scholarly journals DENND1A and THADA Gene Polymorphism Among Iraqi Women With Polycystic Ovary Syndrome

2019 ◽  
Vol 8 (3) ◽  
pp. 265-271
Author(s):  
Fadia J Alizzi ◽  
Hamdiyah Talab Kokaz ◽  
Qasim Sharhan Al-Mayah

Objectives: To study the two gene polymorphism (DENND1A and THADA genes) among Iraqi women with polycystic ovary syndrome (PCOS). Materials and Methods: This case-control study was done at the Gynaecological Department of Al-Yarmouk Teaching Hospital of AI-Mustansiriyah College of Medicine, Baghdad during January-December 2018. Two-hundred women were enrolled in the study, including 100 women with PCOS as the case group and 100 healthy and age-matched women as the control group. Main outcome measures were to analyze DENND1a gene polymorphism rs2479106 and THADA gene polymorphism rs12478601 at genotype and allelic levels. Results: The DENND1A gene polymorphism rs2479106 had three genotypes of AA, AG, and GG. The homozygous mutant genotype (GG) was considerably related to the incidence of PCOS (OR=5.43, 95% CI=1.13-25.97, P=0.034) with 5-time more risk compared with those carrying the wild homozygous genotype (AA). The heterozygous genotype (AG) was more but not statistically different (OR=1.73, 95% CI=0.85-3.54, P=0.131). At the allelic level, G allele was two times more frequent among cases compared to control cases with a highly significant difference. THADA gene polymorphism rs12478601 had three genotypes of CC, CT, and TT. Although TT genotype was repeated more among the case group than controls, the difference was not significant (P=0.346). Likewise, no significant differences were found in the allele distribution of this polymorphism. Conclusions: In general, the DENND1A-rs 2479106 polymorphism was considerably related to the incidence of PCOS among Iraqi women while THADA-rs12478601 polymorphism was not.

2020 ◽  
Vol 8 (A) ◽  
pp. 517-520
Author(s):  
Hilma Putri Lubis ◽  
Muhammad Fidel Ganis Siregar ◽  
Ichwanul Adenin ◽  
Binarwan Halim ◽  
Henry Salim Siregar ◽  
...  

BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders of women in the childbearing period. However, its pathophysiology is still unclear. Certain polymorphisms of the luteinizing hormone/choriogonadotropin receptor (LHCGR) genes may lead to changes in the bioactivity of this hormone. The important functional role of LHCGR in the metabolism of androgen and ovulation, the LHCGR gene variant, may be related to the risk of PCOS. AIM: The aim of this study was to evaluate the association between LHCGR Ins18LQ gene polymorphism and PCOS. METHODS: A case–control study was performed in women with PCOS and non-PCOS from May 2019 to October 2019 in HFC IVF Center. We included 50 women with PCOS and 50 healthy controls. Polymorphism of the LHCGR (ins18LQ) gene was genotyped using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: From this study, we found that there was no significant difference in the proportion of ages between the groups (p > 0.05). There were significant differences in the characteristics of body mass index, FSH level, LH level, and LH/FSH ratio between the PCOS and control groups (p < 0.05). We also found that the proportion of heterozygote variant non-ins/ins was higher in the PCOS group compared to the control group, but there was no significant difference between the polymorphisms of the non-ins and non-nonins variants between the PCOS and control groups (p = 0.269). The frequency of ins alleles was higher in the PCOS group compared to the control group. CONCLUSION: There was no significant association between LHCGR ins18LQ gene polymorphism and PCOS.


2015 ◽  
Vol 172 (3) ◽  
pp. 227-233 ◽  
Author(s):  
Rong Ju ◽  
Wei Wu ◽  
Juan Fei ◽  
Yufeng Qin ◽  
Qiuqin Tang ◽  
...  

