Journal of King Saud University - Science最新文献

{"title":"Interbreed differences in iron concentration in cattle organs and tissues","authors":"Kirill Narozhnykh,&nbsp;Valeriy Petukhov,&nbsp;Tatiana Konovalova,&nbsp;Olga Sebezhko,&nbsp;Olga Korotkevich","doi":"10.1016/j.jksus.2024.103581","DOIUrl":"10.1016/j.jksus.2024.103581","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to evaluate the differences in iron accumulation in organs and tissues of cattle bred in ecologically robust zones of Western Siberia.</div></div><div><h3>Methods</h3><div>The authors presented 486 samples of the muscle, hair, heart, liver, kidneys, and spleen from three breeds of bulls. The authors examined 84 Black Pied, Hereford, and Holstein bulls aged 16–18 months. The Black Pied bulls were bred in the Ubinsky district of the Novosibirsk region, Russia, the Hereford bulls were bred in the Maslyaninsky district of the Novosibirsk region, and the Holstein bulls were bred in the Promyshlensky district of the Kemerovo region, Russia. The authors studied the chemical composition of organs and muscle tissue using atomic absorption spectrometry with flame and electrothermal atomization using an MGA-1000 spectrometer.</div></div><div><h3>Results</h3><div>The median iron concentrations in the muscle, hair, heart, liver, kidneys, and spleen were 16.5–49.1, 22.3–130, 42–70, 56.5–68.3, 39.3–52.2, and 252.2–472 mg/kg, respectively. The authors recorded the highest iron concentration in the spleen, where its concentration was significantly higher than in other organs, regardless of the breed.</div></div><div><h3>Conclusion</h3><div>The breed significantly affected the iron content in muscle tissue, heart, kidneys, hair, and spleen. The iron concentrations in muscle tissue, heart, and spleen were higher in Black Pied cattle, and iron concentrations in hair were lower in Holstein and Hereford cattle. Multivariate statistical methods showed high phenotypic similarity in iron accumulation in organs and tissues between Hereford and Holstein cattle. Animals’ breed and age should be considered when developing regional standards for iron content.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103581"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143152547","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nano-herbal combination targets apoptosis in oral squamous cell carcinoma","authors":"Cheryl Grace Pratiwi Rumahorbo,&nbsp;Syafruddin Ilyas","doi":"10.1016/j.jksus.2024.103548","DOIUrl":"10.1016/j.jksus.2024.103548","url":null,"abstract":"<div><h3>Background</h3><div>This study evaluates the synergistic effects of the nano-herbal combination of <em>Bischofia javanica</em> leaves and <em>Phaleria macrocarpa</em> fruits on oral squamous cell carcinoma (OSCC), a metastatic keratinocyte malignancy.</div></div><div><h3>Materials and Methods</h3><div>Thirty-six male Wistar rats were divided into six groups: a negative control group (K0), an OSCC-induced control group (K1), and four treatment groups (P1-P4), which received oral treatments for four weeks. Blood samples were analyzed for superoxide dismutase (SOD), malondialdehyde (MDA), and vascular endothelial growth factor (VEGF) levels, while immunohistochemistry was used to assess the expression of heat shock protein 70 (HSP-70), caspase-3, caspase-8, caspase-10, and MDA.</div></div><div><h3>Results</h3><div>Nano-herbal treatment significantly reduced MDA levels, particularly in groups P3 and P4, with reductions comparable to those seen in the Vitamin C treatment group (p &lt; 0.05). SOD levels were highest in group P3 (p &lt; 0.05), similar to the negative control group (K0), while VEGF levels were significantly elevated in the positive control group (K1) (p &lt; 0.05). Group P3 exhibited the highest expression of HSP-70 (p &lt; 0.05). Caspase-3 expression was significantly higher in P3 compared to K1 (p = 0.0007), while caspase-8 and caspase-10 expressions were also significantly elevated in groups P2, P3, and P4 (p &lt; 0.05). Group P3 showed the most pronounced effects in promoting apoptosis, with caspase-3 and caspase-8 levels markedly higher compared to K1.</div></div><div><h3>Conclusion</h3><div>The combined nano-herbal formulations of <em>Bischofia javanica</em> leaves and <em>Phaleria macrocarpa</em> fruits effectively mitigates oxidative stress, induces apoptosis, and holds potential as a therapeutic approach for managing oral squamous cell carcinoma (OSCC).