Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.

OBJECTIVE: The aim of this study was to determine frequency and associations between APOA5 c.56C>G, -1131T>C, c.553G>T, and APOC3 -482C>T and SstI gene polymorphisms with hypertriglyceridemia. METHODS: Under a case-control study model, 135 hypertriglyceridemic and 178 normotriglyceridemic control participants were recruited. Polymerase chain reaction and restriction fragment length polymorphism methods were utilized for genotyping. Statistical calculations were performed by comparing allele and genotype frequencies between groups. Clinical characteristics were compared between groups and intra-group genotypes. RESULTS: APOC3 gene -482C>T and SstI polymorphic genotypes and allele frequencies were significantly higher in hypertriglyceridemic group (genotype frequencies, p=0.035, p=0.028, respectively). Regression analysis under unadjusted model confirmed that APOC3 -482C>T and SstI polymorphisms were significantly contributing to have hypertriglyceridemia (p=0.02, odds ratio [OR]=1.831 (95% confidence interval [CI] 1.095-3.060); p=0.04, OR=1.812 (1.031-3.183), respectively). APOA5 c.56C>G was in complete linkage disequilibrium with APOA5 c.553G>T polymorphism (D'=1). CONCLUSION: For the first time in a population sample from Turkey, among the five polymorphisms of APOA5 and APOC3 genes investigated, APOC3 -482C>T and SstI polymorphisms were associated with elevated serum TG levels, while APOA5 c.56C>G, -1131T>C, and c.553G>T polymorphisms were not.

Evaluating the Technical Efficiency of Hospitals Providing Tertiary Health Care in Turkey: An Application Based on Data Envelopment Analysis.

Tertiary care hospitals use more resources compared to other hospitals, which makes technical efficiency measurements specific to these hospitals important. This study explored the factors affecting the efficiencies of training and research hospitals affiliated to the Ministry of Health (n = 41) and university hospitals (n = 51) in Turkey via Data Envelopment Analysis, Malmquist Total Factor Productivity Index and panel Tobit Regression. The results showed that hospital size and the status of being a training and research or a university hospital affected the technical efficiency (p < 0.05). The size and the status of the hospitals should be taken into consideration while allocating the resources.

Is there any relationship between human foamy virus infections and familial Mediterranean fever?

BACKGROUND: Familial Mediterranean fever (FMF) is generally defined as an autosomal recessive disease, characterized by the automatic activation of the innate immune system in the absence of a detectable pathogenic stimulant. We hypothesize that the pathogenic factors, besides the genetic causes, may affect the development of FMF symptoms. To test this hypothesis, we examined the effects of human foamy virus (HFV) positivity on the occurrence of the clinical symptoms of FMF. MATERIALS AND METHODS: Two hundred and twenty-two FMF patients with definitive diagnosis according to Tel Hashomer criteria (study group 1 [SG1]), 205 symptomatic FMF patients who had definitive diagnosis according to the same criteria but did not carry any of the 12 most commonly occurring MEFV gene mutations (study group 2 [SG2]), and 200 healthy individuals were included as control group (study group 3 [SG3]) in the study. The genetic analysis was applied in the Molecular Genetics Laboratory of the Department of Medical Biology, Faculty of Medicine, Ondokuz Mayis University. This study was designed as a case-control study. HFV positivity was tested by amplifying the HFV bel1 gene sequence with polymerase chain reaction technique. Statistical analyses were conducted using SPSS version 23.0 software. RESULTS: HFV positivity showed significant differences between the study groups (P = 0.002). While 43 (19.02%) of the 222 SG1 patients were positive for the HFV bel1 gene sequence, 33 (16.09%) of the 205 SG2 patients were positive for the same sequence. Only 15 (7.5%) of the SG3 participants were positive for the presence of HFV bel1 gene sequence. CONCLUSION: The results of our study suggested that HFV positivity can be a stimulant pathogenic factor of natural immune system which can cause the emergence of FMF symptoms.

Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.

