British Journal of Biomedical Science最新文献

{"title":"CCAT 1- A Pivotal Oncogenic Long Non-Coding RNA in Colorectal Cancer.","authors":"Xiew Leng Liau,&nbsp;Shamala Salvamani,&nbsp;Baskaran Gunasekaran,&nbsp;Dinesh Kumar Chellappan,&nbsp;Anthony Rhodes,&nbsp;Vaidehi Ulaganathan,&nbsp;Yee Lian Tiong","doi":"10.3389/bjbs.2023.11103","DOIUrl":"https://doi.org/10.3389/bjbs.2023.11103","url":null,"abstract":"<p><p>Colorectal cancer (CRC) is ranked as the third most common cancer and second deadliest cancer in both men and women in the world. Currently, the cure rate and 5-year survival rate of CRC patients remain relatively low. Therefore, discovering a novel molecular biomarker that can be used to improve CRC screening, diagnosis, prognosis, and treatment would be beneficial. Long non-coding RNA colon cancer-associated transcript 1 (CCAT 1) has been found overexpressed in CRC and is associated with CRC tumorigenesis and treatment outcome. CCAT 1 has a high degree of specificity and sensitivity, it is readily detected in CRC tissues and is significantly overexpressed in both premalignant and malignant CRC tissues. Besides, CCAT 1 is associated with clinical manifestation and advanced features of CRC, such as lymph node metastasis, high tumor node metastasis stage, differentiation, invasion, and distant metastasis. In addition, they can upregulate oncogenic c-MYC and negatively modulate microRNAs <i>via</i> different mechanisms of action. Furthermore, dysregulated CCAT 1 also enhances the chemoresistance in CRC cells while downregulation of them reverses the malignant phenotypes of cancer cells. In brief, CCAT 1 serves as a potential screening, diagnostic and prognostic biomarker in CRC, it also serves as a potential therapeutic marker to treat CRC patients.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"80 ","pages":"11103"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10070472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9276695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intermittent Short-Duration Re-oxygenation Attenuates Cardiac Changes in Response to Hypoxia: Histological, Ultrastructural and Oxidant/Antioxidant Parameters.","authors":"Ayed A Shati,&nbsp;Mohamed Samir A Zaki,&nbsp;Youssef A Alqahtani,&nbsp;Mohamed A Haidara,&nbsp;Mohammed A Alshehri,&nbsp;Amal F Dawood,&nbsp;Refaat A Eid","doi":"10.3389/bjbs.2022.10150","DOIUrl":"https://doi.org/10.3389/bjbs.2022.10150","url":null,"abstract":"<p><p><b>Context:</b> Intermittent short-duration re-oxygenation attenuates cardiac changes in response to hypoxia. <b>Objective:</b> To see if intermittent short-duration re-oxygenation may protect the heart muscle from hypoxia damage. <b>Materials and Methods:</b> Eighteen albino rats were used to carry out the study. Rats divided into: (normoxia); rats exposed to room air as a control, second (hypoxic) group; rats subjected to a pressure of 405 mmHg in a hypobaric chamber to simulate hypoxia at 5,000 m, and third (intermittent short-duration re-oxygenation); rats exposed to room air three times per day. Experiments were all 14 days long. <b>Results:</b> Hypoxia enhanced the oxidative stress biomarker malondialdehyde while lowering the antioxidant superoxide dismutase . The levels of tumour necrosis factor (TNF-α) and interleukin-6 (IL-6) in the myocardium were elevated in hypoxic hearts. The hypoxic rats' cardiac myofibrils showed disarray of muscle fibres, vacuolation of the sarcoplasm, pyknosis of the nucleus, and expansion of intercellular gaps on histological examination. In addition, cardiomyocytes showed degenerative defects in ventricular myocardial cells on ultrastructural analysis. Myofibril thinning and degenerative mitochondrial changes affected intercalated discs with fascia adherent, desmosomes, and gap junction. Intermittent short-duration re-oxygenation improve cardiac histological, ultrastructural and oxidant/antioxidant parameters changes during hypoxia. <b>Conclusion:</b> Hypoxia showed a substantial impact on myocardial architecture, as well as increased oxidative stress and pro-inflammatory cytokines. Intermittent short-duration re-oxygenation significantly decreases hypoxia-induced cardiac changes.