</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103548"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143152553","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advancing Parkinson’s disease biopathology and drug discovery by dual cellular modelling","authors":"PinFen Chua ,&nbsp;Nurr Maria Ulfa Seruji ,&nbsp;Mas Atikah Lizazman ,&nbsp;Vivien Yi Mian Jong ,&nbsp;William K. Lim","doi":"10.1016/j.jksus.2024.103559","DOIUrl":"10.1016/j.jksus.2024.103559","url":null,"abstract":"<div><div>Parkinson’s disease (PD) is the fastest growing neurological disorder in the world. Its pathologic hallmarks are dopaminergic neuronal loss in the substantia nigra and alpha-synuclein accumulation in neurons. However, the patho-biologic mechanisms are largely unknown. Current drugs cannot slow or halt disease progression while clinical trials are mostly unsuccessful. Hence better cellular models are needed for pathological and drug discovery studies prior to <em>in vivo</em> validation. PC12 cells are commonly used for neurotoxicity studies but the Neuroscreen-1 (NS-1) variant has a faster doubling time and higher basal rate of neurite growth. We developed a NS-1 PD model with the neurotoxin 6-hydroxydopamine (6-OHDA) and MTT cell viability assay as readout. We optimized 6-OHDA concentration to a uniquely low 10 µM for a closer approximation to <em>in vivo</em> neurotoxicity. NS-1 cells treated with 6-OHDA displayed hallmark dopamine loss and apoptotic cell death. We used the model to screen a series of xanthones − polyphenolic compounds found in many medicinal plants. We report a novel activity of thwaitesixanthone in the PD model. The model was validated using alpha-mangostin (a neuroprotectant in <em>in vivo</em> and <em>in vitro</em> PD models) which was the most active in restoring cell viability. Alpha-synuclein is now a therapeutic target for stopping PD progression. Human HEK293 cells have neuronal attributes and reported to express pathologic alpha-synuclein. We hypothesized the transfection-efficient HEK293T cells is an optimal cell line for monitoring human alpha-synuclein levels. We make the first report that 6-OHDA treatment increased pathologic alpha-synuclein expression in HEK293T cells. This alpha-synucleinopathy model was validated using alpha-mangostin which attenuated 6-OHDA-induced pathologic alpha-synuclein to baseline levels. Thus we developed a novel NS-1 PD model more representative of <em>in vivo</em> neurotoxicity complemented by a human HEK293T cell-based alpha-synucleinopathy model for tracking pathologic alpha-synuclein levels. We present these dual models for producing <em>in vitro</em> findings with increased likelihood of clinical translation.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103559"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143152555","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Overexpression, purification and characterization of a heat-stable peroxisomal glutathione reductase from Oryza sativa involved in multifactorial abiotic stress tolerance","authors":"Pamela Chanda Roy ,&nbsp;Deepak Kumar Ojha ,&nbsp;Welka Sahu ,&nbsp;Mohammad Khalid Al-Sadoon ,&nbsp;K. Sony Reddy ,&nbsp;Gopal Chowdhary","doi":"10.1016/j.jksus.2024.103575","DOIUrl":"10.1016/j.jksus.2024.103575","url":null,"abstract":"<div><div>Abiotic stress is the major bottleneck in obtaining the full potential of a standing crop. Various strategies have been investigated to impart abiotic stress tolerance. In the agricultural field, the stress conditions do not act in isolation rather they act synergistically in combinations against the wellbeing of the crop. The combined impact of abiotic stress conditions has been referred to as stress matrix or stress combination. Here, we have proposed a probable candidate that could be instrumental in imparting tolerance against stress matrix or stress combination. The investigation was made on a peroxisome localized glutathione reductase (GR) enzyme from the economically significant crop <em>Oryza sativa</em>. The protein was expressed in the <em>E</em>. <em>coli</em> system, purified and characterized. The enzyme was found to be active even at an elevated temperature of 55℃, demonstrating its abiotic stress tolerance properties. Further, the gene expression studies showed it to be upregulated under salinity, dehydration, low and high temperature. The expression was also investigated under various stress combinations and it was observed that the level of GR mRNA was found to be higher in the case of combined stress treatment as compared to individual stress conditions suggesting an additive effect phenomenon. The results obtained here put this peroxisomal GR in the spotlight for imparting abiotic stress combinations studies.