Egyptian Journal of Medical Human Genetics最新文献

{"title":"Correction: Association between miR-138-5p, miR-132-3p, SIRT1, STAT3, and CD36 and atherogenic indices in blood mononuclear cells from patients with atherosclerosis","authors":"Samira Ehsani, Maysam Mard-Soltani, Fatemeh Ahmadpour, Gholamreza Shahsavari","doi":"10.1186/s43042-024-00473-x","DOIUrl":"https://doi.org/10.1186/s43042-024-00473-x","url":null,"abstract":"<p>Following publication of the original article [1], the authors informed us that the author Maysam Mard-Soltani is Co-first Author of this paper.</p><p>The original article has been corrected.</p><ol data-track-component=\"outbound reference\"><li data-counter=\"1.\"><p>Ehsani S et al (2023) Egypt J Med Hum Genet 24:84. https://doi.org/10.1186/s43042-023-00464-4</p><p>Article Google Scholar </p></li></ol><p>Download references<svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"><use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"></use></svg></p><span>Author notes</span><ol><li><p>Maysam Mard-Soltani is Co-first Author of this paper</p></li></ol><h3>Authors and Affiliations</h3><ol><li><p>Cardiovascular Research Center, Shahid Rahimi Hospital, Lorestan University of Medical Sciences, Khorramabad, Iran</p><p>Samira Ehsani &amp; Gholamreza Shahsavari</p></li><li><p>Department of Clinical Biochemistry, School of Medical Sciences, Dezful University of Medical Sciences, Dezful, Iran</p><p>Maysam Mard-Soltani</p></li><li><p>Nutritional Health Research Center, Lorestan University of Medical Sciences, Khorramabad, Iran</p><p>Fatemeh Ahmadpour</p></li><li><p>Department of Clinical Biochemistry, Lorestan University of Medical Sciences, Khorramabad, Iran</p><p>Samira Ehsani &amp; Gholamreza Shahsavari</p></li></ol><span>Authors</span><ol><li><span>Samira Ehsani</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Maysam Mard-Soltani</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Fatemeh Ahmadpour</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Gholamreza Shahsavari</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li></ol><h3>Corresponding author</h3><p>Correspondence to Gholamreza Shahsavari.</p><h3>Publisher's Note</h3><p>Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.</p><p><b>Open Access</b> This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permis","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139648380","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA methylation of ELOVL2 gene as an epigenetic marker of age among Egyptian population","authors":"Noha M. El-Shishtawy, Fatma M. El Marzouky, Hanan A. El-Hagrasy","doi":"10.1186/s43042-024-00477-7","DOIUrl":"https://doi.org/10.1186/s43042-024-00477-7","url":null,"abstract":"Cellular and molecular changes occur during aging, decreasing organ function. The aging process was measured by several biomarkers, including DNA methylation (DNAm), an epigenetic change regulating gene expression, which is highly accurate at predicting biological age. DNAm is heritable and therefore varies between different populations. To assess blood DNA methylation changes as epigenetic clocks in the male and female Egyptian population. Pyrosequencing was used to measure the methylation of nine CpG sites in blood samples from 100 healthy Egyptians (18–69 years) using a cross-sectional study. Two age predicted models based on the ELOVL2 gene were compared in three age categories and correlated in all age groups despite decreasing accuracy with increasing age. The mean absolute deviation (MAD) using the 1st and 2nd age predicted models for 18–40 years was 1.06 and 2.7, respectively; for 41–60 years, it was 4.4 and 3.8, respectively; and for > 60 years, it was 7.7 and 7.0, respectively. No significant differences in DNA methylation were found between the sexes. DNA methylation of the ELOVL2 gene can be used as an accurate biomarker for age estimation. Additionally, this method has the potential to be more accurate than traditional methods of age estimation.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139649415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the effects of curcumin on chronic obstructive pulmonary disease with a bio-computational approach","authors":"Mohammad Maboudian, Elham Amjad, Solmaz Asnaashari, Siavoush Dastmalchi, Babak Sokouti, Yousef Javadzadeh","doi":"10.1186/s43042-024-00486-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00486-6","url":null,"abstract":"According to the increasing trend of COPD, the timely diagnosis and treatment of the disease can reduce the high costs to the health systems. Therefore, by biological calculation methods, signaling pathways and genes involved in this disease can be obtained and used to design drugs and other treatment methods. By using biological calculations, we determined that curcumin can affect this disease and its genes and signaling pathways. Our goal in this study was to find the genes by which curcumin exerts its effect and can maintain the function of corticosteroids against oxidizing agents. By finding the genes, it is possible to find precisely the pathways by which curcumin works, which can be used to design other drugs that cause these pathways