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"79 ","pages":"10150"},"PeriodicalIF":1.9,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9828773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Leukocytosis induced by tigecycline in two patients with severe acute pancreatitis.","authors":"X Li,&nbsp;L Li,&nbsp;T Liu,&nbsp;X Hai,&nbsp;B Sun","doi":"10.1080/09674845.2021.1885865","DOIUrl":"https://doi.org/10.1080/09674845.2021.1885865","url":null,"abstract":"Department of Pharmacy, The First Affiliated Hospital of Harbin Medical University, Harbin, China; Department of Pancreatic and Biliary Surgery, The First Affiliated Hospital of Harbin Medical University; Key Laboratory of Hepatosplenic Surgery, Ministry of Education, The First Affiliated Hospital of Harbin Medical University, Harbin, China; Department of Pharmacy, Harbin Medical University Cancer Hospital, Harbin, China","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"225-228"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1885865","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25378830","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased serum CA125 II, but not CEA，CA19-9，AFP or CA72-4 in colon cancer compared to rectal cancer.","authors":"T Liu,&nbsp;X Li,&nbsp;D Liu,&nbsp;S Liu,&nbsp;M Dong","doi":"10.1080/09674845.2020.1868685","DOIUrl":"https://doi.org/10.1080/09674845.2020.1868685","url":null,"abstract":"Globally, colorectal cancer is the third most frequent cancer type, with &gt;1.4 million new cases and &gt;690,000 deaths annually [1]. Survival from colorectal cancer is significantly dependent on the stage at diagnosis, with the 5-year rate at ~90% for localized disease, 70% for regional disease and 13% for distantly metastatic disease [2]. Several screening tests, including faecal occult blood test and colonoscopy, are frequently used in the detection of colorectal cancer. However, none are established and well-accepted screening tools due to their invasiveness, high cost or low sensitivity [3]. Therefore, the search for more sensitive, easily detected and representative biomarkers is of great significance for the early diagnosis and monitoring of this disease. Several biological and clinical hallmarks indicate that rectal cancer is different from colon cancer. The rectum and colon have a different embryological origin, anatomy and function [4]. Consequently, the treatments for primary rectal and colon cancer are different. Primary rectal cancer requires specific surgical treatment: total mesorectal excision, preceded by neoadjuvant radiotherapy or chemoradiotherapy [5]. Despite a substantial rise in survival over the last two decades, the 5-year diseasespecific overall survival rate is approximately 59% for colon cancer and 61% for rectal cancer [6]. This indicates that it is very important to explore the difference between colon cancer and rectal cancer. Tumour markers are widely useful in the management of patients with tumours. Serum carcinoembryonic antigen (CEA) and cancer antigen 19–9 (CA19-9) are the most commonly used indexes in the clinical diagnosis of colorectal cancer, but both are non-specific. CEA is a glycoprotein produced by columnar and goblet cells in the normal colon cells, as well as colonic cancer cells with a half-life of 3–11 days. CA19-9 is also a glycoprotein with high molecular weight, which may be detected in the blood of gastrointestinal cancer patients [7]. We hypothesized different expressions of CEA, CA19-9, alpha-fetoprotein (AFP), cancer antigen 72–4 (CA72-4) and cancer antigen 125 II (CA125 II) between colon cancer and rectal cancer, hoping to provide reference for the different pathogenesis and treatment of these diseases. Of 219 patients with histopathologically confirmed colorectal cancer, 114 had colon cancer and 105 rectal cancer. There was no significant difference in age and gender between the colon cancer group and rectal cancer group (table 1). Five mL peripheral blood was extracted from a peripheral vein, and serum isolated by centrifugation at 2000× g for 15 min. Serum CA19-9, AFP, CA72-4 and CA125 II levels were determined by radioimmunoassay (Roche Diagnostics, Indianapolis, IN, USA), with a normal upper limit of 37 U/ml, 7 ng/ml, 6.9 U/ml and 35 U/ml, respectively. The serum CEA level was determined by ELISA (Dinabot, Tokyo, Japan), with a normal upper limit of 5 ng/ml. Statistical analysis was perfor","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"218-220"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2020.1868685","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38777024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association analysis of KISS1 polymorphisms and haplotypes with polycystic ovary syndrome.","authors":"M Farsimadan,&nbsp;F Moammadzadeh Ghosi,&nbsp;S Takamoli,&nbsp;H Vaziri","doi":"10.1080/09674845.2020.1864109","DOIUrl":"https://doi.org/10.1080/09674845.2020.1864109","url":null,"abstract":"<p><strong>Introduction: </strong><i>KISS1</i> play an essential role in human reproductive functions by regulating the hypothalamic-pituitary-gonadal axis. Loss-of-function mutations in this gene have been frequently identified in patients with different reproductive disorders. We hypothesised links between <i>KISS1</i> polymorphisms and polycystic ovary syndrome (PCOS).