PURPOSE: Retinitis pigmentosa (RP) is the most common inherited retinal disease with high genetic heterogeneity and variable phenotypes. Characteristic symptoms include night blindness and progressive loss of visual field, leading to blindness. Mutations in >60 genes have been identified to date as causative for RP, and additional candidate genes are assumed. METHODS: To find the disease-causing mutations in the affected members of five Turkish families, we sequenced whole exomes using an Illumina platform. RESULTS: Among all candidate genes for retinal degeneration we found two previously known sequence variations: a 4 bp deletion in the RPGR gene (c.1662_1665delAGAA; p.Glu555Glyfs*14) and a recently described USH1-causing missense mutation in MYO7A (c.472G>A, p.Gly158Arg). Furthermore, a novel 1 bp deletion in the VCAN gene (c.5118delA; p.Ser1707Valfs*44) was detected as well as a large deletion in EYS, spanning ∼ 400kb and comprising exons 16-26 (p.fs*). In one family, exome analyses of two affected individuals revealed a homozygous missense mutation (c.883G>A; p.Asp295Asn) in the AGBL5 (Agbl5; CCP5) gene, previously not reported to be associated with RP. RNA and protein analyses showed expression in human retina, as well as in mouse retina, brain and testis. Furthermore, cDNA analyses indicate the existence of tissue-specific AGBL5 splice variations in humans. AGBL5/CCP5 immunoreactivity was also visualized in human and mouse retinae. CONCLUSION: Due to the characteristic RP phenotype in patients carrying the AGBL5 missense mutation we suggest this gene as a candidate for a new form of autosomal recessively inherited RP and recommend further investigation to confirm this hypothesis.

The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients.

OBJECTIVE: Central nervous system (CNS) involvement in patients with familial Mediterranean fever (FMF) is considerably rare. Patients with FMF may exhibit clinical and radiologic symptoms similar to multiple sclerosis (MS). However, the impact of the Familial Mediterranean Fever Gene (MEFV) mutations on the clinical course of MS is not fully understood as yet. METHODS: In our study, we investigated the presence of probable MEFV mutations in patients diagnosed with definite MS and the association of these mutations with the clinical course, radiologic characteristics and disability status of the individuals. A total of 105 patients diagnosed with definite MS according to the McDonald criteria and a control group of 112 non-symptomatic individuals were included in the study. RESULTS: Thirty-seven patients (35.2%) had MEFV gene mutations; three were compound heterozygotes (M694V/E148Q; M694V/V726A; P369S/E148Q) and one was homozygous for P369S. No statistically significant differences were found among patients with MS and healthy individuals with respect to existing mutations. In addition, we did not observe a statistically significant relationship between MEFV mutations and the gender of the patients, oligoclonal band (OCB) positivity, Expanded Disability Status Scale (EDSS), disease onset age, clinical presentation, affected neurologic systems, existence of spinal lesions, response to immunomodulatory treatment, time to reach EDSS scores of 3 and 6, the number of attacks and the average number of lesions on a brain MRI. CONCLUSION: Our results indicate that MEFV gene mutations do not affect the neurologic prognosis in patients with MS. However, additional research studies involving more patients with MS and clinical forms are warranted to confirm our results.

The relationship between the presence of ADHD and certain candidate gene polymorphisms in a Turkish sample.

Due to the high heritability of attention-deficit hyperactivity disorder (ADHD), parents of children with ADHD appear to represent a good sample group for investigating the genetics of the disorder. The aim of this study was to investigate the association between ADHD and six polymorphisms in five candidate genes [5-HT2A (rs6311), NET1 (rs2242447), COMT (rs4818), NTF3 (rs6332), SNAP-25 (rs3746544) and (rs1051312)]. We included 228 parents of children diagnosed with ADHD and 109 healthy parents as the control group. The polymorphisms were genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) assays and analyzed using the chi-square test and the multinomial logit model. SNAP-25 (rs3746544) polymorphism was associated with loading for ADHD, while 5-HT2A (rs6311) and NET1 (rs2242447) polymorphisms were associated with ADHD. On the other hand, there was no significant association between the SNAP-25 (rs1051312), NTF3 (rs6332), or COMT (rs4818) gene polymorphisms and ADHD. In addition, we found that even if variation in the SNAP-25 gene alone does not affect the phenotype, it may nevertheless lead to the emergence of a clinical ADHD picture in the presence of other genetic factors. Our findings suggest that a combination of NET1 (rs2242447) and SNAP-25 (rs3746544) is a risk factor for ADHD. Problems associated with the noradrenergic and serotonergic systems and SNAP-25 may play a role, both alone and in interaction with one another, in the pathophysiological mechanisms of ADHD.

