scholarly journals The IL-17A rs2275913 polymorphism is associated with colorectal cancer risk

2020 ◽  
Vol 48 (12) ◽  
pp. 030006052097911
Author(s):  
Shulong Zhang ◽  
Xiaoting Wang
Keyword(s):  
Colorectal Cancer ◽  
Logistic Regression ◽  
Fragment Length Polymorphism ◽  
Pooled Analysis ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Age And Gender ◽  
Polymerase Chain ◽  
And Gender

Objective The association of the IL-17A rs2275913 polymorphism with the risk of colorectal cancer (CRC) has been previously reported. However, the results are inconsistent. In this study, we comprehensively assessed the effect of the rs2275913 polymorphism on CRC risk. Methods The rs2275913 polymorphism of 208 CRC patients and 312 age- and gender-matched healthy controls was genotyped by the polymerase chain reaction-restriction fragment length polymorphism method, and then analyzed by logistic regression. In addition, a pooled analysis based on five single-center studies was performed using Stata 12.0 software. Results Logistic regression analysis indicated that the IL-17A rs2275913 polymorphism was associated with CRC risk (GA vs. GG: OR = 1.53, 95% CI = 1.02–2.28; AA vs. GG: OR = 1.89, 95% CI = 1.11–3.20; GA+AA vs. GG: OR = 1.62, 95% CI = 1.11–2.37; A vs. G: OR = 1.38, 95% CI = 1.07–1.77). Further pooled analysis also indicated a statistically significant association between the rs2275913 polymorphism and CRC risk in Asians and Northern Africans. Conclusion This study suggested that the IL-17A rs2275913 polymorphism may act as a biomarker for predicting CRC risk. However, further functional research should be performed to clarify the role of the rs2275913 polymorphism in the etiology of CRC.

scholarly journals Association Analysis of COQ2 Variant in Dementia and Essential Tremor

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Yin Xia Chao ◽  
Ebonne Yu Lin Ng ◽  
Huihua Li ◽  
Kandiah Nagaendran ◽  
Yuen Yih ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Confidence Interval ◽  
Multiple System Atrophy ◽  
Essential Tremor ◽  
Association Analysis ◽  
Odds Ratio ◽  
Healthy Controls ◽  
Age And Gender ◽  
And Gender

Objective. COQ2 mutations have been reported in Japanese multiple system atrophy (MSA) patients. We examined the role of COQ2 in patients with dementia and essential tremor (ET), two common neurodegenerative conditions.Materials & Methods. A total of 2064 subjects, including 560 patients with dementia, 466 patients with ET, and 1038 healthy controls, were included. Genotyping for the COQ2 V393A (T>C) was carried out. Odds ratio (OR) adjusted by age and gender, together with 95% confidence interval (CI), was reported by means of logistic regression.Results. The frequency of the polymorphic variant V393A heterozygous (T/C) was 2.7% in dementia, 1.1% in ET, and 2.5% in controls (OR = 0.70, 95% confidence interval is 0.29–1.72 for dementia, and OR = 0.47, 95% confidence interval is 0.17–1.31,p=0.1217for ET). There was no significant association between V393A variant with dementia and ET.Conclusion. There was no significant association between V393A variant with dementia and ET. COQ2 gene is unlikely to play a significant role in patients with dementia or ET in our population.

scholarly journals CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Nutrients ◽  
2020 ◽  
Vol 12 (4) ◽  
pp. 998
Author(s):  
Maria Latacz ◽  
Jadwiga Snarska ◽  
Elżbieta Kostyra ◽  
Konrad Wroński ◽  
Ewa Fiedorowicz ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Vitamin D ◽  
Fragment Length Polymorphism ◽  
Intestinal Cells ◽  
Chain Reaction ◽  
The Third ◽  
Pcr Rflp ◽  
Study Population ◽  
Polymerase Chain ◽  
Peripheral Leukocytes

