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 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.

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 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 MUTATION C3435T IN MULTI-DRUG RESISTANCE GENE MDR1 AS PHARMACOGENETIC MARKER OF SEVERE COURSE OF BRONCHIAL ASTHMA

2012 ◽  
Vol 9 (2) ◽  
pp. 9-12
Author(s):  
Z A Mironova ◽  
V I Trofimov ◽  
Е D Iantchina ◽  
A S Ulitina ◽  
М V Dubina
Keyword(s):  
Bronchial Asthma ◽  
Restriction Analysis ◽  
Mdr1 Gene ◽  
Multi Drug Resistance ◽  
Healthy Controls ◽  
Chain Reaction ◽  
Increased Risk ◽  
Polymerase Chain ◽  
First Time ◽  
Peripheral Blood Leucocytes

Background. Early detection and treatment of severe forms of bronchial asthma (BA) is one of serious problems in clinical practice. BA is a multifactorial disease, so its progression is a result of both environmental factors and genetic predisposition. Aim of the study. To determine frequencies of genetic variants resulted from the mutation C3435T (rs1045642) in MDR1 gene among patients with different BA severity and in healthy controls. Methods. The trial included 122 patients with different severity of BA course and 103 healthy controls. Genomic DNA was extracted from peripheral blood leucocytes by routine phenol-chloroform protocol. Allelic variants were determined by polymerase chain reaction with subsequent restriction analysis with MboI restriction endonuclease. Results. For the first time association of allelic variant 3435C of MDR1 gene with BA was revealed. Differences between MDR1 genotypes distributions persisted in case of stratification BA patients according their severity courses. Severity of BA course was found to be strongly associated with 3435C allele. Conclusion. Allele 3435C and genotype 3435CC of gene MDR1 are markers of increased risk of BA progression. In patients with BA these alleles are associated with unfavorable severe course of the disease. Genotype 3435TT of gene MDR1 is a protective marker associated with favorable and well-controlled BA course.

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.

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.

scholarly journals ASSOCIATION OF ENAM C2452T POLYMORPHISM WITH HIGH RATES OF CARIES OCCURRENCE IN AN INDONESIAN POPULATION

2020 ◽  
pp. 1-4
Author(s):  
NICOLINE NICOLINE ◽  
FATIMAH BOENJAMIN PARTAKUSUMA ◽  
HEDIJANTI JOENOES ◽  
CHRISTOPHER TALBOT ◽  
ELZA IBRAHIM AUERKARI
Keyword(s):  
Risk Factor ◽  
Genetic Factors ◽  
Fragment Length Polymorphism ◽  
Control Group ◽  
Tooth Decay ◽  
Chain Reaction ◽  
Allele Distribution ◽  
Indonesian Population ◽  
Chi Squared ◽  
Polymerase Chain

Objective: Tooth decay or the caries process is a common dental problem that affects millions of people worldwide. Many risk factors are modifiable,while others are not (e.g., genetic factors). Polymorphism of the enamelin (ENAM) gene, which is required to ensure production of an essentialprotein for enamel development, may pose as a risk factor for the caries process. This study sought to investigate the possibility of ENAM C2452Tpolymorphism acting as a risk factor in the caries process.Methods: The polymerase chain reaction–restriction fragment length polymorphism method was employed to evaluate DNA samples taken from 95subjects with a high caries prevalence and 89 control subjects for ENAM C2452T polymorphism.Results: Based on Chi-squared tests, there were significant genotype and allele distribution differences between the group with a high cariesprevalence and the control group (p=0.005 and p=0.007). Polymorphism in this context may, therefore, serve as a risk factor for caries onset andprogression (OR: 3.62).Conclusion: ENAM C2452T polymorphism is related to the caries process and may constitute a risk factor.

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