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 The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population

2020 ◽  
Vol 40 (4) ◽  
Author(s):  
Jin Li ◽  
Lifeng Jiang ◽  
Xindie Zhou ◽  
Lidong Wu ◽  
Dong Li ◽  
...  
Keyword(s):  
Rotator Cuff ◽  
Rotator Cuff Tear ◽  
Constant Score ◽  
Enzyme Linked Immunosorbent Assay ◽  
Mutant Genotype ◽  
Cuff Tear ◽  
Increased Risk ◽  
Polymerase Chain ◽  
Tear Size

Abstract Expression of proinflammatory cytokines, such as interleukin (IL)-6 (IL-6) and metalloproteases, are elevated in patients with rotator cuff tear (RCT). In order to investigate the role of IL-6 gene polymorphisms on RCT risk, we genotyped two SNPs on IL-6 gene (rs1800795 and rs1800797) in 138 RCT patients and 137 healthy controls using polymerase chain reaction (PCR) and Sanger sequencing. The IL-6 expression in shoulder joint synovial fluid was determined by using enzyme-linked immunosorbent assay (ELISA) method. The constant score and visual analog scale (VAS) were used to evaluate the clinical outcome of two s (surgicsal vs. conservative) for RCT patients. For rs1800795, individuals with the GG genotype or G allele had significantly higher risk of RCT. Elevated risk of tear size was associated with the GG genotype of the rs1800795 polymorphism. The IL-6 rs1800797 polymorphism was also associated with an increased risk of RCT, especially among female, drinkers, and individuals with B(MI) < 25 kg/m2. The elevated levels of IL-6 gene were observed among the mutant genotype of rs1800795/rs1800797 polymorphism. Surgical group is significantly better than conservative treatment from the perspective of constant score and VAS. Furthermore, CG genotype of rs1800795 polymorphism increased the constant score at 6 months in comparison with CC genotype. In conclusion, our study supports a role of IL-6 rs1800795/rs1800797 polymorphisms on increased RCT risk. The RCT patients with CG genotype of rs1800795 polymorphism have more obvious surgical treatment effects by influencing the IL-6 expression.

The glutathione S-transferase polymorphisms in a control population and in Alzheimer's disease patients

2004 ◽  
Vol 42 (3) ◽  
Author(s):  
Irena Žuntar ◽  
Svjetlana Kalanj-Bognar ◽  
Elizabeta Topic ◽  
Roberta Petlevski ◽  
Mario Štefanović ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Variants ◽  
Fragment Length Polymorphism ◽  
Glutathione S Transferase ◽  
Chain Reaction ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Polymerase Chain

AbstractIn this study, we investigated the role of glutathione S-transferase P1 (GSTP1) polymorphisms in the pathogenesis of Alzheimer's disease (AD). We genotyped the GSTP1 polymorphisms in exon 5 (A313G) and exon 6 (C341T) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 56 Croatian patients with AD and 231 controls. Distributions and frequencies of GSTP1 genetic variants were not statistically different between AD patients and healthy controls. Higher frequencies of the mutant genotypes were observed in AD patients (13% for both A313G and C341T) when compared with control subjects (7% for A313G and 8% for C341T), but association of GSTP1 GG (OR 2.057, 95% CI 0.796–5.315, p=0.094) and TT (OR 1.691, 95% CI 0.669–4.270, p=0.514) genotypes with an increased risk of AD was not confirmed by statistical analysis. The frequencies of

scholarly journals Application of Indirect Linkage Analysis for Carrier Detection of Hemophilia A in Kurdistan Region of Iraq: Usefulness of Intron 18 BclI T>A, Intron 19 HindIII C>T, and IVS7 nt27 G>A Markers

2019 ◽  
Vol 25 ◽  
pp. 107602961985454
Author(s):  
Aveen M. Raouf Abdulqader ◽  
Shwan Rachid ◽  
Ali Ibrahim Mohammed ◽  
Sarwar Noori Mahmood
Keyword(s):  
Linkage Analysis ◽  
Hemophilia A ◽  
Fragment Length Polymorphism ◽  
Direct Sequencing ◽  
Practical Method ◽  
Kurdistan Region ◽  
Factor Viii Gene ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Indirect Linkage

Hemophilia A (HA) is the most common congenital X-linked coagulopathy caused by mutations in the factor VIII gene. One in 5000 to 10 000 male persons worldwide suffer from HA. It is the archetype of high-cost, low-volume disease. Therefore, identification of carriers is crucial to avoid the birth of affected males. Tracking of the defective X chromosome through indirect linkage analysis represents the most practical method for screening for carriers in developing countries. In this study, 227 individuals from 41 families with HA and 100 normal participants were recruited from the Kurdistan region of Iraq and evaluated for intron 18 BclI, intron 19 HindIII, and IVS7 nt 27 markers by polymerase chain reaction restriction fragment length polymorphism and direct sequencing. Among the studied women, 49%, 42%, and 14% were discovered to be heterozygous for BclI, HindIII, and IVS7 markers, respectively. Using BclI, HindIII, and IVS7 markers, 56%, 46%, and 17% of the families were informative, respectively. The combined informativity of these polymorphic sites reaches 66%. The current study illustrates the effectiveness of the BclI and HindIII markers for the diagnosis of HA carriers among the Iraqi Kurdish 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.

Role of Metalloproteinases in Rotator Cuff Tear

2011 ◽  
Vol 19 (3) ◽  
pp. 207-212 ◽  
Author(s):  
Raffaele Garofalo ◽  
Eugenio Cesari ◽  
Enzo Vinci ◽  
Alessandro Castagna
Keyword(s):  
Rotator Cuff ◽  
Rotator Cuff Tear ◽  
Cuff Tear

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.

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.

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