and minimize their side effects. This study considers healthy samples (with/without curcumin) and oxygen-free radicals (with/without curcumin). Finally, statistical algorithms extract meaningful genes as effective biomarkers to investigate curcumin's effects and signaling pathways in COPD. The results show that the genes finally obtained as the most critical genes confirmed by the literature are effective in COPD. Finally, curcumin was input in SwissTargetPrediction to identify potential protein receptors. We used LigPlot+ software to visualize the receptor–ligand binding result provided by iGEMDOCK. The data showed that the most significant genes in each group have been confirmed in other studies to be effective in this disease, and protein–protein interaction networks can be established between them to investigate their roles.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139578474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Emerging biomarkers and potential therapeutics of the BCL-2 protein family: the apoptotic and anti-apoptotic context","authors":"Md. Saddam, Shamrat Kumar Paul, Mohammad Ahsan Habib, Md. Abrar Fahim, Afsana Mimi, Saiful Islam, Bristi Paul, Md Mostofa Uddin Helal","doi":"10.1186/s43042-024-00485-7","DOIUrl":"https://doi.org/10.1186/s43042-024-00485-7","url":null,"abstract":"Apoptosis, also known as the programmed death of cells, is responsible for maintaining the homeostasis of tissues, and this function is carried out by caspases. The process of apoptosis is carried out via two distinct pathways: the extrinsic pathway, which is governed by death receptors, and the intrinsic pathway, also known as the mitochondrial pathway. The BCL-2 protein family encoded by the BCL-2 gene, located at the 18q21.33 chromosomal location, is in charge of regulating the intrinsic pathway, which is responsible for inducing cell death via the permeabilization of the mitochondrial membrane and the release of apoptosis-inducing components. The BCL-2 homology (BH1, BH2, BH3, BH4) domains of this family proteins are crucial for their functioning, and their common BH domains allow interactions between members of the same family and can also serve as indications of pro- or anti-apoptotic activity. A direct correlation may be shown between the overexpression of BCL-2 and the postponement of cell death. It has been determined that a change in the expression of BCL-2 is the root cause of a variety of malignancies, including lung, breast, melanoma, and chronic lymphocytic leukemia, multiple sclerosis, diabetes. In this review, we addressed the genetic information and structural homology of BCL-2 family members. Further, we elucidate the pro-apoptotic and anti-apoptotic roles of the family members. This review highlights the most recent developments in the BCL-2 protein family and presents evidence that targeting this family proteins may have a positive impact on the treatment of medical problems that are still underserved.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139578532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Altered expression of long non-coding RNAs NRON and SNHG11 in patients with ischemic stroke","authors":"Negin Gharbi, Hamideh Mahmoudinasab, Etrat Hooshmandi, Mousa Rahimi, Mahnaz Bayat, Najmeh Karimi, Seyedeh Shamim Hojati, Zoofa Zayani, Reza Tabrizi, Afshin Borhani-Haghighi","doi":"10.1186/s43042-024-00482-w","DOIUrl":"https://doi.org/10.1186/s43042-024-00482-w","url":null,"abstract":"Long non-coding RNAs, known as LncRNAs, have demonstrated a robust association with the pathogenesis of stroke. NRON and SNHG are among the most extensively studied lncRNAs in the context of atherosclerosis and inflammatory conditions. Given the absence of a current pathophysiological hypothesis regarding the potential relevance of the SNHG family and NRON lncRNAs in ischemic stroke (IS), this study aimed to investigate the altered expression of NRON and SNHG11 following atherosclerotic ischemic stroke (AIS) and their potential association with the risk of AIS. Blood samples were collected from 65 AIS patients (with large artery atherosclerosis or small vessel disease) and 65 controls. The expression levels of NRON and SNHG11 were assessed within the first 24 h following the stroke using quantitative real-time PCR. NRON expression exhibited a significant decrease in patients compared to controls, while no substantial difference was observed in the expression level of SNHG11 between the two groups. Furthermore, logistic regression analysis revealed a significant negative association between NRON expression and the risk of AIS (adjusted odds ratio = 0.70; 95% confidence interval 0.55–0.89, P = 0.004). These findings suggest that NRON may play a role in the pathogenesis of AIS and could potentially serve as a biomarker for the disease. To fully comprehend the mechanism underlying the association between NRON and AIS and to explore its potential therapeutic implications, further investigation is warranted.