Meta Gene最新文献

{"title":"Tri-occurrence of attenuated familial adenomatous polyposis, Lynch syndrome, and hereditary breast and ovarian cancer: A case report with implications for treatment and surveillance","authors":"Jamie L. Fisher,&nbsp;Amy J. Hale,&nbsp;Russell Gollard","doi":"10.1016/j.mgene.2021.101001","DOIUrl":"10.1016/j.mgene.2021.101001","url":null,"abstract":"<div><p><span>The combination of three different germline pathogenic variants: </span><span><em>APC (NM_000038.5), </em><em>PMS2</em><span><em> (NM_000535.5), </em><em>PALB2</em></span></span><span> (NM_024675.3) in one individual has not been previously reported. In this brief report, we report an individual with the aforementioned autosomal dominant<span> array of pathogenic variants. This individual was afflicted with stage IV colon cancer at age 31. The interaction of three separate germline pathogenic variants in determining cancer risk is not known; with the advent of widespread genetic panel testing, other multi-mutated genomes will surely be found and will have implications for treatment and surveillance.</span></span></p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 101001"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44149774","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":"Vascular endothelial growth factor A (VEGFA) promoter rs2010963 polymorphism and cancer risk: An updated meta-analysis and trial sequential analysis","authors":"Md. Abdul Aziz ,&nbsp;Mohammad Sarowar Uddin ,&nbsp;Md. Shalahuddin Millat ,&nbsp;Mohammad Safiqul Islam","doi":"10.1016/j.mgene.2022.101017","DOIUrl":"10.1016/j.mgene.2022.101017","url":null,"abstract":"<div><h3>Objectives</h3><p>Previous observational studies evaluating the relationship of <span><em>VEGFA</em></span> rs2010963 polymorphism with cancer risk reported inconsistent outcomes. We conducted this meta-analysis to confirm a firm correlation of rs2010963 with overall cancers.</p></div><div><h3>Materials and methods</h3><p>A total of 70 eligible studies, including 25,245 cancer patients and 28,219 controls, were retrieved from online databases and included studies that analyzed odds ratio (OR) with 95% confidence intervals.</p></div><div><h3>Results</h3><p>In the overall cancers and population, no association between <em>VEGFA</em> rs2010963 and cancer was found. We observed a statistically significant association (<em>p</em><span> &lt; 0.05) of rs2010963 with increased cancer risk in the African population (codominant 1: OR = 1.44, dominant model: OR = 1.41, allele model: OR = 1.24). Stratification by cancer types showed significant association with urogenital cancer risk under codominant 1 (OR = 1.22), codominant 2 (OR = 1.55), codominant 3 (OR = 1.24), dominant (OR = 1.29), recessive (OR = 1.36), and allele model (OR = 1.24). In renal cell cancer, four genetic models depicted significant correlation, namely codominant 1 (OR = 1.28), codominant 2 (OR = 1.68), dominant (OR = 1.38), and allele model (OR = 1.29). For osteosarcoma, codominant 3 (OR = 0.81) and the overdominant model showed significant association (OR = 1.16). Three genetic models showed a protective effect in thyroid cancer, including codominant 2, recessive, and allele models (OR = 0.48, 0.59, and 0.68, respectively). Only the recessive model in Asian breast cancer patients (OR = 1.16) and codominant 3 and recessive model in mixed patients (OR = 1.43 and 1.39) showed an association.In the overall cancers and population, no association between </span><em>VEGFA</em> rs2010963 and cancer was found.</p></div><div><h3>Conclusions</h3><p>The present meta-analysis indicates that <em>VEGFA</em> rs2010963 polymorphism is associated with susceptibility to cancer, especially in African population. Stratified analysis suggests that rs2010963 is also associated with osteosarcoma, urogenital, renal, thyroid, and breast cancer. Trial sequential analysis also validated our findings.