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 ± 15.20; 33.89 ± 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.
Objective: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although ...it is thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature.
Methods: Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method.
Results: No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found.
Conclusion: Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey. KCI Citation Count: 2
Although BRCA genes are well-known breast cancer genes, the clinicopathological features of breast cancer patients carrying BRCA1/2 pathogenic variants have not been adequately defined. The goals ...of this study were to determine the distribution of BRCA1/2 variants in the Turkish population and its correlation with clinicopathological features. Clinical data of 151 women who underwent BRCA1/2 gene testing at Mersin University Medical Faculty Hospital between 2016 and 2019 were retrospectively analyzed. BRCA1/2 variants were detected as pathogenic (n = 11), variants of uncertain significance (n = 5), likely benign (n = 3), and benign (n = 81) in breast cancer cases. The BRCA1/2 pathogenic variant carriers had a higher histological grade, rate of triple- negative type, Ki-67 proliferation index, and rate of no special type carcinoma than the group without mutation (p = 0.03, 0.01, 0.04, and 0.02 respectively). We analyzed the distribution of variants we detected in women living in our region and found that pathogenic variants in patients with breast cancer were associated with high histological grade, triple-negative type, high Ki-67 proliferation index, and histological type. Studies in diverse populations are needed to establish a clinicopathological relationship with variants more easily.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairment in social skills and communication with repetitive behaviors. Etiology is still unclear although it is ...thought to develop with interaction of genes and environmental factors. Oxytocin has extensive effects on intrauterine brain development. Vitamin D, affects neural development and differentiation and contributes to the regulation of around 900 genes including oxytocin receptor gene. In the present study, the contribution of D vitamin receptor and oxytocin receptor gene polymorphisms in the development of ASD in Turkish community was investigated. To our knowledge, this is the first study examining these two associated genes together in the literature.
Eighty-five patients diagnosed with ASD according to DSM-5 who were referred to outpatient clinics of Child and Adolescent Psychiatry of Başkent University and Mersin University and 52 healthy, age and gender-matched controls were included in the present study. Vitamin D receptor gene rs731236 (Taq1), rs2228570 (Fok1), rs1544410 (Bsm1), rs7975232 (Apa1) polymorphisms and oxytocin receptor gene rs1042778 and rs2268493 polymorphisms were investigated using real time polymerase chain reaction method.
No significant difference between groups in terms of distribution of genotype and alleles in each of polymorphisms for these genes could be found.
Knowledge of genes and polymorphisms associated with the development of ASD may be beneficial for early diagnosis and future treatment. Further studies with larger populations are required to demonstrate molecular pathways which may play part in the development of ASD in Turkey.
Objective: A couple with recurrent spontaneous abortions has been referred to cytogenetic laboratory of Medical Biology and Genetics Department for chromosomal analysis. Material and methods: For ...chromosome analysis, peripheral blood culture was performed. The samples were stained by Giemsa Technique (GTG). Results: Twenty metaphase chromosomes were karyotyped, and 46,XY,t(4;13)(q31.3-q33) karyotype was identified in the case. As a result of the analysis, his wife was found to have normal karyotype. He had balanced translocation between chromosome 4 and 13 breakpoints in bands: der(4) monosomy 4qteràq31.3, trisomy 13qà33qter, and der(13) trisomy 4qteràq31.3, monosomy13qà33qter. Conclusions: Although no phenotypically abnormalities were found in the male, the habituel abortions were frequently observed in his wife. We concluded that this carrier family might be due to the unbalanced distribution (46,XY/46,XX, monosomy 4qteràq31.3, trisomy 13qà33qter or 46,XY/46,XX,der(13) trisomy 4qteràq31.3, monosomy 13qà33qter) of translocation during gamete formation and prenatal diagnosis recommended for their further pregnancies.
OBJECTIVES:
Simeprevir, daclatasvir, ledipasvir, paritaprevir and ritonavir are all substrates and inhibitors of the organic anion transporting polypeptide (OATP1B1 transporter, whereas sofosbuvir, ...ombitasvir and dasabuvir are not substrates. The purpose of this study is to evaluate the association of organic anion transporting polypeptide (OATP) gene polymorphism and hepatocellular carcinoma in Hepatitis C patients who achieved SVR by direct acting antivirals.
MATERIALS & METHODS:
Four single-nucleotide polymorphisms (SNPs) (388 A>G, 521 T>C, 334 T>G, and 699 G>A) within the OATP gene were genotyped by PCR-RFLP in 200 patients with chronic HCV infection (CHC) treated with DAAs, Laboratory work up and abdominal ultrasound was performed at baseline, at 12 weeks after end of treatment and then at every 6 months of follow up (FU).