Colorectal cancer (CRC) is the third most commonly occurring cancer worldwide. Intestinal cells are CYP27B1 gene expression sites and, as a consequence, they are capable of converting pro-vitamin D into the active paracrine and autocrine forms. It was demonstrated that rs10877012 polymorphism in the CYP27B1 gene influenced the circulating vitamin D level. This provided a rationale for determining the role that this polymorphism plays in the risk of developing colon cancer. In this study, we investigated the association of rs10877012 (T/G) polymorphism in the CYP27B1 gene with CRC susceptibility. The study population (n = 325) included CRC patients (n = 106) and healthy controls (n = 219). DNA was extracted from peripheral leukocytes and analyzed for the CYP27B1 polymorphism using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. We found an association between the presence of the T allele at the polymorphic site (odds ratio (OR) = 2.94; 95% CI 1.77–4.86; p < 0.0001) and a decreased CRC incidence.

scholarly journals MDR1 polymorphisms are not related to Xeliri and Xelox chemoresistance in colorectal cancer

2019 ◽  
Author(s):  
Ayat B. Al-Ghafari ◽  
Areej M. Alqahtani ◽  
Suzan N. Alturki ◽  
Huda Abdulaziz Al Doghaither ◽  
Hanaa M. Tashkandi ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Drug Response ◽  
Fragment Length Polymorphism ◽  
Protective Role ◽  
Genotype Distribution ◽  
Chain Reaction ◽  
P Glycoprotein ◽  
Significant Difference ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract Background Multidrug resistance member 1 (MDR1) is located on chromosome 7 and encodes P-glycoprotein (Pgp), which is universally accepted as a drug resistance biomarker. MDR1 polymorphisms may change either the protein expression or function, suggesting its possible association with cancers, including colorectal cancer (CRC). Thus, this study aimed to determine the effects of MDR1 polymorphisms on the drug response of Saudi CRC patients.Methods DNA samples were obtained from 62 CRC patients and 100 healthy controls. The genotypes and allele frequencies of the MDR1 polymorphisms G2677T and T1236C were determined by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP).Results No significant difference was observed in the genotype distribution and allele frequency of T1236C between the CRC the patients and the controls. However, G2677T was found to play a highly significant protective role against the progression of CRC. Moreover, the results showed that none of the genotypes in SNPs T1236C and G2677T affected chemoresistance to Xeliri and Xelox.Conclusions T1236C in the MDR1 gene is not related to CRC risk, and G2677T protects against the development of CRC. Both MDR1 polymorphisms are not associated with the risk of chemoresistance.

Study of the HLA-DPβ1 Locus by the Polymerase Chain Reaction Technique in Patients with Hodgkin's Disease

1993 ◽  
Vol 79 (2) ◽  
pp. 133-136 ◽  
Author(s):  
Guseppe Pellegris ◽  
Claudia Lombardo ◽  
Annelisa Cantoni ◽  
Liliana Devizzi ◽  
Monica Balzarotti
Keyword(s):  
Polymerase Chain Reaction ◽  
Hodgkin's Disease ◽  
Hodgkin’S Disease ◽  
Polymerase Chain Reaction Method ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Reaction Method ◽  
Significant Difference ◽  
Polymerase Chain

Background A number of reports have studied associations between Hodgkin's disease and HLA. Some of them established correlation between several antigens and Hodgkin's disease, and others found no correlations. Methods The HLA DP locus was determined by the polymerase chain reaction method in 31 Hodgkin's disease patients and 58 healthy controls. Results No significant difference between patients and controls was noted. Conclusions Further investigations are needed to confirm the hypothesis of a possible role of the HLA complex as one of the factors involved in Hodgkin's disease.

