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Öğe Association among ABCA7 Gene Polymorphism, rs3764650 and Alzheimer's Disease in the Turkish Population(Canadian Soc Clinical Investigation, 2015) Oznur, Murat; Hatipoglu, Omer F.; Ayturk, Zubeyde; Dede, Serap; Akbas, Kubra; Aydin, Duygu; Urhan, AysePurpose: Alzheimer's disease (AD), the most common form of dementia, is an irreversible and progressive neurodegenerative disease that is characterized by the progressive loss of cognitive functions, behavioral and psychological disorders and a decrease in daily routine activities. Among people aged 65 years and over, AD is steadily increasing. Genome-wide association studies have shown that various gene polymorphisms are highly associated with the pathogenesis of AD. Among them, ABCA7 gene polymorphism has been identified as one of the genetic risks. The purpose of this study was to investigate the relationship among ABCA7 gene polymorphism, rs3764650 and AD, and to determine if it could be use as a biomarker for AD susceptibility in the Turkish population. Methods: Peripheral blood samples of 54 Alzheimer's patients and 57 control subjects were collected. Genomic DNA was isolated by SDS/proteinase K treatment followed by phenolchloroform extraction and ethanol precipitation. The presence of the ABCA7 gene rs3764650 polymorphism was investigated by PCR-RFLP and selected samples were confirmed by DNA sequencing. Results: In the Turkish population, the ABCA7 gene rs3764650 polymorphism did not show a significant association with AD when compared with the control group (p>0.05). APOE-epsilon 3 allele frequencies were higher in both AD patients and control subjects (76.85% and 84.21%, respectively). Conclusion: Both previously published studies and our current study did not cover the complete genetic variation in the gene. To detect variants that are disease-related, studies with larger sample sizes are needed.Öğe Association of Clusterin (CLU) Gene Polymorphism, Rs11136000, with Alzheimer's Disease and Diabetes in the Turkish Population(Canadian Soc Clinical Investigation, 2015) Ciftci-Yilmaz, Sultan; Oznur, Murat; Ayturk, Zubeyde; Dede, Serap; Cigdem, Sadik; Eroglu, Esra; Onal, FethiPurpose: Alzheimer's disease (AD), the most common form of dementia, is characterized by abnormal protein storage in the brain and primarily causes a progressive loss of memory and all other cognitive functions. According to the World Health Organization (WHO) report, AD is steadily increasing among people 65 years of age and over. Genome wide association studies have shown that various gene polymorphisms are highly associated with the occurrence of AD. Among them, clusterin (CLU) gene polymorphism was identified as one of the highest genetic risks in late-onset AD. Our aim was to investigate the relation of CLU rs11136000 and AD and its potential use as a biomarker for AD susceptibility in the Turkish population. Methods: 50 samples obtained from AD patients and 55 samples obtained from a control group were used for the presented study. Genomic DNA was isolated from peripheral blood by SDS/proteinase K treatment followed by phenol-chloroform extraction and ethanol precipitation. Presence of the CLU rs11136000 polymorphism was investigated by PCR-RFLP and selected samples were confirmed by DNA sequencing. Chi-square test was used for statistical analysis. Results: In the Turkish population, the CLU rs11136000 polymorphism did not show a significant association with AD as compared with the control group (p>0.05). Polymorphic CLU-C allele of AD patients showed an increased association with diabetes (p=0.015) as compared with CLU-T allele of AD patients, whereas in the control group the CLU-C allele did not show a significant association with diabetes (p=0.332). Conclusion: Individuals with diabetes and polymorphic CLU-C allele may have a higher susceptibility to develop AD later in life.