Investigation of allele frequencies of polymorphic variants in genes that are related to polycystic ovary syndrome.

OBJECTIVE: Polycystic ovary syndrome is a hormonal disorder that normally affects women of reproductive age in the range of 18-44 years. This study aimed to investigate the allelic frequencies of two polymorphisms, IRS rs18012781 and INSR rs1799817, which are suspected to be involved in polycystic ovary syndrome. METHODS: The samples were obtained from the patients admitted to the Near East University Hospital, Department of Gynecology and Obstetrics. The samples were divided into two groups: control and polycystic ovary syndrome groups. Blood samples were collected from 55 women in the control group and 65 samples from the patient group. DNA from whole blood was obtained. The allelic frequencies of single-nucleotide polymorphisms were determined using real-time PCR. Results were presented as the heterozygous and homozygous state of the single-nucleotide polymorphisms. RESULTS: There were no significant differences in the allelic frequencies of the single-nucleotide polymorphisms between the patient and control groups. Further statistical analysis investigating the INSR Tm using the Mann-Whitney U test value revealed that there was no difference in the homozygous and heterozygous state of INSR rs1799817. The result of this study showed that there was no statistically significant difference between the allelic frequencies of IRS1 rs1801278 and INSR rs1799817 between the patient and control groups. CONCLUSION: These single-nucleotide polymorphisms do not seem to modify the risk of polycystic ovary syndrome, and they cannot be used as a marker in clinical circumstances to evaluate the possible occurrence of polycystic ovary syndrome.

Investigation of allele frequencies of polymorphic variants in genes that are related to polycystic ovary syndrome

SUMMARY OBJECTIVE: Polycystic ovary syndrome is a hormonal disorder that normally affects women of reproductive age in the range of 18-44 years. This study aimed to investigate the allelic frequencies of two polymorphisms, IRS rs18012781 and INSR rs1799817, which are suspected to be involved in polycystic ovary syndrome. METHODS: The samples were obtained from the patients admitted to the Near East University Hospital, Department of Gynecology and Obstetrics. The samples were divided into two groups: control and polycystic ovary syndrome groups. Blood samples were collected from 55 women in the control group and 65 samples from the patient group. DNA from whole blood was obtained. The allelic frequencies of single-nucleotide polymorphisms were determined using real-time PCR. Results were presented as the heterozygous and homozygous state of the single-nucleotide polymorphisms. RESULTS: There were no significant differences in the allelic frequencies of the single-nucleotide polymorphisms between the patient and control groups. Further statistical analysis investigating the INSR Tm using the Mann-Whitney U test value revealed that there was no difference in the homozygous and heterozygous state of INSR rs1799817. The result of this study showed that there was no statistically significant difference between the allelic frequencies of IRS1 rs1801278 and INSR rs1799817 between the patient and control groups. CONCLUSION: These single-nucleotide polymorphisms do not seem to modify the risk of polycystic ovary syndrome, and they cannot be used as a marker in clinical circumstances to evaluate the possible occurrence of polycystic ovary syndrome.

The expression profile of WNT/ß-catanin signalling genes in human oocytes obtained from polycystic ovarian syndrome (PCOS) patients.

Polycystic ovarian syndrome (PCOS) is a chronic hormonal turmoil that is demonstrated in 2.2-27% of women of pre-menopausal age. This disease is a complex multigenic disorder that results from the interaction between excess androgen expression, genetic susceptibility and environmental influences. PCOS is associated with 40% of female infertility and endometrial cancer. The WNT/ß-catenin signalling transduction pathway regulates aspects of cell proliferation, migration and cell fate determination in the tissue along with early embryonic development and controls the proper activation of the female reproductive system, along with regulating hormonal activity in ovarian granulosa cells. In the current study, we investigated the expression profiles of WNT/ß-catenin signalling pathway genes (AXIN2, FZD4, TCF4, WNT3, WNT4, WNT5A, WNT7A, WNT1, APC, GSK3B and ß-catenin) in a total of 13 oocyte samples. Seven of these samples were from polycystic women and six were from healthy women. The results of this study displayed the absence of expression of AXIN2, FZD4, TCF4, WNT5A, WNT3, WNT4 and WNT7A genes in ovaries from women with PCOS and from healthy women. While APC and ß-catenin expression levels were similar in the oocytes of both patients and controls, conversely, WNT1 and GSK3ß genes both showed elevated expression in the oocytes of patients with PCOS, therefore suggesting an association between aberrant expression of WNT1 and GSK3ß and the pathogenesis of PCOS. The observations of the current study could be helpful to provide evidence regarding the pathogenesis of PCOS and its treatment.

