Is there a relationship between polycystic ovary syndrome and the FABP1 gene rs2197076 single nucleotide polymorphism?

Aim: Polycystic ovary syndrome (PCOS) is a multifactorial, endocrine, and metabolic disorder seen in 10%-20% of women of reproductive age. Due to the close relationship observed between the increased risk of type 2 diabetes and insulin resistance and the polymorphism of the fatty acid binding protein 1 (FABP1) gene rs2197076 single nucleotide polymorphism (SNP), we investigated the frequency of the FABP1 gene rs2197076 SNP in patients with PCOS. Methods: This is a prospective case-control study. The study included 151 women—75 patients with PCOS and 76 healthy women. A real-time polymerase chain reaction was performed for the FABP1 rs2197076 polymorphism. Additionally, biochemical and hormonal levels of the patients were studied. Results: Menstrual irregularities, the body mass index (BMI), hirsutism scores, the luteinizing hormone / follicular stimulating hormone ratio, dehydroepiandrosterone sulfate and testosterone levels were significantly higher in the PCOS group than in the control. There was no significant difference between the PCOS and control groups in terms of FABP1 rs2197076 genotype distribution and FABP1 rs2197076 allele frequency distribution. Conclusion: There was no increase in the genotype distribution and allelic frequency of the FABP1 gene rs2197076 SNP in PCOS patients. Further studies are needed on this subject

G1733A (RS6152) polymorphism of the androgen receptor gene in patients with prostate cancer

Aim: The causes of prostate cancer development and molecular mechanism underlying its development and progression are not clearly understood. The aim of this study is to determine the frequency of G1733A (rs6152) polymorphism of the androgen receptor (AR) gene among patients with prostate cancer, and to examine the role of this polymorphism in the development of prostate cancer. Method: DNA samples isolated from 96 individuals (49 patients with prostate cancer and 47 controls) were analyzed with real time-polymerase chain reaction (real time-PCR) in order to determine G1733A (rs6152) polymorphism genotypes and allele frequencies in the AR gene. The results were evaluated statistically. Results: Genotype frequency was determined as 91% GG and 9% AG among the controls, and 67% GG and 33% AG among the patients. G allele frequency was 95% in controls and 83% in patients, whereas A allele frequency was 5% in controls and 17% in patients. There was a statistically significant difference between patient and control groups regarding genotype frequency (p<0.05). Conclusion: Based on the results of our study, we can infer that G1733A (rs6152) polymorphism of the AR gene plays a role in development of prostate cancer in the Turkish population

Investigation of variants of critically important antioxidant enzyme genes in patients with polycystic ovary syndrome

Aim: To investigate the possible effects of polymorphisms in genes encoding some important antioxidant enzymes such as super oxide dismutase 2 (SOD2), glutathione peroxidase 1 (GPX1), endothelial NOS (eNOS) and catalase (CAT) in patients with polycystic ovary syndrome (PCOS).Methods: Peripheral blood of 100 patients with PCOS and 100 healthy control group were collected, Polymorphisms in related genes was investigated by using polymerase chain reaction-restriction fragment length polymorphism. In addition, the related biochemical values of the patients were also investigated.Result: In our study there is no significant results for SOD2 gene but the results obtained between GPX1, eNOS and CAT genes were significant. Fasting blood sugar (FBS), insulin, triglyceride, waist circumference and dehydroepiandrosterone sulphate (DHEAS) were found to be significant with the disease, whereas follicle-stimulating hormone (FSH) was found to be effective in preventing the disease.Conclusions: These findings suggest that polymorphisms in genes encoding GPX1, eNOS and CAT enzymes may be associated with PCOS. Additionally, it is thought that the genes of FBS, triglyceride, insulin, DHEAS and waist circumference are important in the pathogenesis of the disease in the presence of homozygous mutation

The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey

Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis. Alstrom Syndrome is caused by mutations in ALMS1, and ALMS1 protein is thought to have a role in microtubule organization, intraflagellar transport, endosome recycling and cell cycle regulation. Here, we report extensive phenotypic and genetic analysis of a large cohort of Turkish patients with ALMS. We evaluated 61 Turkish patients, including 11 previously reported, for both clinical spectrum and mutations in ALMS1. To reveal the molecular diagnosis of the patients, different approaches were used in combination, a cohort of patients were screened by the gene array to detect the common mutations in ALMS1 gene, then in patients having any of the common ALMS1 mutations were subjected to direct DNA sequencing or next-generation sequencing for the screening of mutations in all coding regions of the gene. In total, 20 distinct disease-causing nucleotide changes in ALMS1 have been identified, eight of which are novel, thereby increasing the reported ALMS1 mutations by 6% (8/120). Five disease-causing variants were identified in more than one kindred, but most of the alleles were unique to each single patient and identified only once (16/20). So far, 16 mutations identified were specific to the Turkish population, and four have also been reported in other ethnicities. In addition, 49 variants of uncertain pathogenicity were noted, and four of these were very rare and probably or likely deleterious according to in silico mutation prediction analyses. ALMS has a relatively high incidence in Turkey and the present study shows that the ALMS1 mutations are largely heterogeneous; thus, these data from a particular population may provide a unique source for the identification of additional mutations underlying Alstrom Syndrome and contribute to genotype-phenotype correlation studies