scholarly journals FGFR4 c.1162G > A (p.Gly388Arg) Polymorphism Analysis in Turkish Patients with Retinoblastoma

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Demet Akdeniz Odemis ◽  
Seref Bugra Tuncer ◽  
Arash Adamnejad Ghafour ◽  
Khariga Jabbarli ◽  
Yasemin Gider ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Turkish Population ◽  
Control Group ◽  
Polymorphism Analysis ◽  
Rb1 Gene ◽  
Mutation Status ◽  
Retinal Growth ◽  
Transformation Activity ◽  
Aggressive Tumors ◽  
Turkish Patients

Purpose. Various molecular variations are known to result in different gene variants in the FGFR4 gene, known for its oncogenic transformation activity. The goal of this study was to investigate the FGFR4 p.Gly388Arg variant that plays role in the progression of cancer and retinal growth and may be an effective candidate variant in the Turkish population in retinoblastoma patients with no RB1 gene mutation. Methods. Using the Sanger sequencing methods, the FGFR4 p.Gly388Arg variant was bidirectionally sequenced in 49 patients with non-RB1 gene mutation in retinoblastoma patients and 13 healthy first-degree relatives and 146 individuals matched by sex and age in the control group. Results. In Turkish population-specific study, the FGFR4 p.Gly388Arg variant was found in 27 (55.1 percent) of 49 patients; mutation was found in 7 (53.8 percent) of these patients’ 13 healthy relatives screened. When FGFR4 p.Gly388Arg mutation status is evaluated in terms of 146 healthy controls, in 70 (47.9 percent) individuals, mutation was observed. Our analysis showed that the FGFR4 p.Gly388Arg allele frequency, which according to different databases is seen as 30 percent in the general population, is 50 percent common in the Turkish population. Conclusions. In patients with advanced retinoblastoma who were diagnosed with retinoblastoma prior to 24 months, the FGFR4 p.Gly388Arg allele was found to be significantly higher. As a result, these results indicate that the polymorphism of FGFR4 p.Gly388Arg may play a role in both the development of tumors and the progression of aggressive tumors.

Evaluation of HLA-A, -B, -Cw, and -DRB1 alleles frequency in Turkish patients with nasal polyposis

2008 ◽  
Vol 139 (4) ◽  
pp. 580-585 ◽  
Author(s):  
Bahar Keles ◽  
Tülin Cora ◽  
Hasan Acar ◽  
Hamdi Arbag ◽  
Ziya Inan ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Acetylsalicylic Acid ◽  
Genetic Susceptibility ◽  
Nasal Polyposis ◽  
Turkish Population ◽  
Control Group ◽  
Specific Primer ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Turkish Patients

Objective To evaluate whether there is a relationship between HLA-A, -B, -Cw, and -DRB1 alleles and developing nasal polyposis (NP). Study Design Data from 66 patients with NP were compared with data from 100 healthy randomly selected controls. Asthma, ASA (acetylsalicylic acid) triad, polyp score, and previous sinonasal surgery were also recorded. Subjects and Methods Genotyping of the HLA-A, -B, -Cw, and -DRB1 alleles were performed with polymerase chain reaction (PCR) with the sequence-specific primer (SSP) method. Data were analyzed by using a Pearson χ 2 test. Results The HLA-B*07 and -Cw*12 alleles were found to be significantly higher in the NP patients compared with the control group, whereas the HLA-B*57 and HLA-Cw*04 alleles were significantly lower ( P < 0.05). The HLA-A*24, HLA-Cw*12, and HLA-DRB1*04 alleles were determined to be significantly higher in the NP patients with asthma and ASA triad ( P < 0.05). Conclusions Our results show that some of the HLA alleles seem to be associated with the genetic susceptibility to develop NP in the Turkish population.