RESULTS:
The overall SVR12 rate was 99.5%. The SVR12 rate was similar between the patients with HCC and those without HCC (100% vs 99.4%, p=0.49). HCC developed in 10 (5%) of the patients, approximately 11 (6-36 months) after the end of the treatment. No significant differences were found regarding OATP gene polymorphisms among the case groups (including CHC and HCC) and no matter in comparisons of alleles, genotypes, or haplotypes. Similar insignificant results were also observed when subgroup analyses were performed in different gender.
CONCLUSION:
Our observation suggests that SNPs 388 A>G, 521 T>C, 334 T>G, and 699 G>A of OATP gene might not contribute to the development of HCC in Hepatitis C patients who achieved SVR by direct acting antivirals.
Keywords:
Hepatitis C, hepatocellular carcinoma, organic anion transporting polypeptide
Anaplastic thyroid cancer is an aggressive malignancy with a poor prognosis. In metastatic cases instead of treatment alternatives including surgery, radiotherapy, and chemotherapeutic regimens, ...targeted treatments should be sought for.
Statins are 3-hidroxy-3 methylglutaryl-coenzyme A (HMG-CoA) reductase inhibitors, and inhibit conversion of HMG-CoA into mevalonate. Inhibition of mevalonate pathway Ras prenylation, can also inhibit tumoral growth. Rho/Rho kinase pathway has an important role in tumoral proliferation, and metastasis in which activity of ROCK increases leading to tumoral invasion. Herein we investigated antitumoral effectiveness of two HMG-CoA reductase inhibitor statins namely pravastatin, and atorvastatin, and Rho-kinase inhibitor Y-27632 in anaplastic thyroid cancer cell cultures through suppression of cellular proliferation. Various concentrations of pravastatin (20, and 60 μM), and atorvastatin (10, and 30 μM), Y-27632 (10, and 30 μM), and their combinations including pravastatin -Y-27632 (20 μM + 10 μM; 60 μM + 30 μM), atorvastatin - Y-27632 (10 μM + 10 μM, and 30 μM + 30 μM) solutions were prepared. Anaplastic thyroid cancer cell culture media were treated with these more water-soluble drug solutions of pravastatin which induced lower dose-, and time-dependent decreases in cellular indices relative to more lipid-soluble atorvastatin which also markedly suppressed cellular proliferation. Y-27632 also decreased cell indices in a dose-, and time-dependent manner. Combination of Y-27632 with pravastatin, and atorvastatin did not demonstrate additive, synergic or antagonistic interactions.
HMG-CoA reductase, and also Rho-kinase inhibitors are promising treatment alternatives of anaplastic thyroid cancers. Further in vivo, and clinical studies are needed on this issue.
The aim of this study was to investigate whether functional polymorphisms in the promoter of matrix metalloproteinase-1 (MMP-1), MMP-2 and MMP-9 genes were associated with susceptibility to knee ...osteoarthritis in the Turkish population. The MMP-1 −1,607 1G/2G (rs1799750), MMP-2 −1,306 C/T (rs243865), and MMP-9 −1,562 C/T (rs3918242) polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism assay in 157 patients diagnosed with knee osteoarthritis based on the criteria of American College of Rheumatology and in 84 controls in Mersin, Turkey. Genotype distributions and allele frequencies of MMP-1, MMP-2, and MMP-9 gene polymorphisms were compared between the patients and controls. There were significant differences between the groups regarding the genotype distribution of MMP-1 polymorphism (
P
= 0.001). The frequencies of 1G/1G and 1G/2G genotypes were significantly higher in the knee osteoarthritis than in the controls (
P
= 0.002, and
P
= 0.006, respectively). In addition, 1G allele frequency of MMP-1 gene was higher in the patients than in the control group (
P
= 0.0001). The genotype distributions and allele frequencies of MMP-2 and MMP-9 gene polymorphisms did not differ between the osteoarthritis and the control groups (
P
> 0.05). These findings suggest that the −1,607 1G/2G polymorphism in the MMP-1 gene may contribute to susceptibility to knee osteoarthritis in the Turkish population.
To examine whether polymorphisms of the interleukin 1 receptor antagonist (IL1RN), interleukin 1 alpha (IL1A) and interleukin 1 beta (IL1B) genes are markers of genetic susceptibility to knee ...osteoarthritis in Turkish patients.
One hundred and seven patients with knee osteoarthritis and 67 controls were studied. Three polymorphisms of IL1A, IL1B, and IL1RN genes were typed from genomic DNA. Allelic frequencies were compared between patients and control subjects.
No significant differences were observed in genotype and allele frequencies of the IL1RN VNTR, IL1A+4845, IL1B+3953 genes polymorphisms between patients and controls. Furthermore, we did not detect any association genotypes of the polymorphisms with the clinical, radiological, and laboratory profiles of patients.
The present study suggest that the IL1RN VNTR, IL1A+4845, IL1B+3953 genes polymorphisms are not genetic markers of susceptibility to knee osteoarthritis in Turkish patients, and are unrelated to the clinical, radiological, and laboratory characteristics of knee osteoarthritis.
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