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 101017"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46482859","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 CYP17 gene polymorphism (rs743572) with polycystic ovary syndrome","authors":"R.M. Ali ,&nbsp;T.P. Shkurat ,&nbsp;A.A. Alexandrova ,&nbsp;E.S. Bugrimova ,&nbsp;S.V. Lomteva ,&nbsp;M.N. Ammar","doi":"10.1016/j.mgene.2021.100996","DOIUrl":"10.1016/j.mgene.2021.100996","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Introduction&lt;/h3&gt;&lt;p&gt;&lt;span&gt;Polycystic ovary syndrome (PCOS) affects 4–20% of women of reproductive age. The contribution of genetic factors to the etiology of PCOS is 79%, and the contribution of the environment, lifestyle and individual history is 21%. It is believed that the increased production of androgens in PCOS is a consequence of dysregulation of various genes involved in the synthesis of steroid hormones, such as &lt;/span&gt;&lt;em&gt;CYP11&lt;/em&gt;, &lt;em&gt;CYP17&lt;/em&gt; and &lt;em&gt;CYP19&lt;/em&gt;. Conflicting data on the association of the &lt;em&gt;CYP17&lt;/em&gt;&lt;span&gt; gene polymorphism (&lt;/span&gt;&lt;em&gt;rs743572&lt;/em&gt;) with PCOS determined the purpose of this meta-analysis - to study this association in a larger general population in order to determine whether polymorphism in the &lt;em&gt;CYP17&lt;/em&gt; T/C promoter is associated with an increased risk of PCOS.&lt;/p&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Methods&lt;/h3&gt;&lt;p&gt;A systematic search was carried out in various databases for articles on the relationship between &lt;em&gt;rs743572&lt;/em&gt; polymorphism of gene &lt;em&gt;CYP17&lt;/em&gt; and PCOS risk published up to May 2021. The articles were analyzed in accordance with the recommendations for systematic reviews and meta-analyzes (PRISMA). The criteria for inclusion of studies in the meta-analysis were: (i) case-control studies with healthy populations as controls; (ii) a study describing the diagnostic criteria for PCOS, sources of cases and controls; (iii) studies of genetic associations showing the frequency of genotypes of the studied polymorphism and PCOS in humans; (iv) sufficient genotype data to calculate odds ratio (OR) and 95% confidence interval (CI). The control HWE was first assessed for each study using the chi-square test (χ2). Meta-analysis was performed using Review Manager version 5.4. Odds ratios (OR) with a 95% confidence interval (CI) were used to assess the strength of the association between the &lt;em&gt;rs743572&lt;/em&gt; polymorphism of gene &lt;em&gt;CYP17&lt;/em&gt; and PCOS. Pooled OR was calculated for dominant (CC + TC vs. TT), recessive (CC vs. TC + TT), and allelic (C vs. T) models, as well as for homozygous (CC vs. TT) and heterozygous (TC vs. TT) models.&lt;/p&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;p&gt;Out of 577 potentially relevant articles, 17 articles were selected for eligibility assessment after excluding irrelevant and duplicate articles. 2283 cases and 2200 controls were evaluated to identify the relationship between the &lt;em&gt;rs743572&lt;/em&gt; polymorphism of the &lt;em&gt;CYP17&lt;/em&gt; gene and PCOS. Carriage of allele C was considered to increase the risk of PCOS. A significant association with PCOS risk was found for &lt;em&gt;rs743572&lt;/em&gt; in the general population using dominant, allelic and heterozygous models: (&lt;em&gt;p&lt;/em&gt; = 0.005, OR = 1.41, 95% CI 1.11–1.79; p = 0, 006, OR = 1.28, 95% CI 1.07–1.53; &lt;em&gt;p&lt;/em&gt; = 0.01, OR = 1.38, 95% CI 1.07–1.77), respectively. An association between this polymorphism and PCOS risk was not found in the recessive and homozygous models: (&lt;em&gt;p&lt;/em&gt; = 0.16, OR = 1.21, 95% CI 0.93–1.58; p = 0, 08, OR = ","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100996"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46499684","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":"Comparison of polymorphism 139C > A ( (rs737008) of protamine 1 gene in infertile men with diagnosis of oligospermia and asthenospermia","authors":"Mehdi Mohsenzadeh ,&nbsp;Aliyar Pirouzi ,&nbsp;Seyedeh Fereshteh Saadat ,&nbsp;Mahmood Dehghani Ashkezari","doi":"10.1016/j.mgene.2021.100978","DOIUrl":"10.1016/j.mgene.2021.100978","url":null,"abstract":"<div><p><span>The male infertility accounts for about half of the infertility in couples. The idiotypic asthenospermia and oligospermia, which mostly occur as a result of genetic mutations, are among the main causes of male infertility. Until now, the relationship between different SNPs in the PRM1 gene and male infertility have been reported. In this study, we evaluated the possible correlation between 139C &gt; A (rs737008) SNP in the PRM1 gene and asthenospermia/oligospermia in patients who referred to the Gerash Infertility Center. To aim this, three groups were considered in this study including healthy fertile males, asthenospermia patients and the patients suffering from oligospermia. After </span>DNA extraction from their blood samples, the PCR was carried out to amplify a 558 bp PRM1 gene fragment. Then, the RFLP technique was performed to identified the SNP in the PCR products. Our results showed that the frequency of the 139C &gt; A (rs737008) SNP in the population study was 41%. We found no significant differences between the SNP and asthenospermia/oligospermia in the current study. According to the demographic data, no significant differences were also found between smoking or alcohol consumption and male infertility in this study.