scholarly journals Evaluation of variants in IL6R, TLR3, and DC-SIGN genes associated with dengue in sampled Colombian population

Biomédica ◽  
2019 ◽  
Vol 39 (1) ◽  
pp. 88-101 ◽  
Author(s):  
Efren Avendaño-Tamayo ◽  
Alex Rúa ◽  
María Victoria Parra-Marín ◽  
Winston Rojas ◽  
Omer Campo ◽  
...  
Keyword(s):  
Dengue Fever ◽  
Odds Ratio ◽  
Fragment Length Polymorphism ◽  
African Ancestry ◽  
Influential Factor ◽  
Chain Reaction ◽  
Chi Square ◽  
Allelic Combination ◽  
Increased Risk ◽  
Polymerase Chain

Introduction: Host genetics is recognized as an influential factor for the development of dengue disease.Objective: This study evaluated the association of dengue with the polymorphisms rs8192284 for gene IL6R, rs3775290 for TLR3, and rs7248637 for DC-SIGN.Materials and methods: Of the 292 surveyed subjects, 191 were confirmed for dengue fever and the remaining 101 were included as controls. The genotypes were resolved using polymerase chain reaction and restriction fragment length polymorphism (PCRRFLP). In an attempt to determine the risk (Odds Ratio) of suffering dengue fever, data were analyzed using chi-square for alleles and logistic regression for both genotypes and allelic combinations. Confidence intervals were set to 95% for all tests regardless of the adjustment by either self-identification or ancestry.Results: For Afro-Colombians, the allele rs8192284 C offered protection against dengue [OR=0.425,(0.204-0.887), p=0.020]. The alleles rs7248637 A and rs3775290 A posed, respectively, an increased risk of dengue for Afro-Colombians [OR=2.389, (1.170-4.879), p=0.015] and Mestizos [OR=2.329, (1.283-4.226), p=0.005]. The reproducibility for rs8192284 C/C [OR=2.45, (1.05-5.76), p=0.013] remained after adjustment by Amerindian ancestry [OR=2.52, (1.04-6.09), p=0.013]. The reproducibility for rs3775290 A/A [OR=2.48, (1.09-5.65), p=0.033] remained after adjustment by European [OR=2.34, (1.02-5.35), p=0.048], Amerindian [OR=2.49, (1.09-5.66), p=0.035], and African ancestry [OR=2.37, (1.04-5.41), p=0.046]. Finally, the association of dengue fever with the allelic combination CAG [OR=2.07, (1.06-4.05), p=0.033] remained after adjustment by Amerindian ancestry [OR=2.16, (1.09-4.28), p=0.028].Conclusions: Polymorphisms rs8192284 for IL6R, rs3775290 for TLR3, and rs7248637 for DC-SIGN were associated with the susceptibility to suffer dengue fever in the sampled Colombian population.

scholarly journals Investigation of the Vitamin D Receptor Polymorphisms in Acromegaly Patients

2015 ◽  
Vol 2015 ◽  
pp. 1-7 ◽  
Author(s):  
Muzaffer Ilhan ◽  
Bahar Toptas-Hekimoglu ◽  
Ilhan Yaylim ◽  
Seda Turgut ◽  
Saime Turan ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Vdr Polymorphism ◽  
Structural Alterations ◽  
Increased Risk ◽  
Significant Difference ◽  
Polymerase Chain ◽  
Vdr Polymorphisms

Objective. The genetic structural alterations in the majority of somatotroph adenomas are not clarified and the search for novel candidate genes is still a challenge. We aimed to investigate possible associations between vitamin D receptor (VDR) polymorphisms and acromegaly.Design, Patients, and Methods. 52 acromegaly patients (mean age45.7±1.9years) and 83 controls (mean age43.1±2.6years) were recruited to the study. VDR polymorphism was determined by polymerase chain reaction-based restriction fragment length polymorphism methods.Results. The distribution of VDR genotypes showed a significant difference in the frequencies of VDR FokI genotypes between patients and controls (P=0.034). VDR FokI ff genotype was significantly decreased in acromegaly patients (P=0.035) and carriers of FokI Ff genotype had a 1.5-fold increased risk for acromegaly (OR: 1.5, 95% CI: 1.07–2.1;P=0.020). IGF1 levels after treatment were significantly higher in patients carrying the Ff genotype compared to carrying ff genotype (P=0.0049). 25(OH)D3 levels were significantly lower in acromegaly patients (P<0.001).Conclusions. Our study suggests that VDR FokI genotypes might affect the development of acromegaly and VDR polymorphisms may play a role in the course of acromegaly as a consequence of altering hormonal status.

