Study In Turkish Population Research Articles

Three polymorphisms and susceptibility to breast cancer development: a Turkish study population (58.1)

Objective: Genetic variations like polymorphisms underlie differences in our susceptibility to diseases. According to our literature reviews we have found three polymorphisms which contribute to breast cancer development from different pathways. However genetic variations of polymorphism vary between populations according to gene pools, life style and gene‐environment interactions. Based on these findings we aimed to investigate the association between p53 gene codon 72 polymorphism, MTHFR gene C677T polymorphism and PAI‐1 gene 4G/5G polymorphism and breast cancer in a Turkish study population.Material and Methods: Genomic DNA was extracted from 100 women (52 with breast cancer and 48 controls) in the study. PCR technique was used to amplify extracted DNA with proper primers for each polymorphism. For identifying genotypes PCR products were assessed with UV transilluminator by being exposed to agarose gel electrophoresis.Results: According to genotype distributions and allele frequencies of three polymorphisms there were no statistical differences between breast cancer patients and control group.Conclusion: As a conclusion of our study we may assert that p53 gene codon 72, MTHFR gene C677T and PAI‐1 gene 4G/5G polymorphisms should not be considered as susceptibility factors for breast cancer development. However polymorphism studies with larger numbers of the population provides more meaningful results. The significance of our result remains to be further investigated in different and even larger populations, combined with other polymorphisms considered as susceptibility factors for breast cancer.

Significant association of interleukin-4 gene intron 3 VNTR polymorphism with susceptibility to knee osteoarthritis

ObjectiveInterleukin-4 (IL-4) is a strong chondroprotective cytokine and polymorphisms within this gene may be a risk factor for osteoarthritis (OA). We aimed to investigate genotype and allele frequencies of IL-4 gene intron 3 variable number of tandem repeats (VNTR) polymorphism in patients with knee OA in a Turkish population. MethodsThe study included 202 patients with knee OA and 180 healthy controls. Genomic DNA was isolated and IL-4 gene 70bp VNTR polymorphism determined by using polymerase chain reaction (PCR) with specific primers followed by restriction fragment length polymorphism (RFLP) analysis. ResultsOur result show that there was statistically significant difference between knee OA patients and control group with respect to IL-4 genotype distribution and allele frequencies (p=0.000, OR: 0.20, 95% CI: 0.10–0.41, OR: 0.22, 95% CI: 0.12–0.42, respectively). ConclusionsOur findings suggest that there is an association of IL-4 gene intron 3 VNTR polymorphism with susceptibility of a person for development of knee OA. As a result, IL-4 gene intron 3 VNTR polymorphism could be a genetic marker in OA in a Turkish study population. This is the first association study that evaluates the associations between IL-4 gene VNTR polymorphism and knee OA.

HLA-B27 Allele Frequency in a Turkish Study Population with Primary Osteoarthritis

Abstract Aim: It was aimed to determine the frequency of HLA-B27 allele in patients with primary osteoarthritis in a Turkish study population. Materials and Methods: Genomic DNA was extracted from 87 patients with primary osteoarthritis and 51 healthy controls in the study. DNA was amplified by using HLA-B27 PCR kit. Products were assessed with UV transluminator by being exposed to 2% agarose gel electrophoresis. Results: There was no significant difference between patients and controls. Frequency of HLA-B27 was %16 in patients and %19 in control group. Conclusion: This study gives an idea about the frequency of HLA-B27 in primary osteoarthritis. We may assert that the frequency of HLA-B27 in primary osteoarthritis does not differ from the healthy population.

Etiology of hypopituitarism in tertiary care institutions in Turkish population: analysis of 773 patients from pituitary study group database

