Cytokine gene polymorphism frequencies in Turkish population living in Marmara region

Objectives Sequence variants in cytokine genes are related to affect cytokine gene levels. In this study, it was aimed to examine eight single nucleotide polymorphisms (SNPs) in five cytokine genes (TNF-alpha, INF-gamma, IL-6, IL10, TGF-beta) for the Turkish population living in Marmara region and to reveal the genetic distance between the study group and other populations. Methods In this study, three-hundred unrelated healthy individuals were involved and all genotyping were performed by using sequence-specific primers PCR (PCR-SSP) method. The SNP data were analyzed for Hardy Weinberg equilibrium fit by calculating expected genotype frequencies and comparing them to the observed values using Arlequin software version 3.1. The genetic distances between the study group and other populations were calculated and a neighbor-joining tree was constructed by PHYLIP. Results The observed genotypes of TNF-alpha (-308), IFN-gamma (+874), TGF-beta (codon 10), and TGF-beta (codon 25) of the subjects were found to be similar with other populations investigated in this study. However, there is a significant frequency difference for IL-6 and IL-10 genotypes between populations. Conclusions The current population study provided more reference values for these polymorphisms and generated a control group to be used in further association studies especially for transplantation, GVHD, autoimmune and malign disease

NIH-IV kronik prostatitin semptomatik benign prostat hiperplazili hastaların transüretral prostat rezeksiyonu sonrası erken dönem sonuçlarına etkisi

Aim: Transurethral prostate resection (TURP) is still considered the gold standard in the treatment of symptomatic benign prostate hyperplasia (BPH). Category IV chronic prostatitis (CP) is described by the National Institute of Health (NIH-IV) as the asymptomatic infl ammation of the prostate and it may be detected along with benign prostate hyperplasia (BPH) during histological examinations of the prostate. In this study, we evaluate the impact of the presence of NIH-IV defi ned prostatitis on early post-operative outcomes of transurethral resection of the prostate. Materials and methods: Between 2004 and 2008, medical records of 247 patients who underwent TURP in Adana Numune Training and Research hospital were examined, retrospectively. Patients who had a histological diagnosis of only BPH were considered in Group 1 whereas Group 2 consisted of patients with both NIH-IV CP and BPH simultaneously. Factors such as total prostate specifi c antigen (tPSA) levels, International Prostate Symptom Scores (IPSS), singlequestion quality of life (QoL) assessments, maximum fl ow rates (Q max), residual urine volumes, catheterization times, re-catheterization rates, and the duration of re-catheterization were compared between these 2 groups. IPSS, QoL, and urofl owmetry measurements were compared between the 2 groups again at the third post-operative month. Statistical analysis with Student’s t and chi-square tests was performed with SPSS ® version 16. Results: Preoperatively, no statistically signifi cant diff erence was present between the 2 groups with respect to IPSS, Q max, QoL, prostate volume, tPSA, and mean catheterization time (P > 0.05); however, re-catheterization rates were signifi cantly diff erent (P < 0.05). While meaningful diff erence was found between 90th day IPSS and QoL medians (P < 0.05), there was no diff erence in Q max medians (P > 0.05). Conclusion: NIH-IV chronic prostatitis shows negative eff ects on the subjective post-operative results and recatheterization frequency of BPH patients that have undergone TURP.Amaç: Transüretral prostat rezeksiyonu (TURP) semptomatik benign prostat hiperplazisi (BPH) cerrahi tedavisinde halen altın standarttır. Kronik prostatit (KP) National Institute of Health -IV (NIH-IV) prostatın asemptomatik infl amasyonu olup histolojik örneklerde BPH ile sıkça birlikte bulunmaktadır. Bu çalışmada KP NIH-IV’ün semptomatik BPH nedeniyle yapılan TURP’ ların post operatif erken sonuçlarına etkisini incelenmesi amaçlanmıştırYöntem ve gereç: Adana Numune Eğitim ve Araştırma Hastanesinde 2004-2008 yılları arasında TURP yapılan 247 hastanın tıbbi kayıtları retrospektif olarak incelendi. Histopatolojiye göre saf BPH olanlar 1. grubu oluştururken KP ve BPH olanlar 2. grubu oluşturdular. Total prostat spesifi k antijen seviyesi (tPSA), Uluslararası Prostat Semptom Skoru (IPSS), tek soruluk yaşam kalitesi (QoL), maksimum akım hızı (Q max), sondalı kalma süresi, ve erken tekrar sondalama oranları ve süreleri ile birlikte post-op 90. gündeki IPSS, QoL, Qmax değerleri karşılaştırıldı. istatistiksel analiz Student t ve ki kare testleri ile SPSS® version 16 ile yapıldı. Bulgular: Preoperatif IPSS, Qmax, QoL, prostat hacimleri, tPSA ve sondalı kalma süreleri ortancaları grup 1 ve 2 arasında anlamlı farklılık göstermedi (P > 0,05). Tekrar sondalama oranları arasında anlamlı farklılık vardı (P 0,05). Sonuç: KP NIH-IV semptomatik BPH nedeniyle TURP yapılan hastaların subjektif post-op sonuçları ve tekrar sondalama sıklıkları üzerinde olumsuz etki göstermektedir