scholarly journals Interleukin-16Polymorphism Is Associated with an Increased Risk of Ischemic Stroke

2013 ◽  
Vol 2013 ◽  
pp. 1-5 ◽  
Author(s):  
Xiao-li Liu ◽  
Jian-zong Du ◽  
Yu-miao Zhou ◽  
Qin-fen Shu ◽  
Ya-guo Li
Keyword(s):  
Ischemic Stroke ◽  
Chinese Population ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Sequencing Method ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
The Relationship ◽  
Genotype And Allele Frequencies

Clinical and experimental data have demonstrated that inflammation plays fundamental roles in the pathogenesis of ischemic stroke. Interleukin-16 (IL-16) is identified as a proinflammatory cytokine that is a key element in the ischemic cascade after cerebral ischemia. We aimed to examine the relationship between theIL-16polymorphisms and the risk of ischemic stroke in a Chinese population. A total of 198 patients with ischemic stroke and 236 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing method. We found that the rs11556218TG genotype and G allele ofIL-16were associated with significantly increased risks of ischemic stroke (TG versus TT, adjusted OR = 1.88; 95% CI, 1.15–3.07; G versus T, adjusted OR = 1.54; 95% CI, 1.05–2.27, resp.). However, there were no significant differences in the genotype and allele frequencies ofIL-16rs4778889 T/C and rs4072111 C/T polymorphisms between the two groups, even after stratification analyses by age, gender, and the presence or absence of hypertension, diabetes mellitus, hypercholesterolemia, and hypertriglyceridemia. These findings indicate that theIL-16polymorphism may be related to the etiology of ischemic stroke in the Chinese population.

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.

Association ofCx43rs2071166 polymorphism with an increased risk for atrial septal defect

2017 ◽  
Vol 28 (3) ◽  
pp. 397-402 ◽  
Author(s):  
Ruoyi Gu ◽  
Wei Sheng ◽  
Xiaojing Ma ◽  
Guoying Huang
Keyword(s):  
Confidence Interval ◽  
Atrial Septal Defect ◽  
Odds Ratio ◽  
Septal Defect ◽  
Healthy Controls ◽  
Nucleotide Polymorphism ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Polymerase Chain

AbstractAtrial septal defect is one of the most common CHD. The pathogenesis of atrial septal defect still remains unknown.Cx43is the most prevalent connexin in the mammalian heart during development. Its genetic variants can cause several CHD. The aim of our study was to investigate the association of genetic variations of theCx43with sporadic atrial septal defect. A total of 450 paediatric patients were recruited, including 150 cases with atrial septal defect and 300 healthy controls. The promoter region ofCx43was analysed by sequencing after polymerase chain reaction. All data were analysed by using the Statistic Package for Social Science 19.0 software. The frequency of the single nucleotide polymorphism rs2071166 was significantly higher in atrial septal defect cases than in healthy controls. The CC genotype at rs2071166 site inCx43was correlated with an increased risk for atrial septal defect (p<0.0001, odds ratio=3.891, 95% confidence interval 1.948–7.772) and the C allele was positively correlated with atrial septal defect (p=0.007, odds ratio=1.567, 95% confidence interval 1.129–2.175). In conclusion, our results confirmed that rs2071166 inCx43may be relevant with an increased atrial septal defect risk.

scholarly journals Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear

2019 ◽  
Vol 39 (10) ◽  
Author(s):  
Kaisong Miao ◽  
Lifeng Jiang ◽  
Xindie Zhou ◽  
Lidong Wu ◽  
Yong Huang ◽  
...  
Keyword(s):  
Rotator Cuff ◽  
Rotator Cuff Tear ◽  
Fragment Length Polymorphism ◽  
Direct Sequencing ◽  
Matrix Metalloproteases ◽  
Chain Reaction ◽  
Cuff Tear ◽  
Increased Risk ◽  
Polymerase Chain

Abstract An association of Matrix Metalloproteinases-1/3 (MMP-1/3) rs1799750/rs3025058 polymorphism with increased risk of rotator cuff tear (RCT) has been reported in a Brazilian population. However, this significant association has not been confirmed in the Chinese population. Genotyping was conducted by polymerase chain reaction (PCR)-restriction fragment length polymorphism and direct sequencing. Our results demonstrated that individuals with the TT genotype had a significantly higher risk of RCT compared with those with the CC genotype. The increased risk of RCT progression was associated with the 2G allele of the rs1799750 polymorphism. No significant association was observed for genotypic and allelic frequencies of the rs3025058 polymorphism. A significant association of the MMP-1 rs1799750 polymorphism was observed with smokers, drinkers and people aged ≥60 years and non-diabetic people. Additionally, the MMP-1 rs1799750 polymorphism was associated with pre-operative stiffness in RCT patients. In conclusion, a significant correlation was identified between the MMP-1 rs1799750 polymorphism and RCT. The MMP-1 rs1799750 polymorphism might be considered as a biomarker of genetically high-risk RCT, helping to clarify the mechanism of RCT.