Hypopituitarism in adult life is commonly acquired and the main causes are known as pituitary tumors and/or their treatments. Since there are new insights into the etiology of hypopituitarism and presence of differences in various populations, more studies regarding causes of hypopituitarism are needed to be done in different ethnic groups with sufficient number of patients. Therefore, we performed a multi-center database study in Turkish population investigating the etiology of hypopituitarism in 773 patients in tertiary care institutions. The study was designed and coordinated by the Pituitary Study Group of SEMT (The Society of Endocrinology and Metabolism of Turkey). Nineteen tertiary reference centers (14 university hospitals and 5 training hospitals) from the different regions of Turkey participated in the study. It is a cross-sectional database study, and the data were recorded for 18 months. We mainly classified the causes of hypopituitarism as pituitary tumors (due to direct effects of the pituitary tumors and/or their treatments), extra-pituitary tumors and non-tumoral causes. Mean age of 773 patients (49.8 % male, 50.2 % female) was 43.9 ± 16.1 years (range 16-84 years). The most common etiology of pituitary dysfunction was due to non-tumoral causes (49.2 %) among all patients. However, when we analyze the causes according to gender, the most common etiology in males was pituitary tumors, but the most common etiology in females was non-tumoral causes. According to the subgroup analysis of the causes of hypopituitarism in all patients, the most common four causes of hypopituitarism which have frequencies over 10 % were as follows: non-secretory pituitary adenomas, Sheehan's syndrome, lactotroph adenomas and idiopathic. With regard to the type of hormonal deficiencies; FSH/LH deficiency was the most common hormonal deficit (84.9 % of the patients). In 33.8 % of the patients, 4 anterior pituitary hormone deficiencies (FSH/LH, ACTH, TSH, and GH) were present. Among all patients, the most frequent cause of hypopituitarism was non-secretory pituitary adenomas. However, in female patients, present study clearly demonstrates that Sheehan's syndrome is still one of the most important causes of hypopituitarism in Turkish population. Further, population-based prospective studies need to be done to understand the prevalence and incidence of the causes of hypopituitarism in different countries.

Usage of neck circumference as novel indicator of erectile dysfunction: a pilot study in Turkish population

Erectile dysfunction (ED) is the most common male sexual problem worldwide. The association between ED and components of metabolic syndrome (MtS) is well established. This study examined neck circumference (NC) as a possible indicator of MtS and also of ED. Ninety-two patients were included and divided into two groups. Group 1 consisted of 47 patients with ED and Group 2 consisted of 45 healthy volunteers. Questionnaires, differences in anthropometric and laboratory measurements between patients with ED and the control group, and a cut-off value for NC were investigated. The mean NC in ED patients was higher in Group 1 than in Group 2 (P=0.001), and Group 1 also demonstrated more MtS criteria than Group 2 (P<0.001). The cut-off point of NC was defined as 34.75cm for ED and MtS. The cut-off values of waist circumference for ED and MtS were 105.5 and 102.5cm respectively. In the light of these findings, NC may be a new component of MtS in ED patients. Additionally, NC may be a novel indicator of central obesity and ED. We suggest that NC values of 35cm and over may predict ED in patients with MtS.

Associations between the functional polymorphisms in the ABCB1 transporter gene and colorectal cancer risk: a case-control study in Turkish population

Colorectal cancer is among the most common cancer types in the world and its etiology involves the interaction of genetic and environmental factors. ABCB1 is highly expressed in the apical surface of colonic epithelial cells and acts as an efflux pump by transporting toxic endogenous substances, drugs and xenobiotics out of cells. ABCB1 polymorphisms may either change its protein expression or alter its function. Several studies have reported a possible association between ABCB1 variants and colorectal cancer, but no consistent conclusion has been arrived at. Therefore, we aimed to investigate the relationship between colorectal cancer and the functional common variants of ABCB1 (1236C > T; 2677G > T/A; 3435C > T). The distributions of the variants were determined in 103 patients with colorectal cancer and 150 healthy volunteers using polymerase chain reaction–restriction fragment length polymorphism methods. ABCB1 1236C > T was statistically significantly associated with colorectal cancer risk (OR, odd ratio = 1.91; 95% CI, confidence interval = 1.09–3.35; p = 0.034). In haplotype-based analysis, the proportion of individuals with the ABCB1 haplotype C1236-G2677-T3435 was significantly more common in patients than in controls (OR = 11.96; 95% CI = 2.59–55.32; p = 0.0004). We believe that the findings may be beneficial to the development of efficacious preventive strategies and therapies for colorectal cancer.