</p><p><strong>Materials and methods: </strong>In order to find links between <i>KISS1</i> polymorphisms rs4889 C > G, rs12998 G > A, and rs35431622 A > G with PCOS, 770 blood samples were obtained from 385 control and 385 PCOS women. DNA was extracted, and genotyped for <i>KISS1</i> variants by PCR.</p><p><strong>Results: </strong>rs12998 G > A was linked to PCOS in dominant (p < 0.001), recessive (p < 0.001), co-dominant (p < 0.001), and allelic models (p < 0.001). In addition, rs4889 C > G was linked in recessive, dominant, co-dominant, and allelic models (p < 0.001). rs35431622 A > G was not linked to PCOS. Further analysis indicated that C-G-G haplotype was more common and G-A-G haplotype was less prevalent in cases compared with controls.</p><p><strong>Conclusion: </strong><i>KISS1</i> variants rs12998 G > A and rs4889 C > G may be linked to the pathophysiology of PCOS.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"201-205"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2020.1864109","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38700882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac biomarkers for risk stratification of arrhythmic death in patients with heart failure and reduced ejection fraction.","authors":"A L Burger, S Stojkovic, A Diedrich, J Wojta, S Demyanets, T Pezawas","doi":"10.1080/09674845.2021.1883257","DOIUrl":"10.1080/09674845.2021.1883257","url":null,"abstract":"<p><p><b>Objectives</b>. Patients with heart failure and reduced left ventricular ejection fraction (HFrEF) are prone to ventricular tachyarrhythmias. We tested whether biomarkers C-terminal Endothelin 1 (CT-ET1), midregional pro atrial natriuretic peptide (MR-proANP) and midregional pro adrenomedullin (MR-proADM) might improve risk stratification for arrhythmic death.<b>Methods</b>: This prospective observational study included 160 heart failure patients with ischaemic cardiomyopathy (ICM) or non-ischaemic, dilated cardiomyopathy (DCM) and 30 control patients without heart disease. Primary endpoint was arrhythmic death (ArD) or resuscitated cardiac arrest (resCA).<b>Results</b>: A total of 61 patients died during the median follow-up of 7.0 [5.2-8.4] years. An ArD or resCA was observed in 48 patients. Plasma levels of CT-ET1 (p = 0.002), MR-proANP (p < 0.001) and MR-proADM (p = 0.013) were significantly higher in ICM or DCM patients compared to controls. MR-proANP levels in ICM patients were associated with a significantly increased risk for ArD or resCA (hazard ratio (HR) = 1.42, [95%CI: 1.08-1.85], p = 0.011) in a multivariable Cox regression model. Plasma levels of CT-ET1 (HR = 1.07 [0.98-1.17], p = 0.113) and MR-proADM (HR = 1.80 [0.92-3.55], p = 0.087) were not associated with ArD or resCA in ICM patients. No significant association with ArD or resCA was found in DCM patients. Multivariable Cox regression showed that CT-ET1 (HR = 1.14 [1.07-1.22], p < 0.001), MR-proANP (HR = 1.64 [1.29-2.08], p < 0.001) and MR-pro ADM (HR = 2.06 [1.12-3.77], p = 0.020) were associated with a higher risk for overall mortality.<b>Conclusion</b>: Patients with HFrEF had elevated levels of CT-ET1, MR-proANP and MR-proADM. Plasma levels of MR-proANP are useful as predictor for arrhythmic death in patients with ICM.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"195-200"},"PeriodicalIF":2.7,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11285446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38865592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The clinical value of serum sirtuin-1 in the diagnosis of rheumatoid arthritis: a pilot study.","authors":"X Li,&nbsp;X Li,&nbsp;T Zeng,&nbsp;Y Liu,&nbsp;T Hu,&nbsp;J Huang,&nbsp;Y Wu,&nbsp;J Yu,&nbsp;Z Pei,&nbsp;L Tan","doi":"10.1080/09674845.2021.1880085","DOIUrl":"https://doi.org/10.1080/09674845.2021.1880085","url":null,"abstract":"<p><p><b>Introduction</b>: Cell biology studies, animal models and other data suggest a role for sirtuin-1 in the pathogenesis of rheumatoid arthritis (RA). We hypothesized the clinical significance of serum sirtuin-1 in this disease.