Hopelessness and serotonin related genes in depresseed suicide attempters

2011 ◽  
Vol 26 (S2) ◽  
pp. 1620-1620
Author(s):  
D.B. Jovanovic ◽  
A. Jovanovic ◽  
M. Ivkovic ◽  
M. Jasovic Gasic
Keyword(s):  
Suicidal Behavior ◽  
Gene Polymorphisms ◽  
Polymerase Chain Reaction Method ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Suicide Attempters ◽  
Suicidal Intent ◽  
Polymerase Chain ◽  
Commit Suicide

IntroductionOne million people worldwide commit suicide each year; the number of attempters is 20 times larger. The diathesis to suicidal behavior is inherited independently from mental disorders and is most often associated with depression. The importance of serotonergic genes in the genesis of suicidal behavior and depression is assumed. The link between depression and suicidal behavior is hopelessness.ObjectivesAnalyzing the link of certain serotonergic alleles and genotypes with suicidal behavior and depression, as well as with hopelessness.AimsTo analyze the association of chosen serotonergic alleles and genotypes (5HTT LPR, LPR SNP, VNTR2; THP1 A218C, 5HTR1A C1019G; 5HTR2A T102C, C1354 T) with suicidal behavior, depression and hopelessness.MethodsThe study included 30 depressed suicide attempters, 30 depressed patients without attempt and 30 healthy controls. Polymerase Chain Reaction method was used to analyze serotonergic gene polymorphisms. Participants were tested with Beck Depression Inventory, Suicidal Intent Scale, Becks Hopelessness Scale.ResultsTwo analyzed polymorphisms are associated with depression, but not with suicidal behavior (5HTTintron 2 alele 10 and A218 of the TPH1 gene). Hopelessness is more prominent in depressed suicide attempters.ConclusionsThe results support the role of two serotonergic genes in the genesis of depression. Hopelessness is an important predictor of suicidal behavior. Further investigation of the role of serotonergic genes in various subtypes of suicidal behavior is suggested.

scholarly journals Association betweenTLR4andTLR9Gene Polymorphisms with Development of Pulmonary Tuberculosis in Zahedan, Southeastern Iran

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Danial Jahantigh ◽  
Saeedeh Salimi ◽  
Roya Alavi-Naini ◽  
Abolfazl Emamdadi ◽  
Hamid Owaysee Osquee ◽  
...  
Keyword(s):  
Genetic Factors ◽  
Fragment Length Polymorphism ◽  
Healthy Controls ◽  
Newly Diagnosed ◽  
Significant Relation ◽  
Chain Reaction ◽  
Endemic Region ◽  
Increased Risk ◽  
Increase Risk ◽  
Polymerase Chain

Some evidence suggests that a variety of genetic factors contribute to development of the tuberculosis (TB).TLR4andTLR9have been proposed as susceptibility genes for TB. This study was performed in 124 newly diagnosed TB cases and 149 healthy controls in a TB-endemic region of Iran. TheTLR4genes Asp299Gly, Thr399Ile, andTLR9gene T-1486C polymorphisms were amplified by polymerase chain reaction (PCR) and then detected by PCR-restriction fragment length polymorphism (RFLP). The frequencies of the mutant alleles ofTLR4Arg299Gly, Thr399Ile, andTLR9T-1486C polymorphisms were 0.8versus0.1, 5.6versus3, and 28.6versus25.2 in patients and controls, respectively, that were not significant. The synergic effect of TI,II/CC genotypes forTLR4Thr399Ile andTLR9T-1486C polymorphisms showed increased risk of PTB susceptibility. In conclusion, no significant relation was found betweenTLR4andTLR9polymorphisms alone and PTB. However, synergic effects ofTLR4Thr399Ile andTLR9-1486T/C polymorphisms might increase risk of PTB.

scholarly journals The effect of survivin gene in breast cancer risk and prognosis

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Roya Mashadiyeva ◽  
Canan Cacina ◽  
Soykan Arikan ◽  
Saime Sürmen ◽  
Seyda Demirkol ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Tumor Suppressor Genes ◽  
Promoter Region ◽  
Tumor Necrosis ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Inhibitory Protein ◽  
Pcr Rflp ◽  
Polymerase Chain