scholarly journals Association Of Mir-196a (Rs11614913) And Mir-499 (Rs3746444) With Ischemic Stroke An Iranian Study

2017 ◽  
pp. 20
Author(s):  
Mehrzad Pourjafar ◽  
Halimeh Zare ◽  
Maryam Kohan ◽  
Negar Azarpira
Keyword(s):  
Polymerase Chain Reaction ◽  
Ischemic Stroke ◽  
Fragment Length Polymorphism ◽  
Chain Reaction ◽  
Increased Risk ◽  
Pcr Rflp ◽  
The Common ◽  
Polymerase Chain ◽  
And Function ◽  
Restriction Fragment Length

Objective: MicroRNAs are involved in the regulation of many physiological and pathological processes, such as atherosclerosis. Genetic polymorphisms in microRNA may affect its biogenesis and function. The aim of this study was to examine whether microRNA polymorphisms (mir-196a rs11614913 and mir-499 rs3746444) contribute to the risk of ischemic stroke. Methods: Genotyping was performed in 85 patients and 105 normal control, using polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) method.Results: In respect of rs11614913, significant association was observed between CC (P=0.003; OR= 0.41; CI=0.21 – 0.79), and TT (P=0.025; OR=2.22; CI=1.04 –4.8) genotypes. The inheritance of T allele increased the risk of ischemic stroke. There was a significant association between the GA genotype frequency of rs3746444 (P=0.01; OR= 0.41; CI=0.23– 0.87). TDiscussion: The present study provided evidence that the mir-196a and mir-499 polymorphisms are associated with a significantly increased risk of ischemic stroke in Iranian population. The common genetic polymorphism in pre-microRNAs may be contributed to the pathogenesis of ischemic stroke and represented as novel markers for stroke susceptibility.     

scholarly journals Association of the -844G>A polymorphism in the catalase gene with the increased risk of essential hypertension in smokers

2016 ◽  
Vol 88 (9) ◽  
pp. 50-54 ◽  
Author(s):  
O Yu Bushueva ◽  
V P Ivanov ◽  
V N Ryzhaeva ◽  
I V Ponomarenko ◽  
M I Churnosov ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Essential Hypertension ◽  
Odds Ratio ◽  
Healthy Individuals ◽  
Chain Reaction ◽  
Predisposing Factor ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Cat Gene ◽  
Apparently Healthy

Aim. To investigate whether the functionally relevant -844G>A promotor polymorphism in the catalase (CAT) gene is associated with the development of essential hypertension (EH). Subjects and methods. The investigation enrolled 2,339 unrelated ethnic Russian people, including 1,269 EH patients and 770 apparently healthy individuals. Genotyping of CAT -844G>A (rs769214) polymorphism was performed using a TaqMan real-time polymerase chain reaction assay. Results. The -844A allele (odds ratio (OR)=1.31; 95% confidence interval (CI), 1.04 to 1.64; р=0.02) and the -844AA genotype (OR=1.41; 95% CI, 1.02 to 1.94; р=0.03) were found to be related to a higher risk of EH in the smokers. No association was found between this polymorphism and EH risk in the non-smokers. Conclusion. Smoking is a predisposing factor for development of EH in CAT -844AA genotype carriers.

scholarly journals cagA-Seropositive Strains ofHelicobacter pyloriIncrease the Risk for Gastric Cancer more than the Presence ofH pyloriAlone

2004 ◽  
Vol 18 (5) ◽  
pp. 341-343
Author(s):  
Naoki Chiba
Keyword(s):  
Gastric Cancer ◽  
Odds Ratio ◽  
Meta Analysis ◽  
Review Of The Literature ◽  
Chain Reaction ◽  
Positive Strain ◽  
Increased Risk ◽  
Polymerase Chain ◽  
H Pylori ◽  
The Relationship