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100978"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45342741","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":"Genetic analysis of IL4 (rs2070874), IL17A (rs2275913), and IL33 (rs7044343) polymorphisms in Iraqi multiple sclerosis patients by using T-plex real-time PCR method","authors":"Milad A. Al-Naseri ,&nbsp;Ehab D. Salman ,&nbsp;Ali H. Ad'hiah","doi":"10.1016/j.mgene.2021.100986","DOIUrl":"10.1016/j.mgene.2021.100986","url":null,"abstract":"<div><p><span>Multiple sclerosis (MS) is a neurodegenerative autoimmune disease that leads to axon demyelination and white matter plaque formation. The aim of the present study is to inspect the association between single nucleotide polymorphisms (SNPs) of </span><em>IL4</em> (rs2070874)<span><em>, </em><em>IL17A</em></span> (rs2275913), and <em>IL33</em><span><span><span> (rs7044343) and MS predisposition. The genotyping of the three genetic variants was conducted through tetra-plex-based real-time polymerase chain reaction (T-plex RT-PCR) method combined with the SYBR green fluorescent dye. Sixty-eight Iraqi MS patients and fifty healthy individuals (controls) were enrolled, and their </span>DNA was extracted from whole blood. The optimum annealing/extension temperature was set at 58 °C. For each SNP, allele-specific fragments were identified by their melting points generated through real-time PCR. </span>Agarose gel electrophoresis was performed to confirm the results. The distribution of the </span><em>IL4</em> SNP genotypes in patients and controls was in good agreement with Hardy-Weinberg equilibrium, while there was a skewness from Hardy-Weinberg equilibrium in patients' group for both <em>IL17A</em> and <em>IL33</em> SNPs. Multinomial logistic regression analysis was performed to investigate the association between the studied variants under four genetic models (dominant, recessive, over-dominant, and co-dominant) and MS risk. However, there were no significant differences in genotype/allele frequencies of three SNPs between patients and controls. Taken together, our study indicated that genotype/allele of <em>IL4</em> (rs2070874)<em>, IL17A</em> (rs2275913), and <em>IL33</em> (rs7044343) SNPs may not play a considerable role in the predisposition to MS in this sample of the Iraqi population. However, SYBR green-dependent T-plex RT-PCR can be a cost-effective, reproducible and simple method for genotyping SNPs of interest.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100986"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41375800","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":"An in silico analysis of genome-wide expression profiles of the effects of exhaustive exercise identifies heat shock proteins as the key players","authors":"Carlos A. Orozco ,&nbsp;Yeimy González-Giraldo ,&nbsp;Diego A. Bonilla ,&nbsp;Diego A. Forero","doi":"10.1016/j.mgene.2022.101012","DOIUrl":"10.1016/j.mgene.2022.101012","url":null,"abstract":"<div><p>Physical exercise induces important system disturbances in the human body in a dose-response manner. Meta-analyses of genome-wide expression studies (GWES) might contribute to identify gene expression patterns and to a better understanding of the molecular mechanisms behind the complexity of adaptations to exercise, under a systems biology approach. Here, we aimed to analyze available data for human GWES<span><span> that have evaluated the effect of exhaustive exercise in peripheral blood mononuclear cells (PBMC) and white blood cells (WBC). Three primary datasets retrieved from the NCBI Gene Expression Omnibus were meta-analyzed using a random effects model in the NetworkAnalyst software. After identifying nine differentially expressed genes (DEGs), we performed functional enrichment analyses to extract relevant biological information. A protein-protein interactions network on DEGs was built to evaluate the associated regulatory pathways. We found that five upregulated genes were members of the </span>heat shock protein family, one of the top stress-response groups of genes. The enrichment analysis revealed key roles of the DEGs on the cellular adaptations to exercise-induced stress (i.e., temperature stimulus, topologically-incorrect and unfolded proteins). Our comparison analysis of DEG signatures found in blood cells with the expression pattern on muscle skeletal tissue showed some common genes. Thus, novel DEGs that might serve as hormetic mediators to exercise-induced adaptations were identified. Further experimental research is needed to validate these findings.