ErbB receptor tyrosine kinase family expression levels in urothelial bladder carcinoma.

ErbB receptor tyrosine kinases family plays an important role in cell cycle regulation. Overexpression of ErbB receptors has been described in several solid tumors. The aim of this study was to investigate the levels of ErbB1, ErbB2, ErbB3, and ErbB4 expression in bladder cancer. Urinary bladder tumor samples were obtained from 33 bladder cancers and 7 non-cancerous bladder biopsies. The levels of ErbB1, ErbB2, ErbB3, and ErbB4 genes expression in bladder cancer were determined by real-time PCR. The presence of protein was confirmed by immunostaining. Expression of ErbB1, ErbB2, ErbB3, and ErbB4 genes increased 0.67, 4.72, 2.89, and 2.65-fold, respectively, in bladder tumors as compared with normal tissue. There was a significant difference between immunostaining results of ErbB4 protein in bladder tumors and normal bladder tissue (P<0.01). The present data suggest that ErbB2, ErbB3, and ErbB4 genes may have a role in bladder cancer tumorigenesis.

Two males with SRY-positive 46,XX testicular disorder of sex development.

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

SOX4 expression levels in urothelial bladder carcinoma.

High levels of SOX4 gene expression have been reported in a variety of human cancers. The protein may function in the apoptosis pathway, leading to cell death as well as to tumorigenesis. The aim of this study was to investigate the levels of SOX4 expression in bladder cancer. Urinary bladder tumor samples were obtained from 57 bladder cancer and 13 normal bladder biopsies. The levels of SOX4 expression in bladder cancer were determined by immunohistochemistry and real-time PCR. SOX4 gene expression was increased 2.2 times in bladder tumors as compared with normal tissue. The presence of protein was confirmed by immunostaining. There were significant differences between immunostaining of bladder tumors and normal bladder tissue (P=0.001). The present data suggest that SOX4 gene may have a role in bladder cancer tumorigenesis.

Interaction between periodontal disease and systemic secondary amyloidosis: from inflammation to amyloidosis.

BACKGROUND: It has become increasingly clear in recent years that periodontal disease can cause a dramatic increase in the levels of markers of systemic inflammation, and that periodontal treatment can result in reduction in the levels of these markers. We have previously shown that the prevalence of moderate to severe periodontitis was significantly higher in patients with familial Mediterranean fever (FMF) with amyloidosis than in patients with FMF without amyloidosis. Thus, the aim of this study is to investigate if chronic periodontitis is associated with secondary amyloidosis in the Black Sea region of Turkey. METHODS: A total of 112 patients with biopsy-proven secondary amyloidosis (59 patients with FMF, 40 patients who were either chronically infected or had malignant disease, 13 patients with periodontitis) and 22 healthy subjects, were included in this study. Periodontal health and disease were evaluated using gingival index (GI), papillary bleeding index (PBI), plaque index (PI), and periodontal disease index (PDI). The concentrations of serum acute phase reactants (APRs) were measured at baseline and at 4 to 6 weeks after completion of the non-surgical periodontal therapy. RESULTS: The prevalence of moderate to severe periodontitis was 47.5% in patients with FMF, 72.5% in patients who were either chronically infected or had malignant disease, and 84.6% in patients with periodontitis. Serum levels of APRs in patients with amyloidosis were reduced significantly after non-surgical periodontal therapy (P <0.01). CONCLUSIONS: Periodontitis can increase the levels of APRs and potentiate the development of amyloidosis either by themselves or association with traditional factors, such as FMF and other chronic inflammatory diseases. Thus, preventing or treating periodontitis might prevent or at least alleviate the progression of amyloidosis. Periodontal evaluation should be performed as part of a medical assessment and considered as an etiologic factor for secondary amyloidosis.

P53 codon 72 and HER2 codon 655 polymorphisms in Turkish breast cancer patients.

