An association study of polymorphisms in the H19 imprinted gene in an Iranian population with the risk of polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies that causes problems in female fertility at the reproductive age. PCOS is a multifactorial disease, with genetic factors playing a crucial role in its development. H19 is a long non-coding RNA (lncRNA) expressed from the maternal chromosome, which is correlated with PCOS. In this study, 115 women suffering from PCOS and 130 healthy women with regular menstrual cycles were recruited as case and control groups, respectively. After the extraction of genomic DNA, the restriction fragment length polymorphism polymerase chain reaction was employed for genotyping of rs2067051G>A and rs3741219T>C. Statistical analysis was done using SPSS package V.22 for Windows. In silico analysis was recruited to determine the effects of SNPs on the secondary structure of gene transcript as well as miRNA binding sites. The obtained data showed that the A allele of rs2067051G>A was associated with the high risk of PCOS (OR = 2.00, 95%CI = 1.38-2.91, P = 0.00). AG and AA genotypes led to a 3.64- and (about) a five-fold increase in the risk of PCOS, respectively (95%CI = 2.02-6.54, P = 0.00, and 95%CI = 1.51-16.52, P = 0.00, respectively). These variants caused a significant increase in the risk of this disorder in all genotype models except in the recessive model. However, no association was found between rs3741219T>C and the increased risk of PCOS, either in the allele or in the genotype models. According to the findings, rs2067051G>A is associated with an increased risk of PCOS in the Iranian population.

Evaluating International Prostate Symptom Score (IPSS) in Accuracy for Predicting Post-Operative Urinary Retention After Elective Cataract Surgery: A Prospective Study.

BACKGROUND: Postoperative urinary retention-a common and important complication of surgical procedures, can occur after any form of surgical intervention, in both sexes and all ages regardless of patients' previous history of urinary problems. The importance of post operative urinary tract retention is due to its effect on development of post operative urinary infection, patient anxiety and discomfort, prolongation of hospital stay and increase in hospital costs and morbidity. The International Prostate Symptom Score (IPSS) is an easy method for quantifying and estimating the association between pre-operative bladder-outflow problems and post-operative urinary retention. The aim of present study was to investigate whether the IPSS could predict the likelihood of patients developing urinary retention after elective cataract surgery. METHODS: One hundred and fourteen male patients older than fifty years old, who were candidate for elective cataract surgery, were enrolled in this study. All patients completed an IPSS questionnaire form before operation, and classified into three groups regarding their score (0-7: mild, 8-19: moderate, 20- 35: severe). RESULTS: Totally 8 patients (7%) developed post-operative urinary retention during first 24 hours after operation. Of the 8 urinary retention patients, 2 had moderate symptoms and 6had severe symptoms. There was a significant difference in developing postoperative urinary retention between patients having mild symptoms and patients having severe symptoms (P-value: 0.025). CONCLUSION: It is concluded that while some litterateurs definitely support the idea that IPSS may be useful for predicting post operative urinary retention, there are still some controversies. Considering our results, it seems that IPSS score is not useful in the accurate prediction of those patients who are likely to develop postoperative retention after surgical procedures other than arthroplasty, and more precise studies are need to be conducted about urinary retention occurring postoperatively in different type surgeries, different methods of anesthesia considering age and gender of patients.

Association of polymorphisms and haplotypes in the cytochrome P450 1B1 gene with uterine leiomyoma: A case control study.

Uterine leiomyoma (UL) is an estrogen-dependent neoplasm of the uterus and estrogen metabolizing enzymes affect its promotion and progression. The aim of the present study was to evaluate the association between four single-nucleotide polymorphisms (SNPs) of the cytochrome P450 1B1 (CYP1B1) gene and UL risk. Four SNPs of the CYP1B1 gene in 105 UL patients and 112 unrelated healthy controls were genotyped using a direct sequencing method. Haplotype analyses were performed with UNPHASED software and linkage disequilibrium (LD) was assessed by Haploview software. There were no associations between Leu432Val (rs1056836), Asp449Asp (rs1056837) and Asn453Ser (rs1800440) polymorphisms of the CYP1B1 gene and UL. Although the genotypic frequencies of the Arg368His (rs79204362) polymorphism did not differ between the two groups, the frequency of A (His) allele was significantly higher in UL females (P=0.02). In addition, the frequency of GTAA haplotype was significantly higher in the controls and played a protective role in UL susceptibility. A strong LD between the three common SNPs (rs1056836, rs1056837 and rs1800440) in the CYP1B1 gene was observed in the population. In conclusion, a higher frequency of the CYP1B1 368His (A) allele was observed in UL females. The frequency of the GTAA haplotype was significantly higher in healthy females and this haplotype played a protective role in UL susceptibility.

Age-dependent association of MDM2 promoter polymorphisms and uterine leiomyoma in South-East Iran: A preliminary report.

AIM: Murine double minute clone 2 (MDM2) is an important regulator of p53 tumor suppressor protein. Because increased MDM2 expression has been observed in different tumors, its polymorphisms are proposed to be associated with accelerated tumor formation. The aim of this study was to examine the association between T309G (rs2279744) and 40-bp Insertion/deletion (rs3730485) polymorphisms of the MDM2 gene and risk of uterine leiomyoma (UL). METHODS: We analyzed the MDM2 gene polymorphisms of 154 UL patients and 197 healthy controls by polymerase chain reaction (PCR) or PCR restriction fragment length polymorphism (RFLP) methods. RESULTS: The frequency of MDM2 T309G polymorphism genotypes was not different between UL women and controls. Although there was an association between MDM2 40-bp del/del genotype and UL before and after adjustment for age, the association between Insertion/deletion (Indel) genotype and UL was significant after adjustment for age. CONCLUSION: MDM2 T309G polymorphism was not associated with UL and MDM2 40-bp Indel polymorphism could be an age-related risk factor for UL.