DD genotype of ACE gene I/D polymorphism is associated with Behcet disease in a Turkish population

Behcet's disease (BD) is a chronic, multi-systemic and inflammatory disorder. The local renin-angiotensin system (RAS) in the vessel wall plays a role in the endothelial control and contributes to inflammatory processes. Angiotensin-converting enzyme (ACE) is the regulatory component of the RAS. This study was conducted in Turkish patients with BD to determine the frequency of I/D polymorphism genotypes of ACE gene. Genomic DNA obtained from 566 persons (266 patients with BD and 300 healthy controls). ACE gene I/D polymorphism genotypes were determined using polymerase chain reaction using I and D allele-specific primers. There was statistically significant difference between the groups with respect to genotype distribution (p < 0.001). This study is the largest study in Turkish population that ACE gene I/D polymorphism investigated in BD. As a result of this study, ACE gene I/D polymorphism DD genotype could be a genetic marker in BD in Turkish study population.

Association of angiotensin converting enzyme (ACE) gene I/D polymorphism and rheumatoid arthritis

We sought to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene in Turkish patients with rheumatoid arthritis. Genomic DNA obtained from 256 individuals (110 patients with rheumatoid arthritis and 146 healthy controls) was used in the study. ACE gene I/D polymorphism genotypes were determined using polymerase chain reaction using I and D allele-specific primers. There was a statistically significant difference between the groups with respect to genotype distribution (p=0.001). A significant difference was found in frequencies of ACE I/D alleles between patients and controls, with RA patients having a higher representation of D and lower representation of I alleles compared to controls (p<0.001). As a result of our study, angiotensin converting enzyme gene I/D polymorphism DD genotype could be a genetic marker in rheumatoid arthritis in the Turkish study population.

Broader autistic phenotype in parents of children with autism: A study in Turkish population by using the AQ-Turkish version

Broader autistic phenotype in parents of children with autism: A study in Turkish population by using the AQ-Turkish version

Association of angiotensin converting enzyme (ACE) gene I/D polymorphism and polycystic ovary syndrome (PCOS)

This study was conducted in Turkish patients with polycystic ovary syndrome to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene, and to examine the role of this polymorphism in polycystic ovary syndrome development. Genomic DNA obtained from 200 persons (100 patients with polycystic ovary syndrome and 100 healthy controls) was used in the study. DNA was multiplied by polymerase chain reaction using I and D allele-specific primers. Polymerase chain reaction products were assessed with a charge coupled device (CCD) camera by being exposed to 2% agarose gel electrophoresis. There was statistically significant difference between the groups with respect to genotype distribution (p<0.001). The D allele frequency was indicated as 68% and I allele was as 32% in the patients, whereas it was 51.5–48.5% respectively in the control group. As a result of our study we may assert that angiotensin converting enzyme gene I/D polymorphism DD genotype should be considered as a genetic marker in polycystic ovary syndrome development in this Turkish study population.

Genetic Variation of Myeloperoxidase Gene Contributes to Preeclampsia: A Preliminary Association Study in Turkish Population

Objective. To examine MPO gene polymorphisms of women with preeclampsia in Turkish population. Methods. Sixty-one preeclamptic and 61 normotensive women without history of preeclampsia in earlier pregnancies were enrolled in this prospective controlled study. MPO mutations were characterized by PCR-RFLP method. Results. We demonstrated a significant difference in patients with preeclampsia in terms of genotype frequency. Heterozygous carriers of −463A among preeclamptic pregnancies were significantly frequent, whereas rare A/A homozygotes failed to differ from controls. Conclusion. The −463G/A polymorphism of leukocyte MPO could be an intriguing susceptibility factor that modulates an individual's risk of preeclampsia in Turkish population.

The Positive Psychotherapy Inventory (PPTI): Reliability and Validity Study in Turkish Population

The interaction between individuals and their environment generates both happiness and psychopathology. To explore this interaction and the intersections between the two, there is a new scientific approach introducing a new theory of well-being, Positive Psychology. The approach from which Positive Psychotherapy evolves, is the scientific study of positive emotions, positive individual traits and strengths (Seligman,2002). The goal is to help individuals learn that they can grow as a result of their experiences even if the experience is traumatic. Positive psychotherapy (Rashid, Seligman and Parks, 2006) on the other hand, is a psychotherapeutic method that builds positive emotions, strengths and meaning in an individual's life to undo psychopathology and promote happiness. On the road of helping individuals to discover their strengths such as optimism, hope, humor, and resilience, meaning takes added importance. As an assessment tool, the positive psychotherapy inventory gives the mental health professionals an opportunity to see the outcomes of the therapeutic process. The aims of the present study is to investigate and examine the relability and validity study of the Positive Psychotherapy Inventory in Turkish population. The inventory is administered to turkish population including university students, and professionals. Internal consistency and test-retest reliability, factor analysis, and correlations with good convergent validity revealed the instrument had satisfactory psychometric values, indicating that it can be validly and reliably used in normal and clinical populations.