</span></p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 101012"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42218779","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":"Identification and characterization of genetic variants of TGFB1 in patients with congenital heart disease","authors":"Manohar Lal Yadav ,&nbsp;Ashutosh Narayan Bhasker ,&nbsp;Ashok Kumar ,&nbsp;Bhagyalaxmi Mohapatra","doi":"10.1016/j.mgene.2021.100987","DOIUrl":"10.1016/j.mgene.2021.100987","url":null,"abstract":"<div><h3>Background</h3><p>Congenital heart diseases (CHDs) are believed to be caused by abnormal gene functioning during embryonic heart development. Transforming growth factor-beta1 (TGFB1) is known to express in the early embryonic heart and regulates heart development.</p></div><div><h3>Methods</h3><p>In this study, the coding region of TGFB1 was screened for 238 CHD patients by Sanger sequencing. Case-control association study was performed to identify the risk allele for CHD. In silico and in vitro approaches were used to elucidate the role of rare missense variant of TGFB1 using P19 cell line.</p></div><div><h3>Results</h3><p><span><span>We identified a rare missense variant (c.29C &gt; G; p.P10R) in the signal peptide of the TGFB1 in two cases (MAF = 0.0042017), which was absent in 200 healthy controls. Although this variation is reported in the gnomAD (rs1800470, </span>MAF =0.0002386) and the ExAC database (MAF = 0.00064), it is not reported in INDEX-db and GenomeAsia 100K databases. We also found three polymorphisms, namely c.29C &gt; T; p.P10L, c.74G &gt; C; p.R25P and c.788C &gt; T; p.T263I. Case-control studies revealed that c.29C &gt; T (rs1800470) variation is a risk factor, significantly associated with the CHD phenotype (OR = 1.4361, </span><em>P</em> = 0.0083). However, c.74G &gt; C (rs1800471) and c.788C &gt; T (rs1800472) alleles are not associated with the disease. Additionally, two rare synonymous variations, i.e. c.348C &gt; T; p.T116T (MAF = 0.0042017) and c.501C &gt; T; p.H167H (MAF = 0.00210084) were also identified in two and one cases, respectively. These were absent in the 200 controls. In silico analysis showed that missense variation p.P10R enhances the formation of the α-helix in the signal peptide, which possibly increases the TGFB1 secretion. The luciferase-reporter assay demonstrated significantly increased activity of p(SBE)₄ (<em>P</em> = 0.016) and p(CAGA)₁₂ (<em>P</em> = 0.0004) promoters in response to p.P10R mutant versus wild-type TGFB1.</p></div><div><h3>Conclusion</h3><p>The p.P10R variant of TGFB1 implicated a gain-of-function activity which is potentially deleterious, while the c.29C &gt; T variation is a risk factor associated with the CHD.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100987"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49264477","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":"Sequence-based assessment of expediency of tri-, tetra-, and penta-nucleotides repeat autosomal STR markers in the central Indian population using Next Generation Sequencing (NGS)","authors":"Hirak Ranjan Dash ,&nbsp;Kamayani Vajpayee ,&nbsp;Ritesh Shukla ,&nbsp;Ankit Srivastava ,&nbsp;Pankaj Shrivastava ,&nbsp;Surajit Das","doi":"10.1016/j.mgene.2021.100983","DOIUrl":"10.1016/j.mgene.2021.100983","url":null,"abstract":"<div><p><span><span>Present-day forensic DNA analysis<span> is witnessing a paradigm shift from size-based allele determination by capillary electrophoresis<span> (CE) to sequence-based allele determination by Next Generation Sequencing (NGS). An attempt has been made to evaluate the sequence-based allelic data at two tri (D12ATA63, D22S1045), two tetra (D18S51, D1S1656), and two penta- (Penta D, Penta E) </span></span></span>nucleotides repeat<span> STR<span> markers in the central Indian population. 