ObjectiveTo assess whether single nucleotide polymorphisms of HSD17B5 (AKR1C3) (rs1937845 and rs12529) and HSD17B6 (rs898611) are associated with polycystic ovary syndrome (PCOS) in a Chinese population.DesignA case–control study was conducted to investigate the relation between HSD17B5 and HSD17B6 polymorphisms and PCOS.MethodsIn this study, 335 patients with PCOS and 354 controls were recruited. The genotypes of HSD17B5 (rs1937845 and rs12529) and HSD17B6 (rs898611) were detected by the TaqMan method.Results and conclusionsWe found that the genotypic frequencies of the rs1937845 polymorphism were different in subjects with PCOS compared with control, with the CT genotype being more commonly found in patients with PCOS than in controls (P=0.005). We observed a significantly 1.74-fold higher risk of CT genotype in the polymorphism rs1937845 in women with PCOS vs the control group (adjusted odds ratio (OR), 1.74; 95% CI=1.19–2.54; P=0.005). A similar, significant 1.47-fold higher risk (adjusted OR, 1.47; 95% CI=1.07–2.03; P=0.018) was demonstrated for T allele of polymorphism rs1937845 associated with PCOS. In patients with PCOS, the rs12529 (G>C) and rs1937845 (C>T) polymorphisms were strongly associated with the high level of testosterone. The TT carriers of polymorphism rs1937845 had a significantly increased homeostatic model assessment-B% (HOMA-B%) (P=0.045) and that might be associated with the high risk of insulin resistance. However, no significant difference was found in genotype or allele distributions of the polymorphisms rs12529 of HSD17B5 and rs898611 of HSD17B6 between patients with PCOS and controls. Additionally, the two polymorphisms of HSD17B5 are associated with hyperandrogenemia in patients with PCOS. In conclusion, our findings showed a significant statistical association between HSD17B5 rs1937845 and PCOS risk in Chinese women. The CT genotype and T allele frequency are influenced significantly to a higher extent in patients with PCOS than controls. Further studies are needed to confirm the results and find out the exact molecular mechanism of the polymorphism on the risk of hyperandrogenemia and PCOS.


Author(s):  
Sholeh Shahgheibi ◽  
Fariba Seyedoshohadaei ◽  
Danial Khezri ◽  
Solmaz Ghasemi

Background: Various strategies have been proposed for polycystic ovary syndrome (PCOS) treatment. Objective: To investigate and compare the number and size of ovarian follicles, endometrial thickness, and ovulation rate by traditional protocol (TP) and stair-step protocol (SSP). Materials and Methods: Sixty infertile PCOS women were allocated into two groups (SSP = 30 and control TP = 30) between May and October 2019 in the Besat Hospital, Sanandaj, Iran. In the SSP group, the infertile women were treated with 50 mg/daily clomiphene citrate (CC) for five days, while the nonresponsive women were prescribed 100 mg daily CC for five days in the same cycle. The maximum dose (150 mg) was administered until ovulation occurred. In the control group, in non-ovulatory cases, the dose was increased in the next cycle. Ultrasound was used to detect ovulation. Results: Endometrial thickness changes with various doses of CC were significantly different in the TP. The comparison of both protocols showed a significant difference in endometrial thickness only at 50 mg CC. The number of follicles in the left ovary was significantly different in both protocols at 150-mg CC. The size of ovarian follicles in the left ovary was significantly different between the two protocols at 100-mg CC. The ovulation rate was significantly different in the SSP at 100- and 150-mg doses of CC. Moreover, 86% of ovulation occurred at 100-mg CC in the SSP, while this rate was 73% in the TP. Conclusion: The most appropriate dose for ovulation in patients with PCOS is 100 mg CC. Key words: Polycystic ovary syndrome, Clomiphene, Infertility, Ovulation induction.


2021 ◽  
Vol 21 (03) ◽  
Author(s):  
Rozeena Shaikh

ABSTRACT Polycystic Ovary Syndrome (PCOS) is endocrine reproductive disorder which causes oligomenorrhea/ amenorrhea, infertility, type II diabetes. The present study aims in CYP19A1 polymorphism rs700519 (C/T) identification that elevates androgen among PCOS females in Quetta, Pakistan. Cross-sectional study involved enrollment of 100 control and 100 affected females. Blood samples were collected for genetic and hormonal analysis. The samples were amplified via ARMS PCR and analyzed by sequencing. The frequency of CC genotype in control and PCOS group was 48 percent and 33 percent. For CT, it was 52 percent and 67 percent. In control group, the allele frequency for C and T was 0.74 and 0.26. In PCOS group, it was 0.67 and 0.33 for C and T, respectively. The Pearson Chi-Square p=0.031 (p<0.05) at 95% Confidence Interval inferred a significant difference between the observed genotypes. The study inferred that CT genotype is a risk factor for PCOS progression in the population of Quetta.