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103575"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic background of Diego blood group in Saudi Arabia","authors":"Amr J. Halawani ,&nbsp;Saif Elden B. Abdalla ,&nbsp;Abdullah Meshi ,&nbsp;Ghalia Shamlan ,&nbsp;Mahmoud M. Habibullah","doi":"10.1016/j.jksus.2024.103571","DOIUrl":"10.1016/j.jksus.2024.103571","url":null,"abstract":"<div><h3>Background</h3><div>Multiply-transfused patients are prevalent in Jazan region, Saudi Arabia. Alloimmunization may occur in case of red cell incompatibility. Therefore, extensive serotyping for other blood groups is essential. Two alleles of the Diego (DI) blood group system, <em>DI*A</em> and <em>DI*B</em> encode the main DI antigens Di(a + b–) and Di(a–b+), respectively. Anti-Di^a and anti-Di^b can be involved in transfusion reactions and pregnancy issues. This study aimed to investigate the allele and genotype frequencies of the DI blood groups in Jazan Province of Saudi Arabia.</div></div><div><h3>Methods</h3><div>One-hundred-fifty samples were collected from Saudi blood donors in Jazan Province. DNA was extracted and sequence-specific primers were designed to amplify the SNV region (rs2285644), which distinguishes the <em>DI*A</em> allele from the <em>DI*B</em> allele. The resulting PCR amplicons were sequenced.</div></div><div><h3>Results</h3><div>The frequency of <em>DI*B</em> alleles was 100 %, while the <em>DI*A</em> allele was not observed. Therefore, the only detected genotype was <em>DI*B/DI*B</em> at 100 %.</div></div><div><h3>Conclusions</h3><div>This study reported the allele and genotype frequencies of the DI blood group system in Saudi Arabia. This study may help establish a national database for blood groups in Jazan region. Moreover, it may help to reduce the risk of alloimmunization by providing matching blood units.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103571"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging pathways in electrical, magnetic and thermoelectric performance of different concentration of iron doped cobalt oxide nanoparticles","authors":"Numan Abbas ,&nbsp;Jian-Min Zhang ,&nbsp;Abdul Rehman Gill ,&nbsp;Muhammad Zeeshan Asad ,&nbsp;Arslan Mahmood ,&nbsp;Muhammad Ikram ,&nbsp;Sohail Ahmad ,&nbsp;Muhammad Atif ,&nbsp;Muhammad Jehanzaib Aslam","doi":"10.1016/j.jksus.2024.103565","DOIUrl":"10.1016/j.jksus.2024.103565","url":null,"abstract":"<div><div>Current study was reported that to tune the magnetic, electrical and thermoelectric properties of Co₃O₄NPs by using different concentration of iron (0, 3 and 5 wt%). The Fe doped Co₃O₄ NPs were synthesized by using co-precipitation method. The XRD was use to identify the cubic spinel structure and crystallite size range from 15 to 24 nm. The porous like surface morphology changed into tiny spherical grain with 5 % Fe doped Co₃O₄ NPs was observed via SEM micrographs. After that the presence of CoO, FeO, CO, CO₂ and OH was identify with the help of FTIR analysis. In addition, VSM analysis shows that magnetization increase (20.918 E-3 to 73.843E-3 emu), corecivity, retentivity and ferromagnetic behavior decreased by increasing Fe concentration in Co₃O₄ NPs. Further, two probe method was used to examine the relation between resistivity and conductivity. It was observed that the resistivity decreases (9 <span><math><mo>×</mo></math></span> 10³ to 3 <span><math><mo>×</mo></math></span> 10³ Ω m) and conductivity increased (1.1<span><math><mo>×</mo></math></span> 10^-⁴ to 3.3<span><math><mo>×</mo></math></span> 10^-⁴ Ω^-1m⁻¹) upto significant level. Finally, thermoelectric property was identified to calculate seebeck coefficient and power factor. Thermoelectric result shows that due to increase the distance between source and substrate then seebeck coefficient and power factor increased. The seebeck coefficient values indicated that due to decrease the resistivity the carrier concentration increase upto significant value at optimum temperature. The synthesized nano-material will be suitable for spintronic devices, supercapacitor for electrode material and temperature sensors.