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139559827","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of common variant rs9934336 of SLC5A2 (SGLT2) gene with SARS-CoV-2 infection and mortality","authors":"Anamika Das, Gunanidhi Dhangadamajhi","doi":"10.1186/s43042-024-00481-x","DOIUrl":"https://doi.org/10.1186/s43042-024-00481-x","url":null,"abstract":"COVID-19 has its life-threatening complications more pronounced in people with underlying health conditions such as diabetes, cardiovascular disease and kidney disease. Inhibition of the sodiumglucose cotransporter 2 (SGLT2), which primarily increases urinary glucose excretion, is shown to be beneficial in patients with type 2 diabetes mellitus (T2D) and other comorbidities. SGLT2 is encoded by SLC5A2 gene, and of the several genetic variants, SNP rs9934336 is gaining importance for being associated with reduced HbA1c level and lower incidence of T2D. Since a complex bidirectional relationship exists between COVID-19 and hyperglycaemia, we conducted a worldwide association study to investigate the effect of rs9934336 on COVID-19 outcomes. Worldwide prevalence data of SLC5A2 SNP rs9934336 were obtained from relevant published articles and databases for genomic variants. COVID-19 data procured from the Worldometer website were used for conducting Spearman’s correlation analysis with minor allele frequency data of rs9934336. Significant positive correlation was observed between rs9934336 and COVID-19 incidence (p < 0.0001, r = 0.6225) as well as deaths (p < 0.0001, r = 0.5837). The present finding of significant association of SLC5A2 variant rs9934336 with COVID-19 risk has to be validated by case–control studies in diverse populations along with other variants regulating the expression and function of SGLT2.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139559523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"CD36 gene variant rs1761667(G/A) as a biomarker in obese type 2 diabetes mellitus cases","authors":"Ashwin Kumar Shukla, Amreen Shamsad, Atar Singh Kushwah, Shalini Singh, Kauser Usman, Monisha Banerjee","doi":"10.1186/s43042-024-00478-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00478-6","url":null,"abstract":"Several reports discussed a connection between CD36 genotypes associated with obesity, influencing the development of Type 2 diabetes mellitus (T2DM). Therefore, this study examines the prognostic value of CD36 polymorphism rs1761667 (G/A) in individuals with obese T2DM. The investigation also explores the correlation between this genetic variation and the clinical/biochemical parameters of the subjects. Blood samples of a total of 475 subjects from north India were collected from the outpatient unit (OPD), Department of Medicine, KGMU, Lucknow as per inclusion/exclusion criteria. Anthropometric details of study subjects were recorded and biochemical parameters were estimated in 250 T2DM cases, 75 obese T2DM cases, and 150 controls. The CD36 gene variant rs1761667 (G/A) was subject to genotypic analysis using the polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) method, utilizing specific primers and HhaI enzyme. All statistical analysis was done using SPSS (ver. 21.0) and Prism (5.01) software. Fasting plasma glucose (FPG), systolic blood pressure (SBP), post-prandial glucose (PPG) were significant in T2DM subjects. Lipid profile such as Total Cholesterol (TC), Low-Density Lipoprotein (LDL) and Very Low-Density Lipoprotein (VLDL) were also found significantly associated with obese T2DM cases. GA and AA genotypes of rs1761667 (G/A) showed significant associations in obese T2DM cases. The GA genotype demonstrated a considerable association (P < 0.001) with a 2.77-fold increased susceptibility to the high risk of T2DM. The AA genotype was found to be significantly associated (P = 0.008) with 2.94-fold higher risk of T2DM in obesity while 9.33 folds significant risk of developing obesity in T2DM cases. The risk of obesity in T2DM cases can be assessed by genotyping the CD36 genetic variant rs1761667 (G/A). However, raised FPG, PPG, TC, LDL, and VLDL showed poor prognosis in obese T2DM cases. CD36 gene variant can be proposed as a prognostic biomarker for risk prediction of T2DM and obesity, while anthro-biochemical risk factors as preventive biomarker. ","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139559748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In silico analysis of mutation spectrum of Ehlers–Danlos, osteogenesis imperfecta, and cutis laxa overlapping phenotypes in Iranian population","authors":"Teymoor Khosravi, Karim Naghipoor, Fatemeh Vaghefi, Ali Mohammad Falahati, Morteza Oladnabi","doi":"10.1186/s43042-024-00479-5","DOIUrl":"https://doi.org/10.1186/s43042-024-00479-5","url":null,"abstract":"Ehlers–Danlos syndrome (EDS), osteogenesis imperfecta (OI), and cutis laxa (CL) are three rare and heterogeneous connective tissue disorders. Patients with these syndromes have similar manifestations and unpredictable prognosis, making a misdiagnosis highly probable. Some of their subtypes are inherited in autosomal recessive patterns, so they are expected to be prevalent in populations like Iran, where consanguineous marriages are common. In the current work, a cohort of Iranian patients with overlapping phenotypes of the EDS/OI/CL and their mutation spectrum was defined. Based on this, in silico