2021 ◽  
Vol 8 (1) ◽  
pp. 48-54
Author(s):  
Aigul T. Safi ◽  
Aigerim B. Ospanova ◽  
Svetlana Yu. Kalinchenko ◽  
Mekan R. Orazov

Objective to evaluate and compare clinical, anamnestic and laboratory data of patients with polycystic ovary syndrome (PCOS) and without syndrome, including the level of vitamin 25(OH) D3. Material and methods. In this work, 81 patients were examined, who, at the 1st stage of the study, were divided into two groups depending on the presence or absence of signs of PCOS. The main group included 51 patients with signs of PCOS. The control group included 30 healthy women without signs of PCOS, matched by sex and age with the main group. The main and control groups were compared by clinical and anamnestic data, including birth weight, by the presence of complications of pregnancy and childbirth in their mothers during their gestation, by the level of vitamin D. PCOS was verified on the basis of diagnostic criteria Rotterdam (2003) and International guidelines on PCOS (2018). Vitamin 25(OH)D3 was determined by mass spectrometry (ng/ml). At the 2nd stage of the study, the main group with PCOS was divided into 2 subgroups depending on the waist circumference (WT). Subsequently, the subgroups were compared with each other in the same parameters as at stage 1, as well as in the level of insulin, low-density lipoprotein (LDL), triglycerides (TG), anti-Mllerian hormone (AMH), follicle-stimulating hormone (FSH) and luteinizing hormone (LH). To reflect the statistical results, the parametric parameters of the Students t-test were applied for two independent samples with equal or different variance. For nominal data Pearsons Chi-test, when the means are not calculated and a test is carried out for the presence of a relationship between nominal variables. Results. There was no statistically significant difference in vitamin 25(OH)D3 levels in patients with and without PCOS. Statistically significant differences in vitamin 25(OH)D3 levels were found in women with PCOS, depending on the waist circumference (WT). In these subgroups, differences were also found in the level of insulin, LDL, TG. Conclusion. The values of the level of vitamin 25(OH)D3 do not differ in the groups of patients with PCOS and without PCOS, but significantly correlate with the metabolic profile of patients.


2019 ◽  
pp. 2600-2608
Author(s):  
Yasmin L. Alsaadi ◽  
Ban Jasim Mohamad

Polycystic ovary syndrome (PCOS) is a mainly common endocrine disorder. Hyperandrogenism is the major standard in the diagnosisof PCOS development.Eighty women diagnosed with PCOS and twenty healthy women(aged 20-40 years)were enrolled in this study which was conducted at the infertility clinic of Kamal AL-Samaraay Hospital/ Baghdad. The diagnosis of PCOS was made according to the Rotterdam criteria. Body mass index (BMI, Kg/m2)was calculated by a specific formula. History of menstrual irregularity, hirsutism, acne, and alopecia was taken. Hormone levels in serum, namely luteinizing hormone (LH), follicle stimulating hormone (FSH), and testosterone were measured in all patients and control subjects.There was a statistically significant difference (P <0.05) in the BMI between the PCOS and control women.Also, the prevalence of overweight and obesity was much higher in PCOS women than in their matching control. The serum levels of LH, FSH, and testosterone were significantly different (P <0.05) in PCOS as compared to healthy women. Clinical hyperandrogenism (hirsutism and alopecia) were present in most of PCOS women, while acne wasa less useful clinical sign of hyperandrogenism.Inaddition, the prevalence of hirsutism and alopecia was  increased in obese  when compared with  overweight and lean PCOS women.