Should fertile women quit drinking alcohol to produce better quality oocytes?

Alcohol consumption has long been shown to affect both fetal health and pregnancy. In this study, antral follicle count, maturation level of oocytes including morphological assessment and number of metaphase I (MI), metaphase II (MII) and germinal vesicle (GV) stage oocytes obtained from young women (age < 30 years old) with or without alcohol consumption were investigated. In total, 20 healthy women who were social drinkers and 36 healthy women who do not consume alcohol were involved in this study. Women in both study and control groups were undergoing controlled ovarian stimulation. The antral follicle count and the number and quality of the oocytes retrieved were evaluated and recorded. In total, 635 antral follicles, 1098 follicles and 1014 oocytes with 820 MII, 72 MI and 78 GV stage oocytes were collected from the social drinkers. In the control group, 628 antral follicles, 1136 follicles and 1085 oocytes with 838 MII, 93 MI and 102 GV stage oocytes were evaluated. The results of this study showed that the antral follicle count was very similar in both groups. The number of oocytes and MII stage oocytes was slightly higher in the control group, although it was not a significant difference. This study showed that although the consumption of alcohol may have adverse effects post-implantation, it may not have a solid effect during oogenesis in young women. The results of this study are especially important in clinical settings as some women who are social drinkers undergo in vitro fertilization treatments.

Does cigarette smoking really have a clinical effect on folliculogenesis and oocyte maturation?

Infertility is the most common issue in the field of reproductive medicine. Many factors affect fertility status, including life-style choices such as cigarette smoking or alcohol use. The aim of this study was to investigate the effects of cigarette smoking on oocyte quality as well the quantity in young fertile women. In total, 56 young fertile women who were undergoing oocyte donation programmes were included in this study. The effects of cigarette smoking on antral follicle count, number of follicles and oocytes retrieved and morphology were assessed by an expert embryologist. The results of this study showed that cigarette smoking did not have a significant effect on the follicle count or the number of oocytes retrieved from young and fertile women. However, a significant difference was observed in the morphological assessment. In conclusion, although cigarette smoking does not seem to affect oocyte development, it had an effect on cytoplasmic anomalies and therefore may lower pregnancy chance. Therefore, it is crucial to give proper counselling to patients who are trying to become pregnant both naturally and by in vitro fertilization.

Polymorphisms in the tumor necrosis factor-alpha gene in Turkish women with pre-eclampsia and eclampsia.

The genetic background predisposing pregnant women to pre-eclampsia/eclampsia (PE/E) is still unknown. The aim of the current study was to investigate whether there is an association between the TNF-alpha-308 and 850 polymorphisms and PE or eclampsia. In this study, 40 cases of eclampsia, 113 cases of PE and 80 normotensive control cases were genotyped for the TNF-alpha-G-308A and C-850 polymorphisms. At position 308, the replacement of Guanine with Adenosine was denoted as TNF2. We found a significant difference between the TNF2 allele frequencies of the eclamptic, pre-eclamptic and normotensive controls. TNF2 (AA) polymorphism frequency was significantly higher among the eclamptics and pre-eclamptics (control : 5%, PE : 13.3%, E : 12.9%). A significantly different genotype distribution of C-850T polymorphism was observed between the PE/E and control groups, with the frequency of the variant TT genotype being significantly reduced in the preeclamptics (PE : 17% ; E : 17.5%) when compared with the control group (24.3%). We have demonstrated an association between TNF-alpha polymorphisms and pre-eclampsia susceptibility. However, it is not known whether C-850T polymorphism has a functional effect on the TNF-alpha gene. In addition, it was not possible to determine whether this polymorphism promotes the progression from PE to eclampsia because of no statistically significant difference between eclampsia and the controls.