Expression levels of circulatory mir-185-5p, vascular endothelial growth factor, and platelet-derived growth factor target genes in endometriosis

Background: Using blood-based biomarkers such as microRNAs (miRNAs) may allow particularly effective and minimally invasive diagnosis and treatment of endometriosis. Objective: We evaluated the differential expression of circulating miRNA-185-5p (miR- 185-5p), vascular endothelial growth factor (VEGF), and platelet-derived growth factor (PDGF) target genes between endometriosis and healthy women. Materials and Methods: 25 women with a history of endometriosis (grad III-IV) diagnosed by laparoscopy as the case group and 25 women without endometriosis underwent laparoscopy for ovarian cysts or pelvic pain as the control group were enrolled in this case-control study. Blood samples were obtained, and total RNA was used for high-throughput small RNA sequencing, and this was confirmed by means of quantitative real-time polymerase chain reaction (qRT-PCR). Results: miRNA expression profiling using non-coding RNA sequencing revealed that one miRNA including miR-185-5p was significantly down-regulated in the case group compared with the controls. The qRT-PCR results showed significant downregulation of the expression level of miR-185-5p (p < 0.01) in the plasma of the case group. Receiver operating characteristic (ROC) curve analysis showed the area of miR-185-5p under the ROC curve for endometriosis diagnosis was 0.919 (p < 0.001). The RT-PCR results demonstrated that there was no significant difference in the expression of VEGF and PDGF mRNA of blood samples in the cases compared to the control group (PDGF, p = 0.09 and VEGF, p = 0.36). Conclusion: The low expression of miR-185-5p in the plasma of women with endometriosis could be employed as an important non-invasive biomarker for early detection and screening of endometriosis by blood samples. Key words: Biomarker, miRNA, Diagnosis, Endometriosis, Angiogenesis

Investigating the rate of different ovarian response in in vitro fertilization cycles based on estrogen receptor beta +1730 polymorphism: A cross-sectional study

Background: The response to ovarian stimulation is different among women referring for assisted reproductive techniques. This difference could be due to different genotypes in genes related to reproduction such as estrogen receptor beta (E

Effect of dietary approaches to stop hypertension, and standard diets with and without curcumin on interleukin-1 alpha, 5-alpha reductase gene expressions, and androgenic and glycemic profile in polycystic ovary syndrome women undergoing IVF

Full Title: Effect of dietary approaches to stop hypertension, and standard diets with and without curcumin on interleukin-1 alpha, 5-alpha reductase gene expressions, and androgenic and glycemic profile in polycystic ovary syndrome women undergoing in vitro fertilization treatment: A study protocol Background: Polycystic ovary syndrome (PCOS) is one of the most common endocrine diseases with major reproductive and metabolic complications with an impact on public health. Hyperandrogenism and chronic inflammation have been suggested as the leading cause of pathophysiology and clinical manifestations associated with PCOS. It seems that the altered expression of genes involved in the synthesis of proinflammatory cytokine and androgens contribute to the promotion of PCOS. Objective: This trial aims to determine the effects of dietary approaches to stop hypertension (DASH) and standard diets with and without curcumin supplementation on the gene expression of interleukin (IL)-1α alpha, IL-5α reductase and androgenic and glycemic profile among PCOS patients, who are candidates for in vitro fertilization. Materials and Methods: 96 infertile women with PCOS, aged 18-40 yr, will participate in this randomized, placebo-controlled clinical trial. Based on treatment conditions and body mass index, the participants will be randomly divided into 4 equal groups using a randomized block design. They will receive a DASH or standard diet containing 52% carbohydrate, 18% protein, and 30% total fat, with the same prescribed sodium, plus 500 mg twice daily curcumin or placebo for 12 wk. The mRNA expression of IL-1α, 5α reductase, and androgenic and glycemic profiles will be measured at baseline and at the end of the study. Conclusion: Concomitant administration of DASH diet and curcumin supplementation may reduce IL-1α, 5α reductase gene expressions, and improve glycemic and androgenic profiles. Key words: Polycystic ovary syndrome, Dietary approaches to stop hypertension, Curcumin, Fertilization in vitro, Gene expression

