Molecular Role of Asn680Ser and Asp37Glu Missense Variants in Saudi Women with Female Infertility and Polycystic Ovarian Syndrome.

Female infertility (FI) is a global health issue. Polycystic ovary syndrome (PCOS) is a common cause of FI. The renalase gene (RNLS) is associated with FI and other human diseases. Based on the documented missense variants, rs6166 and rs2296545 single-nucleotide polymorphisms (SNPs) were not identified in Saudi women with FI and PCOS. This study aimed to investigate the molecular role of the two SNPs in Saudi women with FI and PCOS. In this cross-sectional study, 96 healthy controls, 96 women with FI, and 96 women with PCOS were recruited. DNA was isolated, and polymerase chain reactions and Sanger sequencing analysis were performed using rs6166 and rs2296545 SNPs. The data obtained from the three groups were used to perform statistical analyses based on genotype, allele frequencies, regression models, and ANOVA analysis. Both rs6166 and rs2296545 had no role in FI or PCOS in Saudi women. A predicted reason for non-association in Saudi women could be the role of elderly women in the controls compared with women with FI and PCOS. Moreover, age, weight, and body mass index were higher in the control group than the FI and PCOS groups. In conclusion, rs6166 and rs2296545 SNPs were not associated with FI or PCOS in Saudi women.

Genetic contribution between APE1 variants in polycystic ovarian syndrome.

Introduction: Polycystic Ovarian Syndrome (PCOS) has been identified as a gynecological, hormonal, and metabolic condition in women of reproductive age. Genetic studies can contribute to understand the pathogenesis of PCOS; which can be beneficial in early diagnosis and long-term management of the disease. Apurinic/apyrimidinic endonuclease 1 (APE1) has been related in the literature to polycystic ovarian syndrome. Aim: The purpose of this study was to investigate the effects of -656 T > G and 1349 T > G single nucleotide polymorphisms (SNPs) in the APE1 gene in Saudi women with PCOS. Methods: This study includes 100 PCOS women and 100 healthy controls were genotyped for -656 T > G and 1349 T > G SNPs using PCR-RFLP method. Serum sample was used for FBG and lipid profile tests. The obtained biochemical and genotypes data were entered into Excel and utilized for statistical analysis. Results: Clinical data presented in Table 1 was used to calculate the t-tests between PCOS and control subjects and results indicate age, weight, BMI, TG, LDLC and PCOS family history was associated (p < 0.0001). Genotype and allele frequencies showed the negative association in -656 T > G SNP (GG vs TT: OR-1.15 (0.61-2.17); p = 0.65 and GG + TG vs TT: OR-1.17 (0.67-2.04); p = 0.57) and positive association in 1349 T > G SNP (GG vs TT: OR-3.52 (1.48-8.36); p = 0.003 and GG + TG vs TT: OR-2.84 (1.27-6.31); p = 0.008) in APE1 gene. Anova analysis was not associated with any one of the involved parameters (p > 0.05). Conclusion: This study found that the 1349 T > G SNP was related with PCOS in Saudi women. However, the -656SNP had no favorable effect on the APE1 gene.

Knowledge and awareness of folic acid usage in Saudi pregnant women in Riyadh city from 2019-2020.

BACKGROUND: Folic acid (FA) supplementation is an important intervention to avoid nutritional deficiencies during pregnancy and later on will have an effect on mother and fetus. Inadequate dietary intake will lead to nutritional deficiency which further requires to depend on supplementation. FA is one of the vital nutrients which is mandatory for improving pregnancy outcomes. Previous studies have documented the pregnant women who know about supplementation of FA but not consuming during pregnancy will lead to complications in their neonates. This study aimed to inspect the knowledge and awareness about supplementation of FA in Saudi pregnant women and to compare present study results with other prior studies carried out in the Saudi population. METHODS: In this study, we have opted 406 Saudi pregnant women with the age range of 18-65 years of age through questionnaire-based research, was further assessed for FA supplementation usage during the pregnancy. Involved pregnant women have filled questionnaire and signed the consent form. RESULTS: The results of this study showed 38% of women were pregnant during 31-40 years of the age range. Almost 96% of pregnant women have awareness about FA supplementation during pregnancies, and 5.9% of women had histories for not using FA supplementation and had abnormal offspring. The current study questionnaire survey confirms 55.7% of pregnant women have information about FA supplementations. Nearly 89% of women have used FA in their previous pregnancies. CONCLUSION: Saudi pregnant women has good knowledge and awareness about the usage of FA supplementation during pregnancy. Limited efforts should be implemented national wide in all the hospitals and clinics to improve the awareness about maternal nutrition during pregnancy. Nutritional counselling should be conducted in remote areas to get a perception in Saudi Arabia.

Interaction with angiotensin-converting enzyme-encoding gene in female infertility: Insertion and deletion polymorphism studies.

Angiotensin-converting enzyme (ACE), a key enzyme in the renin- angiotensin-aldosterone system, converts angiotensin I to angiotensin II. Ethnic origin should be carefully considered in studies pertaining to ACE I/D genotype and disease etiology. This study was evaluated between the ACE gene I/D polymorphism and female infertility in the Saudi population. Out of a A total of 300 women who participated in this study genomic DNA samples from the 150 infertile and 150 fertile women's were isolated who has participated in this study. Genomic DNA was isolated using an Invitrogen kit according to the manufacturer's protocol, and D allele specific primers were used for amplification by polymerase chain reaction. Electrophoresis was carried out on a 2% agarose gel. The mean age and BMI of the cases and controls were similar (p > 0.05), and a significant association was noted between the family history and female infertility (p = 0.0001). The D allele (OR: 1.67 [95% CI: 1.18-2.35], p = 0.003), DD genotype (OR: 2.46 [95% CI: 1.20-5.02], p = 0.01) and dominant model (OR: 1.97 [95% CI: 1.00-3.88], p = 0.04) were significantly associated with female infertility or fertility. The results of this study show that the ACE polymorphism plays an important role in female infertility in the Saudi population.

Accurate diagnosis as a prognostic factor in intrauterine insemination treatment of infertile saudi patients.

BACKGROUND: The study meant to define the prognostic factors that help in prescribing intrauterine insemination (IUI) for infertility treatment which remains an area of continuous improvements. METHODS: The diagnostic indications of a cohort of IUI-treated patients and their corresponding pregnancy rates (PRs) were randomly and prospectively studied among Saudi cohort of 303 patients for a period of 20 months. The indications of IUI cases were statistically analyzed for those eligible patients over a period of twenty months (January 2010 till August 2011), and the PR that corresponded to each group was investigated as well. P-value less than 0.05 was considered significant. RESULTS: The highest PR, 18.87%, of the polycystic ovarian syndrome (PCOS)-only diagnosed patients, was significantly higher than the average PR of all other indications combined, 7.22%, (p = 0.011, compared to all other groups combined). The second highest PR, 14.0%, of the tubal factor (TF)-only indication, was double the PR average of all other indications combined, though it did not reach significance. However, PCOS and TF accompanied by other indications caused the PR to drop to 5.88% and 5.56%, respectively. However, a group of some hormonal-imbalance based indications had the least PR (0.0% to 2.70%). Those indications were elevated serum FSH, hyperprolactinemia, hypogonadotrophy, hypothyroidism and endometriosis. The rest of the indications had an average PR (8.33% to 11.11%). CONCLUSION: There is a reasonable chance of conception after IUI treatment for female factor infertility except in cases with sever hormonal imbalance. The PCOS cases having the best success chances.