2021 ◽  
Vol 18 (4(Suppl.)) ◽  
pp. 1552
Author(s):  
Israa F. Ascar ◽  
Areej Sh. Hameed

The polycystic ovary syndrome is an endocrine condition. One of the leading causes of female infertility and the most common disorder among women. The work was being carried out on 100 Iraqi women (50 cases confirmed with PCOS and 50 controls). Between October 2019 and March 2020, blood samples were collected from the Advanced Institute of Infertility Diagnosis and Assisted Reproductive Technology at AL-Nahrain University and a private laboratory. ELISA was used to evaluate the biochemical parameters of preptin, FSH, insulin, LH, and CCL 18 in serum samples from the AFIAS-6 (AFIAS Automated Immunoassay System). The findings of the analysis indicate that, as opposed to the control group, values of prolactin (ng/ml), LH (mIU/ml), Preptin (pg/ml) and CCL 18 (ng/ml) Quite higher in PCOS sickness (p < 0.001) Compared with the patient group, the values of testosterone (ng/ml) and FSH (mIU/ml) was noticeably higher (p <0.05), and PRLR gene expression levels in PCOS patients were significantly increased by 3.6 times. I n summary, the levels of Preptin and CCL18 can be regarded as PCOS markers.


2019 ◽  
Vol 01 (04) ◽  
pp. 149-153
Author(s):  
Uki Retno Budihastuti ◽  
Eriana Melinawati ◽  
Sri Sulistyowati ◽  
Abdurrahman Laqief ◽  
M. Firdinan Dekawan

Objective: The study was conducted to determine whether there were differences in COX-2 expression in endometrial women with PCOS compared to fertile women. Methods: This study is a case-control study investigating the relationship between exposure (research factors) and disease, by comparing case group and control group based on their exposure status. The samples of this study were infertile polycystic ovary syndrome patients who were treated at the Sekar Fertility Clinic in Dr. Moewardi Hospital Surakarta, and fertile women seeking treatment at Dr. Moewardi Hospital Surakarta. The number of samples were 60 subjects consisting of 30 PCOS patients and 30 fertile women. The expression of COX-2 in endometrial biopsy LH + 5 until LH + 10 which meet the inclusion with Rotterdam criteria and exclusion criteria was checked by immunohistochemistry. The data was analyzed using the Mann-Whitney test. Results: The mean COX-2 expression in PCOS (10.83 ± 5.35) in fertile women (37.00 ± 7.76), p = 0.005. Regression test of COX-2 by adjusting external variables (occupation, age, education, menstrual disorders, familial history, menstrual cycle, menarche, obesity, contraception history) shows also higher expression in PCOS patient with OR = -7.063; CI = 0.462–108.066; p = 0.160. Conclusion: COX-2 expression in endometrium of women with PCOS is lower than it is in fertile women.


2003 ◽  
Vol 88 (2) ◽  
pp. 673-679 ◽  
Author(s):  
Francesco Orio ◽  
Stefano Palomba ◽  
Sebastiano Di Biase ◽  
Annamaria Colao ◽  
Libuse Tauchmanova ◽  
...  

The aim of this study was to investigate the homocysteine (Hcy) levels and the C677T polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR), a crucial factor of the Hcy metabolism in young women with polycystic ovary syndrome (PCOS). Seventy young women with PCOS and another 70 healthy women with low folate intake were enrolled. Cases and controls were matched for age, body mass index, and allele frequency. Hcy, vitamin B12, and folate levels were measured, and a genetic analysis of 5,10-MTHFR at nucleotide 677 was performed in all subjects. No difference in mean Hcy levels was observed between PCOS women in comparison to the control group. Considering the different MTHFR polymorphism, no significant difference was found in serum Hcy levels between subjects with PCOS and controls showing CC (10.4 ± 3.1 vs. 9.7 ± 2.9 μmol/liter ± sd) and CT genotypes (10.9 ± 3.8 vs. 11.0 ± 3.2 μmol/liter ± sd). In subjects with a TT homozygous state, a significant (P &lt; 0.05) difference was observed between PCOS and control women (11.5 ± 3.9 vs. 22.0 ± 7.8 μmol/liter ± sd). In conclusion, our data show that in PCOS women, the serum Hcy levels are normal, and the C677T polymorphism of MTHFR does not influence the Hcy levels like in controls.


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