Prognostic factors and survival after whole-brain radiotherapy for initial brain metastases arising from non-small cell lung cancer

2021 ◽  
pp. 1-6
Author(s):  
Yukinori Okada ◽  
Mariko Kobayashi ◽  
Mio Shinozaki ◽  
Tatsuyuki Abe ◽  
Naoki Nakamura
Keyword(s):  
Prognostic Factors ◽  
Brain Metastasis ◽  
Brain Metastases ◽  
Gene Mutation ◽  
Stage Iv ◽  
Whole Brain Radiotherapy ◽  
Hazard Ratio ◽  
Small Cell Lung ◽  
Mutation Status ◽  
Brain Radiotherapy

Abstract Aim: To identify prognostic factors and investigate patient survival after whole-brain radiotherapy (WBRT) for initial brain metastases arising from non-small cell lung cancer (NSCLC). Methods: Patients diagnosed with NSCLC between 1 January 2010 and 30 September 2019, and who received WBRT upon first developing a brain metastasis, were investigated. Overall survival was determined as related to age, sex, duration between initial examination and brain metastasis detection, stage at the first examination, presence of metastases outside the brain, blood analysis findings, brain metastasis symptoms, radiotherapy dose and completion, imaging findings, therapeutic course of chemotherapy and/or radiation therapy, histological type, and gene mutation status. Results: Thirty-one consecutive patients (20 men and 11 women) with a mean age of 63·8 years and median survival of 129 days were included. Multivariate analysis with stepwise testing was performed to investigate differences in survival according to gene mutation status, lactate dehydrogenase (LDH) level, irradiation dose, WBRT completion and Stage status. Of these, a statistically significant difference in survival was observed in patients with gene mutation status (hazard ratio: 0·31, 95% CI: 0·11–0·86, p = 0·025), LDH levels <230 vs. ≥230 IU/L (hazard ratio: 4·08, 95% CI: 1·45–11·5, p < 0·01) received 30 Gy, 30 Gy/10 fractions to 35 Gy/14 fractions, and 37·5 Gy/15 fractions (hazard ratio: 0·26, 95% CI: 0·09–0·71, p < 0·01), and stage IV versus non-stage IV (hazard ratio: 0·13, 95 CI:0·02–0·64, p < 0·01) Findings: Gene mutation, LDH, radiation dose and Stage are prognostic factors for patients with initial brain metastases who are treated with WBRT.

scholarly journals Common Mediterranean Fever (MEFV) Gene Mutations Associated with Ankylosing Spondylitis in Turkish Population

2012 ◽  
Vol 33 (3) ◽  
pp. 113-118 ◽  
Author(s):  
Serbulent Yigit ◽  
Ahmet Inanir ◽  
Nevin Karakus ◽  
Esra Kesici ◽  
Nihan Bozkurt
Keyword(s):  
Ankylosing Spondylitis ◽  
Mefv Gene ◽  
Gene Mutations ◽  
Turkish Population ◽  
M694v Mutation ◽  
Significant Difference ◽  
Mediterranean Fever ◽  
Genomic Dnas ◽  
Polymerase Chain ◽  
Turkish Patients

Ankylosing spondylitis (AS) is a common inflammatory rheumatic disease. Mediterranean fever (MEFV) gene, which has already been identified as being responsible for familial Mediterranean fever (FMF), is also a suspicious gene for AS because of the clinical association of these two diseases. The aim of this study was to explore the frequency and clinical significance ofMEFVgene mutations (M694V, M680I, V726A, E148Q and P369S) in a cohort of Turkish patients with AS. Genomic DNAs of 103 AS patients and 120 controls were isolated and genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. There was a statistically significant difference of theMEFVgene mutation carrier rates between AS patients and healthy controls (p= 0.004, OR: 2.5, 95% CI: 1.32–4.76). This association was also observed in allele frequencies (p= 0.005, OR: 2.3, 95% CI: 1.27–4.2). A relatively higher frequency was observed for M694V mutation in AS patients than controls (10.7% versus 4.2% ,p= 0.060). There were no significant differences between MEFV mutation carriers and non-carriers with respect to the clinical and demographic characteristics. The results of this study suggest thatMEFVgene mutations are positively associated with a predisposition to develop AS.