183.33 times allele gain has been observed in D1S1656 after evaluating individual allelic sequences in comparison to the size-based alleles. Despite not witnessing any sequence-based allele gain, highest power of discrimination (0.978), Polymorphic Information Content (0.9), Power of Exclusion (0.807), typical paternity index (5.31), Expected heterozygosity (0.906), and lowest matching probability (0.022) was observed at Penta E marker suggesting its more usefulness among the considered markers for forensic and paternity applications. A giant leap in sequence-based allelic information showed a significant increase in forensic and paternity parameters (</span></span></span><em>p</em><span> = 0.646) in D1S1656. Substitution of TAGA with either TAGG or TAGC was found to be responsible for the generation of sequence variant alleles in D1S1656. Besides, the observation of rs4847015 SNP in 11.5% of sequences further increases the evidentiary value of D1S1656 in comparison to other STR markers analyzed in this study.</span></p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100983"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43740344","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":"Identification of hub genes associated with human osteoarthritis cartilage: An in silico approach","authors":"Swetha Sunkar,&nbsp;K. Namratha,&nbsp;Desam Neeharika","doi":"10.1016/j.mgene.2022.101015","DOIUrl":"10.1016/j.mgene.2022.101015","url":null,"abstract":"<div><p>Osteoarthritis is a common orthopedic disease among the greatest causes of morbidity and disability worldwide; however, research on its pathogenesis and diagnostic methods remains limited. The present study focuses on analyzing the microarray dataset to elucidate the hub genes and pathways related to the osteoarthritis. The gene expression data was retrieved from GEO database (GSE169077) and differentially expressed genes were determined using GEO2R tool based on adjusted <em>P</em>-value and log2FC values based on which 27 genes were found to be significant of which 9 genes were up-regulated while 18 genes were down-regulated. This was followed by gene enrichment analysis identify the related Gene Ontology terms and pathways. The Protein-Protein Network is constructed with 15 nodes and 22 edges using STRING database and then exported to Cytoscape 3.8 to predict the hub genes. The hub genes identified are <em>POSTN, COL1A2, COL1A1, BMP1, MXRA5, MMP13 and SERPINF1</em>. The hub genes identified were not only found to be associated with bone related disorders but also few were involved in other diseases. Therefore targeting these genes for disease management could be a viable option in osteoarthritis.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 101015"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48584541","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":"Ace gene polymorphisms are ineffective on contrast induced nephropathy","authors":"İlhan Kılıç ,&nbsp;Orkide Palabıyık ,&nbsp;Gökay Taylan ,&nbsp;Tammam Sipahi ,&nbsp;Sedat Üstündağ","doi":"10.1016/j.mgene.2021.100992","DOIUrl":"10.1016/j.mgene.2021.100992","url":null,"abstract":"<div><p><span><span>Background: The renin–angiotensin system regulates the haemodynamics. </span>ACE </span>gene polymorphisms<span> are known to influence serum angiotensin converting enzyme level. Contrast nephropathy develops after exposure to intravascular contrast media that influence vascular hemodynamics. ACE gene polymorpisms may have an enhancing role in contrast media related renal injury.</span></p><p>The aim of the study: The aim of this study was to investigate the impact of ACE insertion/deletion (I/D) polymorphism in contrast-induced nephropathy (CIN) development.</p><p>Methods: 194 patients with chronic kidney disease that were administered iodinated contrast<span> media were examined. Patients were monitored for at least 7 days for CIN development after parenteral contrast exposure. Control and patient groups were divided in terms of CIN development status. Polymerase chain reaction was performed for the genotyping of the ACE gene polymorphism from DNAs that were isolated from peripheral blood of the patients.</span></p><p>Results: 83 patients with CIN (34 women, 49 men) and 111 control patients without CIN (43 women, 68 men) were enrolled. Gender was not statistically different between the two groups (<em>p</em> = 0.75). The average age of the CIN group (71) was greater than that of the control group (68). No association was detected between ACE gene polymorphism (II, ID AND DD genotypes) and CIN in both patients and controls.</p><p>Conclusion: ACE gene polymorphisms does not influence contrast induced nephropathy development.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 100992"},"PeriodicalIF":0.7,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47547001","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}