The Strength spotting Scale: Reliability and Validity Study in Turkish Population

What makes some of us stronger, happier, and more satisfied than the norm. What may be strengths character in subjective well- being? It involves encouraging people to invest in developing their strengths and also learning to think differently about both good and bad events and appreciating that there is more than one path to an emotionally satisfying life. The aims of the present study is to investigate and examine the relability and validity study of Strengthspotting Scale in Turkish population. The scale is administered to Turkish population including university students. Internal consistency and test-retest reliability, factor analysis, and correlations with good convergent validity revealed the instrument had satisfactory psychometric values, indicating that it can be validly and reliably used in normal and clinical populations.

DD genotype of ace gene I/D polymorphism is associated in a turkish study population with osteoarthritis

This study was conducted in Turkish osteoarthritis patients to determine the frequency of I/D polymorphism genotypes of angiotensin converting enzyme gene, and to examine the role of this polymorphism in osteoarthritis development. Genomic DNA obtained from 200 persons (135 patients with osteoarthritis and 65 healthy controls) was used in the study. DNA was multiplied by polymerase chain reaction using I and D allele-specific primers. Polymerase chain reaction products were assessed with CCD camera by being exposed to 2% agarose gel electrophoresis. There was statistically significant difference between the groups with respect to genotype distribution (P < 0.001). The D allele frequency was indicated as 69% and I allele was as 31% in the patients, whereas it was 55-45% in the control group. Consequently, in this study, we may assert that ACE gene I/D polymorphism DD genotype determination is significant criteria for identifying patients who are likely to develop osteoarthritis in east population of Turkey.

Relationship between Bone Mineral Density and Clinical Features in Patients with Inflammatory Bowel Disease: A Local Study in Turkish Population

This study aimed to compare the bone mineral density (BMD) of patients with ulcerative colitis (UC) and Crohn's disease (CD) in order to determine the possible risk factors for bone loss. A total of 142 patients with UC (n = 88) and CD (n = 54) participated in the study. They were assessed for gender, body mass index (BMI), disease duration and activity, intestinal site of involvement, history of bowel resection, use of steroids, and extra-intestinal findings and complications. The BMD was measured by dual-energy X-ray absorptiometry. There were no differences in BMD between UC and CD patients. In UC patients, BMI showed a significant positive correlation with BMD. Femoral neck Z scores were lower in patients with extra-intestinal findings and complications. Steroid use, disease activity, disease localization, disease duration, bowel surgery and gender had no influence on BMD. Complications or extra-intestinal involvement were a significant predictor for BMD in both groups.

Genetic variation of myeloperoxidase gene contributes to aggressive periodontitis: a preliminary association study in Turkish population.

Myeloperoxidase (MPO) is a lysosomal enzyme found in the azurophilic granules of polymorphonuclear leukocytes. It is involved in the defense against periodontal bacteria, and is also able to mediate inflammatory tissue destruction in aggressive and chronic periodontitis. The aim of this study was to explore the association between MPO-463G/A gene polymorphism and aggressive periodontitis (AgP) and chronic periodontitis (CP). The study included 147 subjects. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI), and gingival index (GI) were recorded as the clinical parameters. Genomic DNA was obtained from the peripheral blood of 32 subjects with AgP, 25 with CP, and 90 reference controls. We genotyped the MPO-463G/A polymorphism using the PCR-RFLP method. All data were analyzed using SPSS version 13.0 for windows. There were no significant differences between the CP patients and controls regarding MPO-463A/G gene polymorphism either in terms of allele frequency or genotype frequency of MPO-463A/G. However, either in terms of allele frequency or genotype frequency of MPO-463A/G, there were significant differences between the AgP patients and the controls. In conclusion, our data suggest that MPO-463G/A may be associated with increased risk of aggressive periodontitis in Turkish patients.