Öğe Coffin-Siris syndrome with cafe-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene(Int Research & Cooperation Assoc Bio & Socio-Sciences Advancement, 2016) Sonmez, Fatma Mujgan; Uctepe, Eyyup; Gunduz, Mehmet; Gormez, Zeliha; Erpolat, Seval; Oznur, Murat; Sagiroglu, Mahmut SamilCoffin-Siris syndrome (CSS) (MIM 135900) is characterized by developmental delay, severe speech impairment, distinctive facial features, hypertrichosis, aplasia or hypoplasia of the distal phalanx or nail of the fifth digit and agenesis of the corpus callosum. Recently, it was shown that mutations in the ARID1B gene are the main cause of CSS, accounting for 76% of identified mutations. Here, we report a 15 year-old female patient who was admitted to our clinic with seizures, speech problems, dysmorphic features, bilaterally big, large thumb, cafe-au-lait (CAL) spots, obesity and hyperinsulinism. First, the patient was thought to have an association of neurofibromatosis and Rubinstein Taybi syndrome. Because of the large size of the NF1 gene for neurofibromatosis and CREBBP gene for Rubinstein Taybi syndrome, whole exome sequence analysis (WES) was conducted and a novel ARID1B mutation was identified. The proband WES test identified a novel heterozygous frameshift mutation c.3394_3395insTA in exon 13 of ARID1B (NM_017519.2) predicting a premature stop codon p.(Tyr1132Leufs*67). Sanger sequencing confirmed the heterozygous c. 3394_3395insTA mutation in the proband and that it was not present in her parents indicating de novo mutation. Further investigation and new cases will help to understand this phenomenon better.Öğe Loss of heterozygosity in ING3 and ING5 genes in breast cancer(Tubitak Scientific & Technological Research Council Turkey, 2014) Gunduz, Esra; Nas, Gokhan; Acar, Muradiye; Uctepe, Eyyup; Bozer, Mikdat; Oznur, Murat; Bayrak, ReyhanThe tumor suppressor genes (TSGs) ING3 and ING5, members of the inhibitor of growth gene family, are effective in inhibition of cell growth and induction of apoptosis. However, in many cancer types, one of the alleles of a TSG is lost through carcinogenesis, while the remaining allele is usually inactivated through a process called loss of heterozygosity (LOH). Previous studies in head and neck cancer revealed that allelic loss and reduced expression is a common pattern of ING gene family members. Fifty paraffin-embedded breast cancer tissues were analyzed by polymerase chain reaction and denatured-polyacrylamide gel electrophoresis for LOH status. The allelic deletion frequency of ING3 and ING5 were detected as 14% and 17% in breast cancer patients, respectively. No significant relationship was detected between ING3 LOH status and clinicopathological variables. Our data also suggest that both ING3 and ING5 LOH statuses have no significant effect in overall survival and disease-free survival of breast cancer patients. These results provide a rational explanation and relative contribution for the complexity of tumor formation, whereby allelic loss of ING3 and ING5 genes is not a major factor for breast cancer but is rather a part of a larger complex mechanism.Öğe The role of human Dectin-1 Y238X gene polymorphism in recurrent vulvovaginal candidiasis infections(Springer, 2014) Usluogullari, Betul; Gumus, Ilknur; Gunduz, Esra; Kaygusuz, Ikbal; Simavli, Serap; Acar, Muradiye; Oznur, MuratRecurrent vulvovaginal candidiasis (RVVC) is defined as having four or more symptomatic vulvovaginal candidiasis (VVC) attacks within a year. This study aimed to investigate whether Human Dectin-1 Y238X Gene Polymorphism plays a role in RVVC pathogenesis. In order to examine and explore this aim, an experimental study was undergone. The clinical study design was conducted with 50 women diagnosed with RVVC and had four or more symptomatic VVC attacks who were included in the experimental group; while 50 women who did not have previous RVVC history and diagnosis and did not have vaginal discharge and itching in the past year were included in the control group. Blood samples were collected from these patients and transferred to EDTA tubes, to investigate the Dectin-1 Y238X gene polymorphism, and stored at -80A degrees. When Dectin-1 genotypes were compared, there was no significant difference between the two groups (p = 0.452, p = 0.615, p = 0.275). History of familial RVVC was significantly higher in the experimental group (p = 0.001). When the multivariate analysis was used to evaluate factors that could determine RVVC frequency, history of familial RVVC was found to increase the frequency of RVVC attacks by 3.3 units. This study is the first-of-its-kind to investigate the correlation between Dectin-1 Y238X polymorphism, which has not been previously studied in the Turkish population, and RVVC. The result of this study suggests that there is no correlation between this polymorphism and RVVC.
