Association of FTO gene variant rs9939609 with polycystic ovary syndrome from Gujarat, India

BMC Medical Genomics, Год журнала: 2023, Номер 16(1)

Опубликована: Сен. 14, 2023

Polycystic ovary syndrome is a multifactorial endocrine disorder impacting women of reproductive age. Variations within the FTO gene have been linked to both obesity and type 2 diabetes mellitus. Given that PCOS frequently associated with compromised glucose tolerance, we investigated prevalence rs9939609 variant among diagnosed control group. Our aim uncover potential correlations between this genetic variant, metabolic attributes, markers Gujarat province India.We enrolled total 114 participants, (62 individuals 52 healthy controls). DNA extraction from venous blood was conducted for all participants. The polymorphism through tetra-primer amplification refractory mutation system-polymerase chain reaction. Furthermore, performed biochemical assessments quantify levels estradiol, luteinizing hormone (LH), follicle-stimulating (FSH), thyroid-stimulating (TSH), testosterone, prolactin (PRL), Dehydroepiandrosterone sulfate (DHEAS). Statistical analyses were carried out utilizing SPSS version 21 (IBM, USA).The present study did not reveal any noteworthy association cases controls. frequencies genotypes alleles cohorts displayed no statistically significant differences (p = 0.25, p 0.68, 0.78, respectively). dominant model indicated modest risk (OR:1.13, 95%CI: 0.55 2.38) toward development. There noticeable statistical difference observed in DHEAS, BMI case groups < 0.002, 0.0002, 0.0008). However, variations clinical variables group.This first investigate Gujarati population. findings indicate directly onset PCOS. it appears exert an influence on factors such as insulin resistance. Notably, our results suggest resistance more patients who are obese, compared those non-obese patients.

Язык: Английский

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A Cross-Sectional Study of Alzheimer-Related Proteins in Women with Polycystic Ovary Syndrome

International Journal of Molecular Sciences, Год журнала: 2024, Номер 25(2), С. 1158 - 1158

Опубликована: Янв. 18, 2024

Polycystic ovary syndrome (PCOS) is the most common endocrine condition in women of reproductive age, and several risk factors found PCOS are associated with an increased Alzheimer's disease (AD). Proteins AD have been reported to include fibronectin (FN) fragments 3 4 (FN1.3 FN1.4, respectively) ApoE. We hypothesized that Alzheimer-related proteins would be dysregulated because insulin resistance obesity. In this comparative cross-sectional analysis, aptamer-based SomaScan proteomic analysis for detection plasma was undertaken a biobank 143 97 control women. Amyloid precursor protein (APP) (p < 0.05) amyloid P-component (APCS) 0.001) were elevated PCOS, while alpha-synuclein (SNCA) reduced PCOS. Associations protective heat shock (HSPs) showed SNCA positively correlated HSP90 0.0001) HSP60 both Correlations markers inflammation APCS interleukin 6 (IL6) = 0.04), Apolipoprotein (Apo) E3 TNF-alpha 0.02). FN, FN1.3, FN1.4 ApoE all significantly 0.05). An AD-associated pattern addition APP SNCA, which same as type 2 diabetes (T2D) with, additionally, elevation APCS. With biomarker being very similar T2D, where there association between suggests larger prospective cohort studies needed determine if causal AD.

Язык: Английский

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Elevated Anti-Müllerian Hormone as a Prognostic Factor for Poor Outcomes of In Vitro Fertilization in Women with Polycystic Ovary Syndrome

Biomedicines, Год журнала: 2023, Номер 11(12), С. 3150 - 3150

Опубликована: Ноя. 27, 2023

Women with polycystic ovary syndrome (PCOS) tend to have elevated anti-Müllerian hormone (AMH) levels, which appear correlate disease severity and pregnancy outcomes. This was a retrospective observational study designed assess the relationship between circulating AMH levels in vitro fertilization (IVF) The involved 150 women PCOS who underwent IVF treatments. women’s cycles were allocated into three subgroups according levels: ‘low’ (AMH < 3.7 ng/mL; n = 49), ‘middle’ 3.7–7.4 94), ‘high’ > 7.4 56). All pregnancy-related outcomes (positive beta human chorionic gonadotropin (βHCG), clinical rate, live birth cumulative rate) greater when compared those or (p 0.05). below ng/mL found be associated lower oocyte immaturity rate better outcomes, although baseline not shown any significant predictive power for multivariable logistic regression analysis after adjusting possible confounders nor ROC analyses. In summary, current lays groundwork validate high as poor prognostic factor PCOS.