Genetic Variation of Myeloperoxidase Gene Contributes to Aggressive Periodontitis: A Preliminary Association Study in Turkish Population

Myeloperoxidase (MPO) is a lysosomal enzyme found in the azurophilic granules of polymorphonuclear leukocytes. It is involved in the defense against periodontal bacteria, and is also able to mediate inflammatory tissue destruction in aggressive and chronic periodontitis. The aim of this study was to explore the association between MPO-463G/A gene polymorphism and aggressive periodontitis (AgP) and chronic periodontitis (CP). The study included 147 subjects. Probing depth (PD), clinical attachment loss (CAL), plaque index (PI), and gingival index (GI) were recorded as the clinical parameters. Genomic DNA was obtained from the peripheral blood of 32 subjects with AgP, 25 with CP, and 90 reference controls. We genotyped the MPO-463G/A polymorphism using the PCR-RFLP method. All data were analyzed using SPSS version 13.0 for windows. There were no significant differences between the CP patients and controls regarding MPO-463A/G gene polymorphism either in terms of allele frequency or genotype frequency of MPO-463A/G. However, either in terms of allele frequency or genotype frequency of MPO-463A/G, there were significant differences between the AgP patients and the controls. In conclusion, our data suggest that MPO-463G/A may be associated with increased risk of aggressive periodontitis in Turkish patients.

The prevalence of absence of the palmaris longus: a study in Turkish population

It is well known that there is a wide variation in the reported prevalence of the palmaris longus (PL) absence in different ethnic groups. This prospective study was conducted to determine the prevalence of absence of PL and correlate it with gender and body side in Turkish population. In total, 1,350 randomly selected adult patients (675 men and 675 women) who admitted to our outpatient clinic were examined for the absence of PL using Schaeffer's test and Mishra's second test. The absence of PL on both sides, results of the first and second examination tests, age, gender and dexterity were recorded and analyzed statistically. The overall prevalence of absence of PL (unilateral or bilateral) was 26.6% in Turkish population. The absence of PL in women was statistically more common than men. Bilateral absence of PL was statistically frequent than unilateral absence. The prevalence of absence of PL was statistically similar between the body sides. Mishra's second test which involves resisted abduction of the thumb, may be better in demonstration of the PL where the muscle was feebly developed, particularly in women.

Subgingival microflora in Turkish patients with periodontitis.

No information exists on periodontitis-associated subgingival microbiota from Turkey. We determined the occurrence, interspecies relationships, and clonal characteristics for a group of periodontal bacteria in a Turkish study population. Subgingival microbial samples were obtained from patients with localized (LAgP, N = 18) or generalized (GAgP, N = 17) types of aggressive periodontitis, generalized chronic periodontitis (GCP, N = 14), and non-periodontitis subjects (N = 20). Culture methods were used to recover 6 periodontal bacterial species and yeasts, and a polymerase chain reaction technique was used to detect Actinobacillus actinomycetemcomitans and Porphyromonas gingivalis. Intraspecies characterization of A. actinomycetemcomitans was carried out by serotyping and genotyping. All species, except for Micromonas micros (formerly Peptostreptococcus micros) occurred more frequently (P < 0.05) in periodontitis than non-periodontitis subjects. Detection frequencies for Tannerella forsythensis (formerly Bacteroides forsythus) and Campylobacter rectus differed among the periodontitis subgroups; the lowest frequency occurred in LAgP. The mean proportions of A. actinomycetemcomitans, P. gingivalis, and C. rectus were higher (P < 0.008) in GAgP than in non-periodontitis subjects. Significant positive associations were seen between 7 of the 22 possible combinations (P < 0.05). A. actinomycetemcomitans serotype c (34%) and non-serotypeable isolates (34%) were the most common antigenic types among the 305 strains analyzed. Eleven arbitrarily primed (AP)-PCR genotypes were distinguished among 273 isolates from 29 subjects. Yeasts were found in 23% of the 69 subjects. The results on the Turkish study population were generally in line with earlier reports on the occurrence and interspecies relationships of certain bacteria in periodontitis. However, A. actinomycetemcomitans was not overrepresented in LAgP, and the serotype distribution resembled that reported from the East. The high frequency of non-serotypeable isolates suggests local characteristics of the species.