The polymorphisms in codon 72 of the tumor suppressor protein p53 (P53) gene and codon 655 of the human epidermal growth factor receptor 2 (HER2) gene have been suggested to play roles in most cancers. The purpose of this study was to investigate the association between common variants of HER-2 and P53 genes with breast cancer risk. Blood samples collected from 204 women with primary breast carcinoma and 192 healthy female controls were analyzed through polymerase chain reaction-restriction fragment length polymorphism methods. The frequencies of Arg/Arg, Arg/Pro, and Pro/Pro genotypes for P53 codon 72 were 51.7%, 41.4%, and 6.9% in patients and 42.6%, 47.3%, and 10.1% in controls, respectively. The frequencies of Ile/Ile, Ile/Val, and Val/Val genotypes for HER2 codon 655 were 75.0%, 22.5%, and 2.5% in patients and 73.4%, 25.0%, and 1.6% in controls, respectively. The genotype and allele frequencies between patient and control groups for P53 gene polymorphism were not significantly different (p = 0.177 and p = 0.07, respectively). Similarly, the genotype and allele frequencies between patient and control groups for HER2 gene polymorphism were not significantly different (p = 0.716 and p = 0.891, respectively). With the exception of association between the P53 codon 72 polymorphism and tumor stages (p = 0.026), there was no significant association between the studied polymorphisms and clinicopathological characteristics. The P53 gene codon 72 Arg/Pro and Her2 gene Ile655Val polymorphisms were not associated with the risk of breast cancer in Turkish women. However, significant associations between the P53 codon 72 and the homozygote and heterozygote Pro genotypes with tumor stages were found.

Evaluation of pathergy test positivity in familial Mediterranean fever patients and comparison of clinical manifestations of FMF with Behçet's disease.

Familial Mediterranean fever (FMF) shares a number of features with Behçet's disease (BD), such as their common ethnic origin, etiopathogenetic mechanisms, symptoms, and treatment. Pathergy reaction is accepted as a major criterion in BD. We aimed to determine the frequency of pathergy positivity in FMF patients and compared clinical features between FMF and BD. Pathergy test was performed in patients with FMF, BD, and healthy controls. Diagnostic criteria for FMF and BD were screened in both groups. None of the FMF patients or healthy controls yielded positive pathergy test. Pathergy test was positive in 13 out of 31 (41.9%) of the patients with BD. None of the FMF patients fulfilled the International Study Group criteria for BD. None of the BD patients fulfilled the Livneh diagnostic criteria for FMF. BD and FMF are associated with neutrophilic dermatoses and neutrophil hyper-reactivity. Although pathergy test and erysipelas-like erythema share some histological findings, pathergy test was negative among FMF patients.

Clinical significance of MEFV mutations in ankylosing spondylitis.

OBJECTIVE: The aim of the present study was to investigate the prevalence of MEFV gene mutations in patients with ankylosing spondylitis (AS) and to assess the clinical significance of the MEFV gene mutations in AS. METHODS: Eighty AS patients and 85 healthy controls were examined for 12 common MEFV mutations via strip-assay technique. Bath ankylosing spondylitis disease activity index (BASDAI), bath ankylosing spondylitis functional index (BASFI), visual analogue scale (VAS) for pain, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), Schober test, chest expansion measurements, hip involvement, ocular involvement, articular pain, and presence of syndesmophytes were used to assess the disease severity in patients. RESULTS: Twenty-four of the AS patients (30%) and 17 of the healthy controls (20%) were found to carry a single MEFV mutation. There was no significant difference between the AS patients and controls in terms of MEFV gene mutation frequency (p = 0.13, OR: 1.71, 95% CI: 0.83-3.50). When the patients were divided into two groups as MEFV mutation carriers and noncarriers, there was significant difference between the groups regarding BASFI and BASDAI whereas there was no significant difference in VAS score for pain. No association was found with the clinical findings and MEFV mutation except hip involvement. While there was no significant difference in CRP levels, individuals with MEFV mutation had a higher ESR than the noncarriers. CONCLUSION: MEFV gene mutation carriage rate was not found to be significantly higher in AS patients when compared with healthy controls. However having an MEFV mutation seems to aggravate the disease course in AS.

Association of transforming growth factor beta1 gene polymorphism with rheumatoid arthritis in a Turkish population.