Язык: Английский

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Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next generation sequencing data analysis

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Май 8, 2024

Abstract Endometriosis is a common cause of endometrial-type mucosa outside the uterine cavity with symptoms such as painful periods, chronic pelvic pain, pain intercourse and infertility. However, early diagnosis endometriosis still restricted. The purpose this investigation to identify validate key biomarkers endometriosis. Next generation sequencing (NGS) dataset GSE243039 was obtained from Gene Expression Omnibus (GEO) database, differentially expressed genes (DEGs) between normal control samples were identified. After screening DEGs, gene ontology (GO) REACTOME pathway enrichment analyses performed. Furthermore, protein-protein interaction (PPI) network constructed modules analysed using Human Integrated Protein-Protein Interaction rEference (HIPIE) database Cytoscape software, hub Subsequantely, miRNAs genes, TFss miRNet NetworkAnalyst tool, possible TFs predicted. Finally, receiver operating characteristic curve (ROC) analysis used genes. A total 958 including 479 up regulated down screened samples. GO DEGs showed that they mainly involved in multicellular organismal process, developmental signaling by GPCR muscle contraction. Further PPI identified 10 VCAM1, SNCA, PRKCB, ADRB2, FOXQ1, MDFI, ACTBL2, PRKD1, DAPK1 ACTC1. Possible target miRNAs, hsa-mir-3143 hsa-mir-2110, TFs, TCF3 CLOCK, predicted constructing miRNA-hub regulatory TF-hub network. This bioinformatics techniques explore potential novel biomarkers. These might provide new ideas methods for diagnosis, treatment, monitoring

Язык: Английский

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Association of genetic predisposition studies in CYP1A1 polymorphism studies in acute myeloid leukemia

Saudi Journal of Biological Sciences, Год журнала: 2023, Номер 31(3), С. 103917 - 103917

Опубликована: Дек. 23, 2023

Cytochrome P450 Family 1 Subfamily A Member (CYP1A1) gene is one of the sub-members CYP450 family member and it encodes with families drug metabolizing enzyme along cancers leukemias. Among leukemias, AML considered to be important leukemia which attack older adults. The aim this study explore role A4889G polymorphism in CYP1A1 acute myeloid (AML) Saudi population. This was designed as an experimental case-control 100 cases controls were selected. vivo carried out using genomic DNA extraction, polymerase chain reaction agarose gel electrophoresis then BsrDI restriction digest PCR products. In study, 200 subjects digested based on appearance bands, genotypes categorized. attained data used calculate clinical details well genotype analysis. results confirmed AG (OR=3.23, CI=1.60-6.55, p=0.0008), AG+GG (OR=3.47, CI=1.76-6.86, p=0.0002) GG+AA (OR=12.47, CI=6.18-15.17, p<0.0001) G vs (OR=3.15, CI=1.71-5.81, p=0.0001) associated cases. conclusion, we confirm that

Язык: Английский

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Screening and identification of key biomarkers associated with endometriosis using bioinformatics and next-generation sequencing data analysis

Egyptian Journal of Medical Human Genetics, Год журнала: 2024, Номер 25(1)

Опубликована: Окт. 12, 2024

Abstract Background Endometriosis is a common cause of endometrial-type mucosa outside the uterine cavity with symptoms such as painful periods, chronic pelvic pain, pain intercourse and infertility. However, early diagnosis endometriosis still restricted. The purpose this investigation to identify validate key biomarkers endometriosis. Methods Next-generation sequencing dataset GSE243039 was obtained from Gene Expression Omnibus database, differentially expressed genes (DEGs) between normal control samples were identified. After screening DEGs, gene ontology (GO) REACTOME pathway enrichment analyses performed. Furthermore, protein–protein interaction (PPI) network constructed modules analyzed using Human Integrated Protein–Protein Interaction rEference database Cytoscape software, hub Subsequently, miRNAs genes, TFs miRNet NetworkAnalyst tool, possible predicted. Finally, receiver operating characteristic curve analysis used genes. Results A total 958 including 479 upregulated downregulated screened samples. GO DEGs showed that they mainly involved in multicellular organismal process, developmental signaling by GPCR muscle contraction. Further PPI identified 10 vcam1, snca, prkcb, adrb2, foxq1, mdfi, actbl2, prkd1, dapk1 actc1. Possible target miRNAs, hsa-mir-3143 hsa-mir-2110, TFs, tcf3 (transcription factor 3) clock (clock circadian regulator), predicted constructing miRNA-hub regulatory TF-hub network. Conclusions This bioinformatics techniques explore potential novel biomarkers. These might provide new ideas methods for diagnosis, treatment monitoring

Язык: Английский

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Association of serine racemase gene polymorphism with type 2 diabetes mellitus

International Journal of ADVANCED AND APPLIED SCIENCES, Год журнала: 2024, Номер 11(11), С. 112 - 117

Опубликована: Ноя. 1, 2024

Type 2 diabetes mellitus (T2DM) is a chronic metabolic disorder characterized by insulin resistance and β-cell dysfunction, with significant global impact. Genome-wide association studies (GWAS) have identified several genetic polymorphisms linked to T2DM, including the rs391300 polymorphism in SRR gene. This study aimed evaluate between T2DM Saudi population. A total of 160 participants, comprising 80 patients healthy controls, were genotyped using quantitative PCR VIC FAM probes. The results revealed age, body mass index (BMI), glucose levels, cholesterol levels. Genotype allele frequency analysis demonstrated that was higher risk (GA vs. AA: OR = 4.75, 95% CI: 1.52–14.94, p 0.04; G: 4.33, 1.42–13.27, 0.005). Additionally, ANOVA indicated weight BMI (p 0.01). provides evidence positive gene

Язык: Английский

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Unraveling the Genetic Associations of DENND1A (rs9696009) and ERBB4 (rs2178575) with Infertile Polycystic Ovary Syndrome Females in Pakistan

Biochemical Genetics, Год журнала: 2023, Номер 62(3), С. 2148 - 2165

Опубликована: Окт. 23, 2023

Язык: Английский

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