<b>Methods</b>: Serum was obtained from 141 RA patients, 144 non-RA patients and 88 healthy controls. Sirtuin-1, anti-mutant citrulline vimentin antibody (anti-MCV), anti-cyclic citrulline polypeptide antibody (anti-CCP), rheumatoid factor and C-reactive protein were measured by immunological methods, and erythrocyte sedimentation rate was determined by the Westergren method.<b>Results</b>: All markers were higher in the RA group than in the non-RA group and the healthy control group (P < 0.01). The specificity of sirtuin-1 for the diagnosis of RA was 97% (the highest among all markers), sensitivity was 71%. In ROC curve analysis, the AUCs (95% CI) of sirtuin-1, anti-CCP and anti-MCV were 0.87 (0.82-0.91), 0.91 (0.88-0.94) and 0.92 (0.89-0.95) respectively (all p < 0.01). The combination of sirtuin-1and anti-MCV gave the highest Youden index of 0.79, whilst Cox regression showed sirtuin-1 and rheumatoid factor were the strongest independent predictors of RA.<b>Conclusions</b>: Serum sirtuin-1 is increased in RA, and may have a place is the diagnosis of this disease when combined with other markers.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"191-194"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1880085","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38875212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MicroRNA variants in endometriosis and its severity.","authors":"M Farsimadan,&nbsp;M Ismail Haje,&nbsp;C Khudhur Mawlood,&nbsp;I Arabipour,&nbsp;A Emamvirdizadeh,&nbsp;S Takamoli,&nbsp;M Masumi,&nbsp;H Vaziri","doi":"10.1080/09674845.2021.1889157","DOIUrl":"https://doi.org/10.1080/09674845.2021.1889157","url":null,"abstract":"<p><p><b>Background</b>: MicroRNAs (miRNAs) are naturally occurring posttranscriptional regulatory molecules that potentially play a role in endometriotic lesion development.<b>Method</b>: We evaluated the prevalence of miRNAs variants miR-146a rs2910164, miR-149 rs2292832, miR-196a2 rs11614913, and miR-499 rs3746444 in endometriosis in 260 cases and 260 controls. DNA was extracted and genotyping of the SNPs was carried out by PCR.<b>Results</b>: There was a significant association of rs2910164 and rs2292832 with increased rates of endometriosis under the dominant (p < 0.001), recessive (p < 0.05), co-dominant (p < 0.001), and allelic model (p < 0.001). Also, rs3746444 showed a borderline association with endometriosis under the recessive model (p = 0.05); however, rs11614913 was not linked to endometriosis. Further analysis indicated the significant association of miR-146a rs2910164 polymorphism genotypes (GG, GC, and CC) and miR-149 rs2292832 genotypes (CC and CT) with endometriosis severity in patients (p < 0.001). Additionally, haplotype frequency in cases compared to controls and Linkage disequilibrium (LD) between the mentioned SNPs was appraised.<b>Conclusion</b>: MiR-146a, miR-149 and miR-499 may have a role in the pathogenesis of endometriosis.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"206-210"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1889157","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25370409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Faecal immunochemical testing (FIT): sources of result variation based on three years of routine testing of symptomatic patients in English primary care.","authors":"T James,&nbsp;B D Nicholson,&nbsp;R Marr,&nbsp;M Paddon,&nbsp;J E East,&nbsp;S Justice,&nbsp;J L Oke,&nbsp;B Shine","doi":"10.1080/09674845.2021.1896204","DOIUrl":"https://doi.org/10.1080/09674845.2021.1896204","url":null,"abstract":"<p><p><b>Introduction</b>: We aimed to determine the analytical capabilities of a commonly used faecal immunochemical test (FIT) to detect faecal haemoglobin (Hb) in symptomatic people attending primary care in the context of the English NICE DG30 guidance.<b>Materials and Methods</b>: Data obtained from independent verification studies and clinical testing of the HM-JACKarc FIT method in routine primary care practice were analysed to derive performance characteristics.<b>Results</b>: Detection capabilities for the FIT method were 0.5 µg/g (limit of blank), 1.3 µg/g (limit of detection) and 3.0 µg/g (limit of quantitation). Of 33 non-homogenized specimens, 31 (93.9%) analysed in triplicate were consistently categorized relative to 10 µg/g, compared to all 33 (100%) homogenized specimens. Imprecision was higher (median 27.8%, (range 20.5% to 48.6%)) in non-homogenized specimens than in homogenized specimens (10.2%, (7.0 to 13.5%)). Considerable variation was observed in sequential clinical specimens from individual patients but no positive or negative trend in specimen degradation was observed over time (p = 0.26).