Investigating the expressions of miRNA-125b and TP53 in endometriosis. Does it underlie cancer-like features of endometriosis? A case-control study

Background: Endometriosis is generally considered as a benign condition; however, there is a possibility for it to become cancerous. miR-125b is upregulated in both endometriotic tissues and serum samples of women with endometriosis but its potential targets in endometriosis are still not fully understood. Objective: The role of miR-125b in the regulation of TP53 expression in endometriosis was tested with a bioinformatics approach. In addition, the expression of miR-125b and TP53 in both eutopic (Eu-p) and ectopic endometrium (Ec-p) in the endometrium tissues of women with endometriosis was compared to those in the normal endometrium tissues of controls (Normal). Materials and Methods: In this case-control study, the Eu-p and Ec-p samples were collected from 20 women who underwent laparoscopic surgery, and the normal endometrium tissues were collected from 20 controls with no evidence of endometriosis. For bioinformatics approach, a protein-protein interaction network was constructed based on co-expressed potential targets of miR-125b. Quantitative polymerase chain reaction technique was used for the measurement of miR125b and TP53 expression. Results: Our results showed that miR-125b was significantly overexpressed in Ec-p (p-value: 0.021). In addition, there was a significant TP53 under expression in both the Ec-p and Eu-p samples compared with the Normal tissues (p-value: 0.003). Conclusion: The negative correlation between miR-125b and TP53 as well as a noticeable decreased expression of TP53 in both Ec-p and Eu-p samples may be interpreted as the roles of miR-125b/TP53 axis in the pathogenesis of endometriosis. In addition, these findings and bioinformatic analyses imply a possible role of miR-125b in cancer-like features of endometriosis. Key words: Endometriosis, TP53, miR-125b, Ectopic endometrium, Eutopic endometrium

Evaluation of polymorphism of P53 protein codon 72 in oral lichen planus by PCR technique

Background. Our research was aimed to study p53 protein codon 72 polymorphism, a single base pair change of either arginine (Arg; CGC) or proline (Pro; CCC) that creates 3 distinct genotypes in reticular oral lichen planus (OLP) in comparison to oral SCC which is the most common oral mucosal malignancy as positive control and inflammatory fibrous hyperplasia (IFH) lesion as negative control. Methods. Seventy paraffin-embedded tissue samples (30 OLP, 20 OSCC and 20 IFH) were studied. DNA was purified and amplified using allele-specific polymerase chain reaction to detect polymorphism. The final amplified products were identified using gel electrophoresis. Data were analyzed using chi-squared test and odds ratio. Results. The mean ages in the OLP, OSCC and IFH groups were 43.28, 58.2 and 53.47 years, respectively, with significant differences. There were no significant differences in gender between the three groups (P=0.413); however, the differences in genotypes and alleles were significant between the three groups (P=0.021 and P=0.030, respectively). By considering IFH as a reference, the frequency of proline allele in OLP and OSCC was significantly higher than that of arginine allele (P=0.015 and P=0.028, respectively). In addition, by considering OSCC as a reference and at P=1, there were no significant differences in the frequencies of alleles between OSCC and OLP. Conclusion. The results might indicate the premalignant potential of OLP, and such polymorphism might be a genetic predisposing factor for conversion of OLP to OSCC. In addition, in the subjects evaluated the proline allele was considered a risk factor

Evaluation of CAG repeat length in the androgen receptor gene and polycystic ovary syndrome risk in Iranian women: A case-control study

Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, which affects about 15-20% of women of reproductive age. The most important etiopathogenesis factor in its incidence is hyperandrogenism; over 70 candidate genes are known to be associated with this syndrome, such as the androgen receptor (AR) gene which encodes a steroid receptor and is located on the Xq11-12 chromosome. The N-terminus of exon 1 of AR contains a polymorphic trinucleotide repeat (CAG)n region that encodes glutamine tract. There are some studies showing that shorter AR CAG repeats are significantly related to enhanced AR sensitivity. Objective: This study investigated the frequency of the polymorphic expansion of the trinucleotide CAG repeats of AR in PCOS. Materials and Methods: 160 Iranian women aged 17-40 yr participated in this casecontrol study: 80 women as PCOS patients and 80 women as healthy controls according to the Rotterdam criteria. Other similar phenotype factors such as hyperandrogenism were not considered as PCOS. The frequency of polymorphic expansion of CAG trinucleotide repeats in PCOS patients was compared with the frequency in non-PCOS controls in using two primer sets for nested polymerase chain reaction. The polymerase chain reaction products were visualized on polyacrylamide gel and then were confirmed by a sequencing process. Results: The results did not show a significant correlation between the frequency of CAG repeats in AR and PCOS incidence. Conclusion: In contrast to some previous reports, the present data showed that the CAG length in PCOS cases did not significantly differ from that of controls. So, the AR (CAG)n does not appear to be a major factor for PCOS in Iranian women. Key words: Androgen receptor, (CAG)n repeats, Polycystic ovary syndrome

Detection of Human papillomavirus 16 and 18 types in oral squamous cell carcinoma patients in Yazd, Iran: A Case-Control Study

         The aim of this study was to ascertain the prevalence of human papillomavirus (HPV) 16/18 in oral squamous cell carcinoma (OSCC) and normal oral mucosa in Iranian individuals with OSCC and their association with various risk factors. The investigation followed a hospital-based case-control design. Cases were individuals with diagnosed OSCC, age- and sex-matched with controls. Sixty-six paraffin embedded tissue samples (39 OSCC and 27normal oral mucosa) were studied. DNA was purified to amplify HPV-DNA using HPV type specific primers-mediated polymerase chain reaction (PCR) method.Mean age was 64.2 ±14 years in cases (range 25-81 years), and 63.5 ±13.5 years in controls (range 22-78 years). Forty-three percent (17/39) of OSCC but none of normal oral mucosa were positive for HPV 16/18 DNA (p = 0.001). The most frequent type in patient group was HPV-16 type. The prevalence rate was high older in age (>50 years) and gender (male) and tongue tissue but no significant association was found (p=0.7, p=0.5 and p=0.42 respectively). We found a significant association of HPV16/18 with oral squamous cell carcinoma. Also, HPV16/18 is a co-factor in oral carcinogenesis. In addition, also it is suggested that HPV is as a risk factor independent of alcohol and tobacco can be effective in creating OSCC.

The association of arylendosulfatase 1 (SULF1 ) gene polymorphism with recurrent miscarriage

Abstract Purpose One of the most common problems in reproductive medicine is recurrent miscarriage (RM). There is increasing evidence showing genetic susceptibility of women is an important risk factor in the occurrence of RM. In recent years, there is a growing interest in sulfate and its role in fetal development. A novel mechanism of SULF1 has been demonstrated for modifying the activities of some growth factors and signalling molecules that have major roles during embryogenesis. The aim of present study was to evaluate the association of SULF1 gene polymorphism (rs6990375 G > A) in Iranian patients with RM. Methods We established a case-control study of 200 Iranian women: 100 patients with the history of two or more RM as cases and 100 healthy women with at least two cases of successful pregnancy and no history of miscarriage as controls. The polymorphism was examined by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) method. Results The genotypic analysis between case and controls showed significant differences (p-value=0.000). Allelic analysis showed no significant correlation (Χ2=3.36, p-value=0.066). The heterozygous genetic variant was significantly higher among healthy women (OR=12.67, 95 % CI=6.47-24.79). Conclusions Our data showed that rs6990375 polymorphism of SULF1 gene could be among one of the factors related to RM in Iranian women. Further evaluation of this polymorphism may be important and need further studies

Genetics of polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a genetically based disorder which reflects multiple potential aetiologies and variable clinical presentations. It is clearly a heterogeneous syndrome, and current proposed diagnostic criteria include a number of disorders with similar phenotypes but radically different aetiologies. The lack of well-defined diagnostic criteria makes identification of PCOS confusing to many clinicians and seriously delayed the clarification of its genetics, aetiology, clinical associations and assessment of treatment. There is no universally accepted clinical definition for PCOS. In this review the genetic causes and diagnosis criteria of PCOS will be discussed