OBJECTIVE: Cytokine genes play important roles in the pathogenesis of rheumatoid arthritis (RA). In RA, the plasma and synovial fluid levels of transforming growth factor beta1 (TGFbeta1) have been shown to be raised. The aim of this study was to investigate the relationship between the TGFbeta1 T869C polymorphism and RA in a Turkish population. METHODS: One hundred and thirty-one patients with a clinical diagnosis of RA and 133 healthy controls were enrolled in this study. Analyses of TGFbeta1 T869C gene were made by the polymerase chain reaction-restriction fragment length polymorphism technique. RESULTS: There was no significant difference in genotypic frequency of TGFbeta1 T869C polymorphism between the patients with RA (TT:TC:CC=42.7%:41.2%:16%) and controls (TT:TC:CC=36.1%:48.1%:15.8%) (p=0.48). The age at first occurrence of clinical symptoms of RA did not differ significantly in relation to TGFbeta1 T869C genotypes (p=0.07). Furthermore, there was no significant association between TGFbeta1 T869C genotypes and the presence or absence of radiographic erosions in the patient group (p=0.67). But presence of T allele was associated with 1.92-fold increased risk for RF positivity (p=0.02, OR=1.92, 95% CI=1.08-3.40). CONCLUSION: The allele frequencies for TGFbeta1 T869C polymorphism in RA patients were similar to those in the control group. However, the T allele carriers had 1.92-fold increased risk for RF positivity. Further studies on larger numbers of cases and on the other polymorphic regions of this gene are needed before definite conclusions can be drawn about the role of TGFbeta1 in the etiology of RA.

Diffuse multicystic encephalomalacia in a preterm baby due to homozygous methylenetetrahydrofolate reductase 677 C-->T mutation.

Methylenetetrahydrofolate reductase catalyzes the formation of 5-methyltetrahydrofolate from 5,10-methylentetrahydrofolate and produces folate for the methylation of homocysteine to methionine. Due to insufficient conversion of homocysteine to methionine, plasma homocysteine levels increase in methylenetetrahydrofolate reductase deficiency. Homocysteine is an amino acid that contains a neurotoxic sulfur molecule and can induce neuronal apoptosis. Methylenetetrahydrofolate reductase deficiency is 1 of the etiological factors that causes neurological symptoms and signs in the newborn and childhood period. Here, we report a premature baby with prenatal onset diffuse multicystic encephalomalacia and cerebellar atrophy due to homozygous methylenetetrahydrofolate reductase mutation.

Analysis of vitamin D receptor gene polymorphisms in patients with chronic periodontitis.

BACKGROUND & OBJECTIVE: Genetic polymorphisms in the vitamin D receptor (VDR) gene are related to bone mineral density, bone turnover, and diseases with bone loss. Alveolar bone loss is a key feature in periodontitis. The aim of this study was to determine whether severe generalized chronic periodontitis (CP) in a Turkish population was associated with polymorphisms in the VDR gene. METHODS: Samples of venous blood and DNA were obtained from 72 patients with severe generalized chronic periodontitis and 102 healthy controls. The polymorphic regions were amplified using PCR followed by digestion with restriction enzymes BsmI A/G(rs1544410), ApaI G/T(rs11168271), TaqI T/C(rs731236), and analyzed electrophoretically. Genotype and allele frequencies were calculated. RESULTS: There were no statistically significant differences in the frequencies of VDR BsmI, ApaI, TaqI genotypes between the CP patients and healthy controls. The GTT haplotype, constructed from the three adjacent restriction fragment length polymorphisms was found to be over-represented among CP cases. This corresponded an OR of 2.4 (95% confidence interval, 1.12-5.18) for heterozygous carriers and 2.27 (95% confidence interval, 0.95-5.4) for homozygous carrier of the risk haplotype. INTERPRETATION & CONCLUSION: The present findings indicated that BsmI, ApaI, TaqI polymorphisms of the VDR gene were not associated with the severe generalized CP in the studied Turkish patients. Moreover, the VDR genotypes based on haplotype analysis may be associated with chronic periodontitis. In the future, diagnostic periodontal risk assessments like polymorphisms may be useful in detection of individuals susceptible for periodontitis.

Polymorphisms of the serotonin-2A receptor and catechol-O-methyltransferase genes: a study on fibromyalgia susceptibility.

Genetic and environmental factors are thought to play roles in the etiopathology of fibromyalgia syndrome (FMS). The objective of this study was to determine the potential effects of single nucleotide polymorphisms (SNPs) in catechol-O-methyltransferase (COMT) (rs4680) and 5-hydroxytryptamine (serotonin) 2A (5-HT2A) receptor (rs6313 and rs6311) genes on susceptibility to FMS. One hundred seventy-one women (80 FMS, 91 control) were enrolled in the study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for the genotyping analyses. Genotype and allele frequencies were calculated by the chi-square test. Beck depression inventory, state and trait anxiety inventory and symptom checklist-90 revised (SCL-90-R) tests were applied to both patients and controls. There were no observed differences in the frequencies of alleles and genotypes between patients and controls for the COMT, and the two 5-HT2A receptor gene polymorphisms (P>0.05). Our results suggest that the investigated polymorphisms seem not to be the susceptibility factors in etiology of FMS.

MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience [corrected].

OBJECTIVE: To investigate MEFV mutations among patients with familial Mediterranean fever (FMF), their relatives, and healthy controls in the Black Sea region of Turkey; to compare 3 different MEFV mutation analysis methods; to evaluate the role of MEFV mutations in the diagnosis of FMF; and to investigate the role of M694V in the development of amyloidosis. METHODS: In total, 890 subjects (625 patients, 165 relatives, 100 healthy controls) were included in this prospective study. MEFV mutations were studied with the amplification refractory mutation system (ARMS; n = 335), polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP; n = 335), and reverse hybridization assay (FMF StripAssay; n = 693). RESULTS: All methods were used in 79 patients. The ratio of false negativity was about 2% using ARMS compared to PCR-RFLP. The FMF StripAssay was used to investigate 9 more mutations and detected 17 mutations in 14 patients. The M694V/M694V genotype was more common in patients with amyloidosis (37%) compared to patients without amyloidosis (18%) (p = 0.009). The frequency of MEFV carriers was 27%. The frequency of individuals having 2 mutations among asymptomatic relatives of FMF patients was 6%. CONCLUSION: The FMF StripAssay is a reliable and time-saving method. In spite of detection of new mutations and developments in MEFV assay technology, there were patients in whom no mutation was detected. Our data, combined with previous studies, show that patients having M694V/M694V carry a risk for amyloidosis.

Prostate-specific antigen and 17-hydroxylase polymorphic genotypes in patients with prostate cancer and benign prostatic hyperplasia.

We investigated the association of prostate cancer (PCa) and benign prostatic hyperplasia (BPH) with genetic polymorphisms in prostate-specific antigen (PSA) (-158 G/A) and 17-hydroxylase (CYP17) (-34 T/C) genes in a Turkish population. In this study, we investigated the distribution of these polymorphisms in 148 PCa patients, 136 BPH patients, and 102 healthy individuals as controls. The polymorphisms were analyzed using polymerase chain reaction-restriction fragment length polymorphism assay. Genotype and allele frequencies were calculated, and their associations with PCa or BPH risk are assayed. The frequency of PSA gene GA and GG genotypes was significantly higher in PCa patients than in controls (p = 0.017 and p = 0.019, respectively). GG genotype was also associated with BPH (p = 0.033). In a case analysis, according to Gleason score, the association of PSA gene GG genotype with Gleason score >7 was near to statistical significance (odds ratio, 2.94; 95% confidence interval, 0.95-9.28). There was also an association between CYP17 polymorphism and BPH (p = 0.004). No association was observed between PCa and CYP17 gene polymorphism. These data demonstrate that PSA gene promoter variation may play a significant role in the development of PCa and BPH, and that CYP17 gene polymorphism may be associated with BPH in the Turkish population studied.

Association of the polymorphisms in promoter and intron regions of the interleukin-4 gene with chronic periodontitis in a Turkish population.

OBJECTIVES: The etiology of periodontitis is related to the interaction between micro-organisms and host responses. Host modifying factors, such as genetic predisposition, may increase the severity of periodontitis. Recent works have shown that the levels of cytokine expression are regulated by genetic polymorphisms, and that these variations can interfere with progression of the disease. This study therefore aimed to evaluate whether interleukin (IL) 4 gene polymorphisms are associated with severe generalized chronic periodontitis. MATERIAL AND METHODS: Seventy-five severe generalized chronic periodontitis patients and 73 healthy subjects were examined. Blood samples were taken and genomic DNA was amplified by polymerase chain reaction (PCR). Identification of 70 base-pair repeat polymorphisms in intron 2 and C-->T polymorphisms at -590 position of the promoter region was performed through PCR-restriction fragment length polymorphism (RFLP). RESULTS: No significant differences were found in the allele and genotype frequencies between the control and periodontitis group. CONCLUSION: The IL-4 polymorphisms were not related to severe generalized chronic periodontitis in a Turkish population.