<b>Discussion</b>: The FIT immunoassay evaluated is capable of detecting faecal Hb at concentrations well below the DG30 threshold of 10 µg/g and is suitable for application in this context. The greatest practical challenge to FIT performance is reproducible sampling, the pre-analytical step associated with most variability. Further research should focus on reducing sampling variability, particularly as post-COVID-19 guidance recommends greater FIT utilization.</p>","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"211-217"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1896204","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25401836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transforming growth factor-β1 gene polymorphism rs1800471 and end-stage renal disease.","authors":"S Almukhtar","doi":"10.1080/09674845.2021.1908689","DOIUrl":"https://doi.org/10.1080/09674845.2021.1908689","url":null,"abstract":"The mortality rate in the ultimate form of chronic kidney disease (CKD), that is, end-stage renal disease (ESRD), is high, the main cause being cardiovascular disease (CVD). While typical risk factors such as hypertension, diabetes mellitus, dyslipidemia, age, and smoking are prevalent in ESRD patients on dialysis, the high prevalence of CVD in these patients can only be partly explained. In the development of CKD and its complications, as in other multifactorial disorders, genetic factors interact with environmental factors [1]. Several studies have linked chronic inflammation and morbidity and mortality in maintenance-haemodialysis patients with ESRD. Proinflammatory cytokines play an important role, providing a link between accelerated atherogenesis, and excessive morbidity and mortality in ESRD [2]. Specific single-nucleotide polymorphisms (SNPs) in genes may directly or indirectly lead to variations in their activity and have significant impacts in different diseases [3–8]. There are several SNPs in the transforming growth factor-β1 (TGF-β1) gene located at 19q13, some of which affect TGF-β1 protein levels. At position 74 of the TGF-β1 signal chain, the G/C transition causes the amino acid sequence to shift in codon 25 from arginine (CCG) to proline (CCG). TGF-β1 overexpression reduces the accumulation of macrophages and T cells and decreases the release of inflammatory mediators in renal disease. A typical pathological phenomenon characteristic of ESRD is progressive fibrosis of kidney tissue and subsequent sclerosis. TGF-β1 exerts its profibrotic activity by inducing fibroblast proliferation, extracellular matrix synthesis and epithelial-tomesenchymal transformation. Although studies have investigated the effects of the TGF-β1 SNPs in the pathogenesis of different diseases few have investigated the influence of TGF-β1 SNPs on ESRD, and the results are contradictory. This study tested the hypothesis of a link between TGF-β1 and its product with SNPs in rs1800471 with ESRD. The hypothesis was tested in 150 patients with ESRD (&gt;1 year dialysis) and 150 healthy controls free of any renal disease. Common co-morbidities in the patients were high blood pressure, loss of appetite, and fatigue. Written informed consent was obtained from all participants. The study was approved by the high graduate committees of Hawler Medical University, Erbil, Kurdistan Region-Iraq. Seven millilitres of blood samples were taken from all participants and put in two different tubes, some to obtain serum for the determination of serum TGF-β1 by ELISA (R&D Systems, Minneapolis, USA) and for routine renal indices and some (into EDTA) for DNA analysis by amplification refractory mutation system PCR. The genomic DNA was isolated and extracted from the venous blood of the studied samples according to standard salting out procedures. Primer sequences were a TGF-β1 generic primer, 5 ́-GG CGAGCCGCAGCTTGGACA-3 ́, TGF-β1 (G) allele primer 5 ́-TGGTGCTGACGCCTGGCCG-3 ́ and TGF-β1","PeriodicalId":9236,"journal":{"name":"British Journal of Biomedical Science","volume":"78 4","pages":"233-235"},"PeriodicalIF":1.9,"publicationDate":"2021-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1080/09674845.2021.1908689","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"25515369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}