HLA DRB1 alleles, IFN-gamma and TGF-beta Gene Variants in childhood ALL patients

Objectives Graft-versus-host disease (GvHD) is a complex clinical syndrome with organ dysfunction as a consequence of a severe immunological reaction mediated by mainly T cells after hematopoietic stem cell transplantation. Our aim is to evaluate the association of HLA-DRB1 alleles, IFN-gamma and TGF-beta gene variations, with childhood ALL (c-ALL) patients and with GvHD after transplantation. Methods This study included 30 high-risk c-ALL patients and 100 controls. HLA-DRB1 alleles were studied by the NGS method, and TGF-beta and IFN-gamma variations were studied by the PCR-RFLP method. Results The rates of HLA-DRB1*15 alleles and IFN-gamma CC genotype were significantly higher in c-ALL patients (p=0.004, p=0.036 respectively). Association of the HLA-DRB1*15 alleles with the TGF-beta TC genotype was found with a higher rate in the patient group (p=0.031). Association of the DRB1*04 allele with the IFN-gamma CC genotype was found with a higher rate in the patient group (p=0.028). Acute GvHD developed in eight of 19 patients who underwent transplantation. IFN-gamma CT was found to have a protective role in occurrence of aGvHD (p=0.044). Association of the DRB1*15 allele with IFN-gamma TT was found with a higher rate in a GvHD (p=0.050). Conclusions It is thought that polymorphism of HLA-DR15 and IFN-gamma CC may contribute to the development of c-ALL, while IFN-gamma CT might be protective for aGvHD.Istanbul Universit

GENETIC POLYMORPHISMS IN 15 STR LOCI IN THE TURKISH POPULATION LIVING IN ISTANBUL PROVINCE

Objective: Short tandem repeats (STRs) are short sequences of nucleotides that are repeated and distributed all over the genome. These polymorphisms enable investigation of the forensic, ancestral lineage and evolutionary studies in human population. Owing to the historical migration and ethnic groups, it is very valuable to evaluate genetic distances in Turkey. The aim of the present study is to examine the STR data of Istanbul and compare the genetic distances and allele frequency with the previously published data of 27 countries from Europe, Asia, America, Africa and Middle East. Material and Method: Peripheral blood samples were obtained from 400 healthy individuals. DNA samples were amplified using a commercial kit. Multiplex STRPCR (Applied Biosystems, Foster City, CA, USA) was used and the amplicons were evaluated on an ABI 3130 Genetic Analyzer. Results: Among all loci, D21S11 and D18S51 were the most polymorphic loci. The power of discrimination (PD) ranged from 0.8329 (TPOX) to 0.9722 (D18S51). The combined PD and probability of exclusion (PE) were found to be >0.99999999 and 0.99999671, respectively. Conclusion: In this study, six STR markers were selected to compare the genetic distances and allele frequency of the present results with the results of twenty-seven studies which were published previously. This study indicates that the population in Turkey is an intermediate between Europe, Middle East and Central Asia. Keywords: Human genetics, polymorphism, population genetics, short tandem repeat