Analysis of TP53 gene in uterine myomas: No mutations but P72R polymorphism is associated with myoma development.

AIM: The aim of the present study was to investigate the familial and somatic mutations as well as polymorphisms of TP53 gene in patients with uterine leiomyoma. METHODS: The study included 35 women with histologically diagnosed as uterine leiomyomas at the Gynecology Department of Adnan Menderes University Faculty of Medicine. Tissue and blood samples were analyzed for mutations and polymorphisms of TP53 gene by next generation sequencing (Miseq-Illumina). Acquired data was compared with the normal data in Ensembl database. Data from 1000 genome project and data from exome sequencing analyses in Intergen Genetic Diagnosis Center (Ankara) were used as controls for polymorphism analyses. RESULTS: There were no mutations in tissue and blood samples. However, when the polymorphisms were evaluated, a significant difference was found in NM_000546.5(TP53):c.215C > G (p.Pro72Arg) polymorphism between the study and control groups. The results indicated that P72R/P72R genotype increased the risk of leiomyoma development by 6.3 fold (95% confidence interval [CI]: 2.880-13.793). There was a negative correlation between P72R/WT genotype and leiomyoma development (OR = 0.261, 95% CI: 0.114-0.596). P72R/P72R genotype was statistically higher in the patients with leiomyoma compared with the controls and 1000 genomes from Asian, European and World populations. CONCLUSION: The results of the present study suggested that P72R/P72R genotype may be associated with development of uterine leiomyoma in the Turkish population in the Western part of the country.

Effects of two different low-dose oral contraceptives on plasma homocysteine levels.

OBJECTIVE: The aim of this study was to investigate the effects of two currently used low-dose combined oral contraceptives (COCs) (20 µg ethinyl estradiol [EE]/150 µg desogestrel [DSG] vs. 20 µg EE/100 µg levonorgestrel [LNG]) on plasma homocysteine levels. METHODS: A total of 90 participants were enrolled in the study; 30 of them had not been using COC for at least 12 months prior to their enrollment, while 60 were on regular treatment within 12-18 months. Therefore, the control group consisted of 30 participants. Group DSG/EE consisted of 30 women and group LNG/EE consisted of 30 women. Serum samples of homocysteine profile were obtained during the early follicular phase. RESULTS: Significantly lower serum homocysteine concentrations (Group DSG/EE: 7.2 +/- 1.3; Group LNG/EE: 9.1 +/- 3.2; CONTROL GROUP: 8.2 +/- 2.2; p<0.05) were observed in DSG/EE group compared to LNG/EE and control groups. CONCLUSION: Although the decrease in homocysteine levels with 20 µg EE/150 µg DSG containing COC was statistically significant, the clinical relevance of our findings needs to be further investigated.

Effects of standard and low dose 17beta-estradiol plus norethisterone acetate on body composition and leptin in postmenopausal women at risk of body mass index and waist girth related cardiovascular and metabolic disease.

OBJECTIVE: To compare the effects of standard and low dose of 17beta-estradiol/norethisterone acetate (E2/NETA) on body composition and leptin in postmenopausal women at risk of body mass index (BMI) -and waist girth (WG) related cardiovascular and metabolic disease. METHODS: Ninety postmenopausal women aged 45-55 years with BMI >or= 25 kg/m2 participated in this 6-month prospective, randomized, single-blinded and controlled study, conducted between September 2004 and April 2006 at Adnan Menderes University Hospital. According to their WG, the subjects were divided into 2 risk groups: WG <88 cm (Group increased risk [IR], n=48) or WG >or= 88 cm (Group high risk [HR], n=42). The subjects in each group were equally assigned to receive standard or low dose of E2/NETA (2 mg E2/1 mg NETA, or 1 mg E2/0.5 mg NETA). Accordingly, the 2 groups were divided into 4 subgroups. Serum leptin levels (SLLs), body weight/height, waist/hip girth, BMI and waist-to-hip ratio were evaluated before and after therapy. RESULTS: In the Group IR, WG decreased significantly only in low dose subgroup. In the Group HR, both standard and low dose subgroups had a significant reduction in WG. Those who had WG >or= 88 cm showed more reduction than those who had WG <88 cm in response to both doses of E2/NETA, insignificantly. Basal SLLs had a significant correlation with body weight, BMI and WG. CONCLUSION: Oral standard and low dose E2/NETA reduce WG and attenuate the BMI- and waist girth- related risk of cardiovascular and metabolic diseases in postmenopausal women.