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103565"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Feature importance and model performance for prediabetes prediction: A comparative study","authors":"Saeed Awad M Alqahtani ,&nbsp;Hussah M Alobaid ,&nbsp;Jamilah Alshammari ,&nbsp;Safa A Alqarzae ,&nbsp;Sheka Yagub Aloyouni ,&nbsp;Ahood A. Al-Eidan ,&nbsp;Salwa Alhamad ,&nbsp;Abeer Almiman ,&nbsp;Fadwa M Alkhulaifi ,&nbsp;Suliman Alomar","doi":"10.1016/j.jksus.2024.103583","DOIUrl":"10.1016/j.jksus.2024.103583","url":null,"abstract":"<div><h3>Objectives</h3><div>Prediabetes is a significant health condition that elevates the risk of developing type 2 diabetes and other associated complications. This study aims to (1) explore the potential of machine learning models to improve the prediction of prediabetes, (2) compare the performance of various machine learning models with traditional regression methods, and (3) identify the most influential demographic, socioeconomic, and health-related factors associated with prediabetes.</div></div><div><h3>Methods</h3><div>This study utilized data from the 2021 Behavioral Risk Factor Surveillance System (BRFSS) and employed comprehensive data preprocessing techniques. Logistic regression analysis was conducted to assess correlations between features and prediabetes risk. Feature importance was quantified using Adjusted Mutual Information values. Multiple machine learning models, including Random Forest, K Nearest Neighbors (KNN), Extreme Gradient Boosting (XGBoost), Neural Network, and Logistic Regression, were used for prediction. The best model was selected and validated through cross-validation to ensure robustness.</div></div><div><h3>Results</h3><div>Significant associations were observed between prediabetes and key predictors such as cholesterol levels, BMI categories, hypertension status, age groups, and income categories. Among the models tested, Random Forest demonstrated the highest accuracy and robustness, outperforming traditional regression models.</div></div><div><h3>Conclusions</h3><div>This study highlights the potential of machine learning to enhance prediabetes prediction and underscores the importance of identifying high-risk individuals for early intervention. The findings contribute to population health strategies by integrating advanced analytical methods with public health data.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103583"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New record of Phylloteles hyalipennis (Baranov, 1934) (Diptera: Miltogramminae) from North India, with morphology, life cycle and SEM study of immature stages","authors":"Rohit Kumar ,&nbsp;Althaf Hussain Shaik ,&nbsp;Madhu Bala","doi":"10.1016/j.jksus.2024.103568","DOIUrl":"10.1016/j.jksus.2024.103568","url":null,"abstract":"<div><h3>Objectives</h3><div>First time from North India, the immature stages of a species of the genus <em>Phylloteles</em> Loew, 1844, are described, with a redescription of the adults. The research explored the morphological characteristics and distribution of <em>Phylloteles hyalipennis</em> (Baranov, 1934) from India. This study aims to enhance species identification and potentially revise classification of this scientifically important group.</div></div><div><h3>Methods</h3><div>Gravid females of this species were collected from the decomposing chicken meat from the Union territory Jammu and Kashmir (India), and larvae were reared under optimal conditions to get a pure colony. The immature stages were examined under light as well as scanning electron microscope (SEM).</div></div><div><h3>Results</h3><div>The results included descriptions of adult morphology, systematic classification, and detailed analysis of immature stages. The Pseudocephalon, maxillary palpus, anterior and posterior spiracles, and variations of thoracic and abdominal segments, anal region, and details of cephaloskeleton of immatures were utilized as key characters for species identification in case of immature stages and presented along with illustrations.</div></div><div><h3>Conclusion</h3><div>The study provides valuable insights into the poorly understood larval morphology of Miltogramminae, specifically in Oriental taxa. This information can stipulate new characteristics for species identification in case of immature stages and enhances systematics of Indian Sarcophagidae.