Abstract Objectives The accumulation of genetic damages in onset of cancer induce activation of protooncogenes or inactivation of tumor suppressor genes thus cause disruption of the balance between cell proliferation and programmed cell death. As a member of the apoptosis inhibitory protein family (IAP), survivin play important roles in carcinogenesis process. The evidence suggests that polymorphisms located in survivin promoter region may be important in determining genetic susceptibility of cancer. In this study, we aimed to examine a possible role of survivin −31 and −625 G/C gene polymorphisms in breast cancer. Methods A total of 160 breast cancer cases and 153 healthy controls were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology. Results Genotype and allele distributions and of −31 and −625 G/C polymorphisms were not significantly different between two groups. However, we observed the carriers of survivin −625 C/G polymorphism homozygous genotypes (GG/CC) were the significantly higher in patients with tumor necrosis (p=0.047). Conclusions Our results suggest that survivin −625 C/G polymorphism may be related with tumor prognosis, but we are opinion of that our result require to be validated in larger samples and further comprehensive research may explore the correlation.

scholarly journals Symptoms COVID 19 Positive Vapers Compared to COVID 19 Positive Non-vapers

2022 ◽  
Vol 13 ◽  
pp. 215013192110626
Author(s):  
David D. McFadden ◽  
Shari L. Bornstein ◽  
Robert Vassallo ◽  
Bradley R. Salonen ◽  
Mohammed Nadir Bhuiyan ◽  
...  
Keyword(s):  
Nasopharyngeal Swab ◽  
Symptom Experience ◽  
Rt Pcr ◽  
Chain Reaction ◽  
Age And Gender ◽  
Robust Variance ◽  
Polymerase Chain ◽  
And Gender ◽  
Variance Estimates ◽  
The Impact

Objectives: The purpose of the present study was to assess and describe the severity of symptoms reported by Covid-19 positive patients who vaped (smoked e-cigarettes) when compared to those who did not vape or smoke at the time of the diagnosis of Covid-19. Methods: Patients from this study are from a well-characterized patient cohort collected at Mayo Clinic between March 1, 2020 and February 28, 2021; with confirmed COVID-19 diagnosis defined as a positive result on reverse-transcriptase–polymerase-chain-reaction (RT-PCR) assays from nasopharyngeal swab specimens. Among the 1734 eligible patients, 289 patients reported current vaping. The cohort of vapers (N = 289) was age and gender matched to 1445 covid-19 positive patients who did not vape. The data analyzed included: date of birth, gender, ethnicity, race, marital status, as well as lifestyle history such as vaping and smoking and reported covid-19 symptoms experienced. Results: A logistic regression analysis was performed separately for each symptom using generalized estimating equations (GEE) with robust variance estimates in order to account for the 1:5 age, sex, and race matched set study design. Patients who vaped and developed Covid-19 infection were more likely to have chest pain or tightness (16% vs 10%, vapers vs non vapers, P = .005), chills (25% vs 19%, vapers vs non vapers, P = .0016), myalgia (39% vs 32%, vapers vs non vapers, P = .004), headaches (49% vs 41% vapers vs non vapers, P = .026), anosmia/dysgeusia (37% vs 30%, vapers vs non vapers, P = .009), nausea/vomiting/abdominal pain (16% vs 10%, vapers vs non vapers, P = .003), diarrhea (16% vs 10%, vapers vs non vapers, P = .004), and non-severe light-headedness (16% vs 9%, vapers vs non vapers, P < .001). Conclusion: Vapers experience higher frequency of covid-19 related symptoms when compared with age and gender matched non-vapers. Further work should examine the impact vaping has on post-covid symptom experience.

scholarly journals Dysregulated microRNA expression in rheumatoid arthritis families—a comparison between rheumatoid arthritis patients, their first-degree relatives, and healthy controls

