Beta 2 glycoprotein I Valine247Leucine polymorphism in patients with antiphospholipid syndrome

Aim: Beta 2 Glycoprotein I (β2-GP I) takes part in the pathogenesis of antiphospholipid syndrome (APS). Valine247Leucine (Val247Leu) gene polymorphism of β2-GP I might affect the binding/production of anti-β2-GP I antibodies. Multiple studies are showing different frequencies of this polymorphism in various ethnic backgrounds; we aimed to determine the frequency and clinical importance of Val247Leu gene polymorphism of β2-GP I in patients with APS and healthy. Methods: Eighty-three patients with APS [68 primary APS, 15 APS with systemic lupus erythematosus (SLE)] and 63 healthy individuals were included. Β2-GP I Val247Leu polymorphism was determined by quantitative real time polymerase chain reaction and melting curve analysis. The presence of anti-β2-GP I antibodies was detected by ELISA in the patient group. Results: Allele and genotype frequencies were similar between patients and healthy controls (p=0,307). V allele and VV genotype frequencies were significantly higher in primary APS patients with thrombocytopenia (p=0.040). There was no significant difference between β2-GP I Val247Leu gene polymorphism and the anti-β2-GP IgM and IgG antibody levels in the patient group (p=0.631 and p=0.077, respectively) Conclusion: This is the first study investigating the β2-GP I Val247Leu gene polymorphism in the Turkish population. The frequencies of Val247Leu gene polymorphism of β2-GP I were not different between patients with APS and healthy individuals in line with the other studies in Caucasian populations. Significantly high levels of V allele and VV genotype frequencies in primary APS patients could offer further insight to into the pathogenesis of thrombocytopenia in APS

Overexpression of Fc mu receptor (FCMR, TOSO) gene in chronic lymphocytic leukemia patients

WOS: 000303539000103PubMed ID: 21264533Rai and Binet staging systems that have been used as a standard method for evaluating the prognosis of chronic lymphocytic leukemia (CLL) have some restrictions in distinguishing the early stage CLL patients that will progress rapidly. To solve this shortcoming, prognostic parameters other than staging have become important in the recent years. Intracellular upregulation of Fc mu receptor (FCMR, FAIM3/TOSO) gene in the leukemic lymphocytes of the patients with CLL may be an important parameter in predicting the progression of the disease. In this study, FCMR mRNA expression levels were evaluated in 50 CLL patients and in 50 healthy controls. FCMR mRNA expression was found to be significantly higher in CLL patients than in healthy controls. We, then, evaluated FCMR mRNA levels according to the stages of CLL. Rai stage 0, I, II cases were compared with stage III and IV, and Binet A was compared with Binet B and C according to FCMR mRNA levels. In cases with higher risks, Rai stage III, IV and Binet stage B and C, FCMR mRNA levels were also significantly higher. In addition, overexpression of the FCMR seems to be promoting the chromosomal abnormalities. As a result, we found that the mRNA levels of FCMR in the CLL patients are 23-fold higher than that of the control group and this may suggest that it can be associated with the disease progression and survival. For this reason and because of the simplicity of analyzing with Q-PCR, it can be a useful clinical parameter, after its importance has been shown in larger and multi-variate studies

β globin mutations in Turkish, Northern Iraqi and Albanian patients with β thalassemia major

The mutation detection of β thalassemia is absolutely necessary for molecular diagnosis, as well as any genetic epidemiological study. The β globin gene has 3 exons and 2 introns, involved in β-thalassemic pathogenesis. The study aim of the study is to characterize the spectrum of β globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β thalassemia major patients. After genomic DNA extraction from venous blood and amplification of the target DNA regions with PCR, genotyping was achieved by Sanger based DNA sequencing. The IVSI-110 G>A mutation was the most frequent allele in the Turkish and Albanian patients. In Northern Iraqi patients IVSI-1 G>A was is the most frequent. There are two mutations are firstly reported for Albania [c.*111 A>G 3’ UTR (rs63751128) and c.113 G>A (p.Trp38Ter, p.W38*) (rs35887507)] with this study. These findings may be of value for genetic counseling, premarital diagnosis, prenatal diagnosis and prevention programs

Prevalence of human papilloma virus types in Turkish and Albanian women

Background: Human papilloma virus (HPV) infection is the major etiologic agent of cervical carcinoma. The aim of this study was to determine the prevalence of HPV infection and genotype distribution in cervical swabs from 2,234 Turkish and 357 Albanian women with similar lifestyles from two different countries. Materials and Methods: HPV detection and typing were performed by type specific multiplex fluorescent PCR and fragments were directly genotyped by high resolution fluorescence capillary electrophoresis. Results: The most common type was HPV 16 and the second one was HPV 6 for both country. The third common type was 39 and 18 for Turkish and Albanian women, respectively. Conclusions: When we compare our results with other studies, there are differences between the frequency and order of the HPV genotypes detected at the second and subsequent frequencies. This may due to differences in the quality and type of samples analyzed, as well as the HPV detection methods

Heterozygous factor H mutation presented as diarrhea-associated hemolytic uremic syndrome

WOS: 000307274100175

Eculizumab therapy for aHUS associated with heterozygous factor I mutation

WOS: 000307274100179

Factor XIII Val34Leu polymorphism does not contribute to the prevention of thrombotic complications in patients with antiphospholipid syndrome

The effect of thrombophilic mutations in the development of thrombosis in patients with antiphospholipid syndrome (APS) has been extensively investigated. Factor XIII (FXIII) Val34Leu polymorphism is a newly described polymorphism which is located in the three amino acids away from the thrombin activation site of the FXIII-A subunit. It has been reported that the Leu allele decreases the risk of both arterial and venous thrombosis. In the present study, we examined the association between the FXIII Val34Leu polymorphism and the development of thrombosis in patients with A-PS. Sixty A-PS patients with arterial and venous thrombosis, 22 antiphospholipid antibody (aPLA) positive patients with first trimester abortus and/or thrombocytopenia, 126 healthy controls, and 60 healthy subjects who were age- and sex-matched with thrombotic APS group were included into the study. FXIII Leu allele frequencies in the APS patients with thrombosis, aPLA-positive patients without thrombosis, healthy controls, and matched controls were 13.3, 16, 19.5, and 18.3%, respectively. When we compared Leu allele frequencies between APS patients with thrombosis and aPLA-positive patients without thrombosis, healthy controls or matched controls, we could not find any difference (chi(2), P = 0.43, and P = 0.09, P = 0.67, respectively). Our results showed that the FXIII Leu allele has no protective effect in the development of thrombosis in APS