Huang et al have performed a meta-analysis to determine the relationship betweencagA seropositivity (by serology and polymerase chain reaction) and the risk of gastric cancer. An extensive review of the literature identified no previous systematic overviews. The authors identified 16 studies involving 2284 cases and 2770 controls. The overall prevalence of Helicobacter pylori was 77.7% in cases and 63.1% in controls. Tests forcagA were positive in 62.8% of cases and 37.5% of controls. Thus,H pyloriandcagA seropositivity significantly increased the risk for gastric cancer, by 2.28 (95% CI 1.71 to 3.05) and 2.87 (95% CI 1.95 to 4.22), respectively. In patients withH pylori, those who were infected by acagA-positive strain had a slightly higher risk of gastric cancer, with an odds ratio of 1.64 (95% CI 1.21 to 2.24). The authors also found that patients infected withH pyloriwith or withoutcagA seropositivity had an increased risk of noncardia gastric cancer, but not of cancer of the gastric cardia. They concluded thatcagA-positive strains confer a greater risk of gastric cancer than does H pylori infection alone.

P337Homozygous polymorphism of gene transcription factor SP4 is associated with hereditary sick sinus syndrome

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
S Nikulina ◽  
V Shulman ◽  
M Voevoda ◽  
V Maksimov
Keyword(s):  
Transcription Factor ◽  
Gene Transcription ◽  
Fragment Length Polymorphism ◽  
Sick Sinus Syndrome ◽  
Functional Polymorphism ◽  
Chain Reaction ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Human Transcription Factor ◽  
Restriction Fragment Length

Abstract PURPOSE The human transcription factor SP4 has functional polymorphism on А80807Т. Our study aimed to confirm that gene transcription factor SP4 polymorphism affect hereditary sick sinus syndrome. METHODS Polymerase chain reaction-restriction fragment length polymorphism was used to screen for А80807Т. We genotyped polymorphism А80807Т of the transcription factor SP4 in 109 patients with hereditary sick sinus syndrome, 59 their healthy relatives and 196 control subjects. Structure of primers was as follows: 1) 5’-aaatgaggacaatgaaaagcaca-3’- direct (A)  2)  5’-gcctaagctgctactatttcagtg3’- reverse(A - com) 3)  5’-catttctcaattgcctgctataga-3’ – reverse (T) 4)  5’-actgttgccctttgttgcca-3’ – direct (T - common),  RESULTS Patients with the T80807Т genotype shaved associate with hereditary sick sinus syndrome  more frequently than in controls and those with А80807Т and А80807A (P &lt; 0.05). Presence of a T80807Т genotype was associated with an increased odds of having hereditary sick sinus syndrome. CONCLUSIONS Our data suggest that patients with the T80807Т genotype of the gene transcription factor SP4 are at increased risk to develop hereditary sick sinus syndrome.

COQ2 polymorphisms are not associated with increased risk of statin-induced myalgia/myopathy in the Czech population

2017 ◽  
Vol 32 (4) ◽  
Author(s):  
Jaroslav A. Hubacek ◽  
Vera Adamkova ◽  
Lukas Zlatohlavek ◽  
Lenka Steiner-Mrazova ◽  
Michal Vrablik
Keyword(s):  
Fragment Length Polymorphism ◽  
Low Doses ◽  
Chain Reaction ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain ◽  
Disease Study ◽  
Rflp Assay ◽  
Population Controls ◽  
Restriction Fragment Length

AbstractBackground:The geneMethods:Adult patients with SAMS (on low doses of atorvastatin and simvastatin)-induced myalgia/myopathy (n=278), patients on statins but without SAMS (n=293) and population (part of the post-MONICA [Multinational MONItoring of trends and determinants in CArdiovascular disease] study) controls (n=561) were genotyped (polymerase chain reaction-restriction fragment length polymorphism [PCR-RFLP] assay) for rs6535454 and rs4693075 polymorphisms within theResults:Distribution of rs6535454 in patients with SAMS (GG=51.1%, GA=40.0%, AA=8.9%) did not significantly differ (p=0.33; respectively 0.32 for codominant models of the analysis) from that in the population controls (GG=48.1%, GA=45.0%, AA=6.9%) or the SAMS-unaffected patients (GG=49.8%, GA=40.3%, AA=9.7%). Similarly, neither rs4693075 was associated with SAMS (CC=36.8%, CG=48.2%, GG=15.0% in patients suffering SAMS vs. CC=36.6%, CG=47.5%, GG=15.9 in controls and CC=35.8%, CG=48.2%, GG=15.9% in symptom-free patients, p=0.94 and 0.95 for codominant models of the analysis). Also, the haplotype distributions were not significantly different between the groups analyzed.Conclusions:The polymorphisms of the

Sign in / Sign up

Export Citation Format

Share Document