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103568"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of antimicrobial, antioxidant and reactive oxygen species and caspases 3/9 mediated Anticancerous activity of β-Glucan particles derived from Pleurotus ostreatus against cervical cancer cells HeLa","authors":"Sara A. Seifeldin ,&nbsp;Tarun Kumar Upadhyay ,&nbsp;Rashmi Trivedi ,&nbsp;Raja Rezgui ,&nbsp;Amir Saeed","doi":"10.1016/j.jksus.2024.103577","DOIUrl":"10.1016/j.jksus.2024.103577","url":null,"abstract":"<div><div>Cancer has been the foremost global cause of death, resulting in over 20 million incidences and 10 million fatalities as per WHO GLOBOCAN 2022 statistics. Cervical cancer ranks 8th among all cancer types, leading an earnest global health burden, and demands innovative therapeutic strategies. While conventional treatments often face limitations, natural bioactive compounds offer potential alternatives. This study delved into the anticancer properties of β-Glucan particles, a polysaccharide derived from the <em>Pleurotus ostreatus</em> (<em>P. ostreatus</em>) mushroom. <em>P. ostreatus</em> has recently garnered attention for its myriad health benefits. It was reported that Polysaccharide fraction derived from Oyster mushroom stimulated Immunomodulatory effect against cancer cells which lead to further explore active constituents. One of its fiber constituents, β-Glucan, has been documented to have anti-cancer, anti-inflammatory, antioxidant, immunomodulatory, immunogenic, and prebiotic activities without harm. Given its restricted exploration and enigmatic mechanisms, it presents an excellent opportunity for a thorough investigation of its characteristics. Our findings unravel that β-glucan exhibits significant cytotoxic effects against HeLa cervical cancer cells. Mechanistically, β-glucan induces apoptosis through the generation of oxidative stress, as evidenced by increased reactive oxygen species (ROS) levels and morphological changes in the nucleus. Moreover, the activation of caspase 3/9, key apoptotic markers, further supports the pro-apoptotic effects of β-glucan. β-glucan exhibits notable antimicrobial activity, underscoring its diverse therapeutic capabilities. The collective findings of this research indicate that <em>P. ostreatus</em>-derived β-Glucan particles presents a compelling opportunity for the advancement of innovative, natural-based anticancer treatments.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103577"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143153536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of FokI, Tru91, and ApaI vitamin D receptor gene polymorphisms with the development of polycystic ovarian syndrome: A molecular genetic study","authors":"Walaa Talal Abdul-Lateef ,&nbsp;Mushtak T.S. Al-Ouqaili ,&nbsp;Rafal M. Murshid","doi":"10.1016/j.jksus.2024.103563","DOIUrl":"10.1016/j.jksus.2024.103563","url":null,"abstract":"<div><h3>Background and objective</h3><div><strong>P</strong>olycystic ovarian syndrome (PCOS) is an endocrine disorder in women of reproductive age. The study aims to identify the impact of vitamin D receptor encoding genes (FokI, Tru91, and ApaI) on the contribution and development of PCOS, in addition to their effect on AMH levels.</div></div><div><h3>Methodology</h3><div>The study included 80 patients and 25 healthy individuals. The concentrations of free testosterone, vitamin D, and AMH were determined. PCR-RFLP was applied to identify vitamin D receptors in the FokI, Tru91, and ApaI SNPs. Sanger sequencing was performed on each of these patients.</div></div><div><h3>Results</h3><div>Increase free testosterone and AMH levels 48 (60 %) and 65 (81.3 %), respectively and reduced vitamin D levels (56 (70 % were predictors of PCOS. Regarding FOKI polymorphisms, the frequency of the heterozygous genotype (CT) was significantly greater (OR = 2.96, P &lt; 0.05) in the PCOS group than in the healthy group. There was a three-fold increase in the prevalence of the ApaI genotype in PCOS patients versus controls (the odds ratio for the CC homozygous genotype was 3.43 with P &gt; 0.05). In Tru91 polymorphism, the AA and GG were associated with risk factors for PCOS susceptibility (OR = 2.78, P &lt; 0.05) (OR = 3.04, P &gt; 0.05), whilst AG was a protective factor (OR = 0.24, P &lt; 0.05).</div></div><div><h3>Conclusions</h3><div>A relationship between high levels of free testosterone, AMH levels, and vitamin D deficiency was observed. Furthermore, all genetic models’ VDR FokI, ApaI, and VDR Tru91 polymorphisms are linked to PCOS susceptibility.</div></div>","PeriodicalId":16205,"journal":{"name":"Journal of King Saud University - Science","volume":"36 11","pages":"Article 103563"},"PeriodicalIF":3.7,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143152550","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"综合性期刊","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}