The role of VEGF rs699947 polymorphism in End-Stage Renal Disease: A preliminary study

2021 ◽  
pp. 19-23
Keyword(s):  
Renal Disease ◽  
End Stage Renal Disease ◽  
Protective Factor ◽  
Public Health Problem ◽  
Turkish Population ◽  
Control Group ◽  
Case Group ◽  
Important Public Health Problem ◽  
Stage Renal Disease ◽  
End Stage

Aim: End-Stage Renal Disease (ESRD) is an important public health problem worldwide with an increasing incidence and prevalence. There are many environmental and genetic factors which contribute to the development of ESRD. Vascular endothelial growth factor (VEGF) has been suggested to play an important role in renal pathophysiology. The aim of this study was to determine the probable relation between ESRD and VEGF gene rs699947 polymorphism in Turkish population. Material and Method: Genotyping of rs699947 was carried out in 50 ESRD patients on dialysis treatment and 30 healthy controls, using a Kompetitive Allelic-Specific PCR (KASP) method following DNA isolation. Demographic and clinical characteristics of the patients were recorded. Results: The prevalance of rs699947 AA genotype was found to be higher in the control group, but it was not statistically significant (p>0.05) . Conclusion: Although statistically insignificant, the frequency of AA genotype was higher in the control group compared to the case group, therefore we concluded that AA genotype may be a protective factor for ESRD in Turkish population. However, this conclusion needs to be further verified by future studies performed in larger study groups.

scholarly journals Study of common chromosomal abnormalities and Plasminogen activator Inhibitor(PAI-1) gene Polymorphism (5G/4G) and Prothrombin (F2)gene mutation(G20210A) in women with recurrent abortions in the North West of Iran

2021 ◽  
Vol 43 (5) ◽  
pp. 400-409
Author(s):  
Roya Bagheri ◽  
Seyed ali Rahmani ◽  
Leila Khoramifar ◽  
Solmaz Ilkhichoui
Keyword(s):  
Plasminogen Activator ◽  
Gene Mutation ◽  
Chromosomal Abnormalities ◽  
Plasminogen Activator Inhibitor ◽  
Control Group ◽  
Control Groups ◽  
Recurrent Abortions ◽  
And Control ◽  
Activator Inhibitor ◽  
Pai 1

Background. Parental chromosomal abnormalities as well as changes in genes encoding thrombophilic factors are common causes of recurrent abortions. One of the causes of thrombophilia is Factor II (F2) gene mutation (G20210A) and plasminogen activator inhibitor gene (PAI-1) polymorphism (4G/5G). Therefore, the present study aimed to investigate the frequency of chromosomal abnormalities and the association of thrombophilic gene polymorphisms in patients with abortion in northwestern Iran. Methods. In the present case-control study, cytogenetic analysis of 60 couples with a history of recurrent abortions was performed by the standard 72-hour culture of lymphocytes and G-banding. The polymorphism (5G/4G) of PAI-1 gene and the mutation (G20210A) of F2 genes were evaluated using RFLP-PCR and ARMS-PCR molecular methods, respectively. The obtained data were analyzed using statistical software. Results. No significant abnormalities affecting abortion were observed in cytogenetic studies; in the molecular study, the frequency of the 4G allele in patients and control groups were 54.2% and 33.3%, respectively; the frequency of 5G allele in the patients and control groups were 45.8% and 66.8%, respectively. The frequency of 5G/5G and 4G/5G genotypes is 25.0% and 41.6% in the patient group, and 55.0% and 23.3% in the control group, respectively. Also, the frequency of 4G/4G genotype in patients and controls were 33.3% and 21.6%, respectively. Conclusion. The results of this study show that there is a significant relationship between the frequency of the 4G allele of the PAI-1 gene with susceptibility to recurrent abortions in northwestern women, while no was relationship between F2 gene mutation and recurrent abortions was observed.

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