2020 ◽  
Author(s):  
Emma Renman ◽  
Mikael Brink ◽  
Lisbeth Ärlestig ◽  
Solbritt Rantapää-Dahlqvist ◽  
Kristina Lejon
Keyword(s):  
Rheumatoid Arthritis ◽  
Microrna Expression ◽  
Significant Trend ◽  
Healthy Controls ◽  
Altered Expression ◽  
First Degree Relatives ◽  
Key Points ◽  
Polymerase Chain ◽  
And Gender

Abstract Objective Recent studies have demonstrated an altered expression of certain microRNAs in patients with rheumatoid arthritis (RA) as well as their first-degree relatives (FDRs) compared to healthy controls (HCs), suggesting a role of microRNA in the progression of the disease. To corroborate this, a set of well-characterized RA families originating from northern Sweden were analyzed for differential expression of a selected set of microRNAs. Method MicroRNA was isolated from frozen peripheral blood cells obtained from 21 different families and included 26 RA patients, 22 FDRs, and 21 HCs. Expression of the selected microRNAs miR-22-3p, miR-26b-5p, miR-34a-3p, miR-103a-3p, miR-142-3p, miR-146a-5p, miR-155, miR-346, and miR-451a was determined by a two-step quantitative real-time polymerase chain reaction (qRT-PCR). Statistical analysis including clinical variables was applied. Results Out of the nine selected microRNAs that previously have been linked to RA, we confirmed four after adjusting for age and gender, i.e., miR-22-3p (p = 0.020), miR-26b-5p (p = 0.018), miR-142-3p (p = 0.005), and miR-155 (p = 0.033). Moreover, a significant trend with an intermediate microRNA expression in FDR was observed for the same four microRNAs. In addition, analysis of the effect of corticosteroid use showed modulation of miR-103a-3p expression. Conclusions We confirm that microRNAs seem to be involved in the development of RA, and that the expression pattern in FDR is partly overlapping with RA patients. The contribution of single microRNAs in relation to the complex network including all microRNAs and other molecules is still to be revealed. Key Points• Expression levels of miR-22-3p, miR-26b-5p, miR-142-3p, and miR-155 were significantly altered in RA patients compared to those in controls.• In first-degree relatives, a significant trend with an intermediate microRNA expression in FDR was observed for the same four microRNAs.

scholarly journals Detection of SNCA and FBN1 Methylation in the Stool as a Biomarker for Colorectal Cancer

2015 ◽  
Vol 2015 ◽  
pp. 1-6 ◽  
Author(s):  
Wen-han Li ◽  
Hao Zhang ◽  
Qi Guo ◽  
Xuan-di Wu ◽  
Zi-sen Xu ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Methylation Status ◽  
Good Alternative ◽  
Noninvasive Detection ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Tissue Samples ◽  
Specific Polymerase Chain Reaction ◽  
Stool Samples ◽  
Polymerase Chain

Aim.We examined the methylation status of SNCA and FBN1 genes in patients’ paired tissue and stool samples for detection of colorectal cancer (CRC).Patients and Methods. 89 DNA tissue samples (normal/cancer) and corresponding stool samples were analyzed in our study. In addition, 30 stool samples were collected as healthy controls.Results. The methylation level of those samples was measured by methylation-specific polymerase chain reaction (MSP). The result shows that compared with the paired controls, both SNCA and FBN1 were significantly hypermethylated in CRC patients in tissue samples (P<0.001). In the stool samples, hypermethylated SNCA and FBN1 were detected to be significantly higher than that in normal stool samples (P<0.001). The combined sensitivity of at least one positive among the two markers in stool samples was 84.3%, with a specificity of 93.3%. In addition, our experiment suggested that the positive rates of SNCA and FBN1 in Dukes A stage were significantly higher than that of FOBT (P=0.039;P=0.006, resp.).Conclusion. We concluded that methylation testing of SNCA and FBN1 genes in stool sample may offer a good alternative in a simple, promising, and noninvasive detection of colorectal cancer.

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