type 1 DM at pediatric age. Results: A total of 9 studies comprising 1053 patients and 1017 controls met the study inclusion criteria. The pooled odds ratios (ORs) of the FokI, ApaI, TaqI and BsmI polymorphisms were combined and calculated. Forest plots and funnel plots of the OR value distributions were drawn. Our meta-analysis has demonstrated statistically significant associations between DM1 and VDR genotypes, BsmIBB (P < 0.05), BsmIBb, (P < 0.05), BsmIbb (P < 0.05), TaqITT (P < 0.05) and TaqItt (P < 0.05) in children. Conclusion: The results indicated that BsmIBB, BsmIBb and TaqItt polymorphisms were associated with an increased risk of type 1 DM, whereas BsmIbb and TaqITT had protective effect for type 1 DM in children.
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    Molecular Diagnosis of Monogenic Diabetes and Clinical/Laboratory Features in Turkish Children
    (GALENOS YAYINCILIK, 2021-01-01) Goksen, Damla; Yesilkaya, Ediz; Ozen, Samim; Kor, Yilmaz; Eren, Erdal; Korkmaz, Ozlem; Berberoglu, Merih; Karaguzel, Gulay; Er, Eren; Abaci, Ayhan; Evliyaoglu, Olcay; Akbas, Emine Demet; Unal, Edip; Bolu, Semih; Nalbantoglu, Ozlem; Anik, Ahmet; Tayfun, Meltem; Buyukinan, Muammer; Abali, Saygin; Yilmaz, Gulay Can; Kor, Deniz; Sobu, Elif; Siklar, Zeynep; Polat, Recep; Darcan, Sukran
    Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6\%) female and 92 male cases with a mean age of 8.18 +/- 5.05 years at diagnosis were included. 52.7\% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2\%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6\% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3 +/- 2.1\%, 184.9 +/- 128.9 mg/dL, 9.4 +/- 22.9 IU/L, 1.36 +/- 1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2\%), HNF1A-MODY in 31 (18.3\%), and variants in ABCC8 in 6 (3.6\%), KCNJ11 in 5 (3\%), HNF4A in 2 (1.2\%), and HNF1B in 2 (1.2\%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50\%), while GCK-MODY is the second most frequent (32\%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20\% of cases were diagnosed with HNF1A-MODY.