analysis was conducted to anticipate further probable genetic variations. Pathogenicity of EDS, OI, and CL variants in Iranian patients was evaluated using Web servers. A protein interaction network was created by String database and visualized using a Python-based library. The Iranome database was used to predict other genetic mutations in all reported genes of EDS, OI, and CL syndromes. In the EDS/OI/CL overlap phenotype, 32 variants in 18 genes have been involved. At least 59% of patients were from families with consanguineous marriages. Interaction analysis showed that COL1A1, COL1A2, CRTAP, LEPRE1, PLOD1, and ADAMTS2 have the most significant impact within the protein network of EDS/OI/CL overlap phenotype. Analyzing the Iranome database revealed 46 variants of EDS, OI, and CL genes potentially disease causing. The overlapping phenotype of EDS, OI, and CL syndromes requires genetic testing (e.g., whole-exome sequencing) to reveal respective variants, which helps to diagnose more accurately and manage the disease more effectively. Particularly in populations with high rates of consanguineous marriages, such as Iran, genetic screening plays a crucial role in premarital and prenatal counseling to prevent the transmission of these rare connective tissue disorders.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139559751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Osteogenesis imperfecta type XVII: expansion of the phenotype","authors":"Brooke M. Dunleavy, Alison J. Schildt, Caitlin Harrington, David A. Stevenson","doi":"10.1186/s43042-024-00475-9","DOIUrl":"https://doi.org/10.1186/s43042-024-00475-9","url":null,"abstract":"Biallelic variants in SPARC are extremely rare, and have been reported in only a few cases of autosomal recessive osteogenesis imperfecta (OI) type XVII. Here, we describe an individual with a SPARC homozygous missense variant (c.787G > A; p.Glu263Lys) and expand on the phenotype. The proband had a history of multiple fractures, osteopenia, severe thoracolumbar levoscoliosis, rib fusion, global hypotonia, conductive hearing loss, and was non-ambulatory. Several of his features were similar to previously described cases, such as early neuromuscular concerns, scoliosis, long bone and vertebral compression fractures, and delayed motor milestones, suggesting these are consistent across SPARC-related osteogenesis imperfecta (OI). However, the proband sustained fractures at a younger age with a more severe course compared to most previous reports. He also had bony fusion of several ribs and hearing loss, which have not been reported in SPARC-related OI. Overall, the proband supports the current phenotype of SPARC-related OI, but also expands the phenotypic variability.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139559781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of p53 codon 72 polymorphism with weight and metabolic diseases in a Central Indian population","authors":"Jessy Abraham, Deepak Mahapatra, Pratishtha Agrawal, Mary Jovita James","doi":"10.1186/s43042-024-00472-y","DOIUrl":"https://doi.org/10.1186/s43042-024-00472-y","url":null,"abstract":"Metabolic dysregulation leading to diabetes is a major public health concern in India. While evidence has pointed to a role for genetic factors, there is still limited knowledge regarding the specific variants that play a part in this process. Recent studies have implicated Tumor protein, p53, a well-known tumor suppressor, in maintaining metabolic homeostasis in our body. Polymorphisms that can disrupt this function are thought to increase susceptibility to diabetic and prediabetic phenotypes like Metabolic syndrome (MetS). A common polymorphism at codon 72 (rs1042522) is associated with obesity and other metabolic disorders. However, its role may vary depending on the specific population and disease context. Our study aimed to evaluate whether the polymorphism at codon 72 of p53 (rs1042522) is associated with MetS and Diabetes, in a Central Indian population. A total of 66 individuals and 63 healthy controls, identified based on the National Cholesterol Education Program (NCEP)/Adult Treatment Panel-III (ATP-III) 2001 guidelines, were enrolled in the study. The carriers expressing mutant allele “G” for arginine at codon 72 had higher weight than those having wild-type allele “C” which codes for proline (p = 0.038). The majority of the subjects were heterozygous for p53 codon 72 polymorphism though the association was not statistically significant for either MetS or diabetes. Our findings suggest that p53 codon 72 (rs1042522) varaints may trigger metabolic dysfunction by impacting weight. The polymorphism appears to confer a heterozygous advantage, as individuals with a heterozygous genotype exhibited the highest susceptibility to metabolic disease. Although further studies are required, our results for the first time indicate that the p53 codon 72 (rs1042522) polymorphism could be considered a genetic marker to predict the increased susceptibility to diabetic and prediabetic phenotypes among Central Indian population.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139471132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}