scholarly journals Gene polymorphisms in ULK1 and PIK3CA are associated with the risk of microscopic polyangiitis in the Guangxi Zhuang Autonomous Region in China

PeerJ ◽  
2021 ◽  
Vol 9 ◽  
pp. e12377
Author(s):  
Yan Zhu ◽  
Jinlan Rao ◽  
Jingsi Wei ◽  
Liu Liu ◽  
Shanshan Huang ◽  
...  
Keyword(s):  
Autoimmune Disease ◽  
Molecular Mechanisms ◽  
Microscopic Polyangiitis ◽  
Genetic Models ◽  
Autonomous Region ◽  
Guangxi Zhuang Autonomous Region ◽  
Link Type ◽  
Increased Risk ◽  
Significant Difference ◽  
Reduced Risk

Background Microscopic polyangiitis (MPA) is a systemic autoimmune disease characterized by inflammation of small- and medium-sized blood vessels. Autophagy-related protein polymorphisms are involved in autoimmune disease. The aim of this study was to evaluate the effects of single-nucleotide polymorphisms (SNPs) in the ULK1 and PIK3CA genes on the risk of MPA. Method A total of 208 patients with MPA and 211 controls in the Guangxi Zhuang Autonomous Region were recruited and analyzed. The SNPs selected were detected by polymerase chain reaction and high-throughput sequencing. The differences in allele and genotype frequency, various genetic models, and stratification analyses were evaluated, haplotype evaluation was performed after linkage disequilibrium analysis, and the interaction between gene alleles was analyzed. Results A statistically significant difference was detected in the genotypic distribution of two SNPs between the two groups: ULK1 rs4964879 (p = 0.019) and PIK3CA rs1607237 (p = 0.002). The results of the genetic models revealed that ULK1 rs4964879 and rs9481 were statistically significantly associated with an increased risk of MPA, whereas PIK3CA rs1607237 was associated with a reduced risk. The association between SNPs and MPA risk was affected by age, sex, and ethnicity. The ULK1 haplotype (G-T-A-C-G-A) and PIK3CA haplotype (T-G) were associated with a reduced risk of MPA, while the PIK3CA haplotype (C-G) was associated with an increased risk. Conclusion In this study, polymorphisms in the autophagy-related genes ULK1 and PIK3CA and their association with MPA were examined. The results showed that the polymorphisms in ULK1 (rs4964879 and rs9481) and PIK3CA (rs1607237) were significantly associated with MPA risk in the Guangxi population. However, the molecular mechanisms are still unclear; basic science research and studies with larger samples are needed to confirm our conclusions and explore the underlying mechanisms.

scholarly journals Using an asymmetric crosslinked polyethylene liner in primary total hip arthroplasty is associated with a lower risk of revision surgery

2021 ◽  
Vol 103-B (9) ◽  
pp. 1479-1487
Author(s):  
Edward T. Davis ◽  
Joseph Pagkalos ◽  
Branko Kopjar
Keyword(s):  
Aseptic Loosening ◽  
Posterior Approach ◽  
Polyethylene Liner ◽  
Anterolateral Approach ◽  
Separate Analysis ◽  
Total Hip ◽  
Joint Registry ◽  
Increased Risk ◽  
Significant Difference ◽  
Reduced Risk

Aims The aim of our study was to investigate the effect of asymmetric crosslinked polyethylene liner use on the risk of revision of cementless and hybrid total hip arthroplasties (THAs). Methods We undertook a registry study combining the National Joint Registry dataset with polyethylene manufacturing characteristics as supplied by the manufacturers. The primary endpoint was revision for any reason. We performed further analyses on other reasons including instability, aseptic loosening, wear, and liner dissociation. The primary analytic approach was Cox proportional hazard regression. Results A total of 213,146 THAs were included in the analysis. Overall, 2,997 revisions were recorded, 1,569 in THAs with a flat liner and 1,428 in THAs using an asymmetric liner. Flat liner THAs had a higher risk of revision for any reason than asymmetric liner THAs when implanted through a Hardinge/anterolateral approach (hazard ratio (HR) 1.169, 95% confidence interval (CI) 1.022 to 1.337) and through a posterior approach (HR 1.122, 95% CI 1.108 to 1.346). There was no increased risk of revision for aseptic loosening when asymmetric liners were used for any surgical approach. A separate analysis of the three most frequently used crosslinked polyethylene liners was in agreement with this finding. When analyzing THAs with flat liners only, THAs implanted through a Hardinge/anterolateral approach were associated with a reduced risk of revision for instability compared to posterior approach THAs (HR 0.561 (95% CI 0.446 to 0.706)). When analyzing THAs with an asymmetric liner, there was no significant difference in the risk of revision for instability between the two approaches (HR 0.838 (95% CI 0.633 to 1.110)). Conclusion For THAs implanted through the posterior approach, the use of asymmetric liners reduces the risk of revision for instability and revision for any reason. In THAs implanted through a Hardinge/anterolateral approach, the use of an asymmetric liner was associated with a reduced risk of revision. The effect on revision for instability was less pronounced than in the posterior approach. Cite this article: Bone Joint J 2021;103-B(9):1479–1487.

scholarly journals AB0142 ANTIPHOSPHOLIPID SYNDROME AND ATHEROSCLEROSIS

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1371.2-1371
Author(s):  
N. Stoilov ◽  
V. Boyadzhieva
Keyword(s):  
Autoimmune Disease ◽  
Carotid Artery ◽  
Antiphospholipid Syndrome ◽  
Carotid Arteries ◽  
Calcium Score ◽  
Unknown Etiology ◽  
Healthy Controls ◽  
Lipid Panel ◽  
Increased Risk ◽  
Significant Difference

Background:Antiphospholipid syndrome (APS) is a systemic autoimmune disease with unknown etiology and complex pathogenesis. Recent studies have shown that the pathogenesis of the atherosclerotic process is related to the inflammatory component of the immune response, as well as to elements of autoimmunity. A number of autoimmune rheumatic diseases, including rheumatoid arthritis (RA), SLE and APS, are characterized by accelerated atherosclerosis and therefore at increased risk of cardiovascular disease and mortality. The risk of early atherosclerosis in patients with autoimmune disease is determined by traditional risk factors, chronic generalized inflammation, and target-specific autoimmune processes. These processes are complemented by the chronic use of drugs, such as KS, which worsen BMI, lead to hyperglycemia and hyperlipidemia.Objectives:The aim of this study is to investigate the incidence of atherosclerosis at selected typical sites in patients with APS.Methods:We examined 139 patients devided in to three groups: APS, SLE and healty controls. We performed US examination of carotid atheries with IMT measeurement and Calcium score of coronary artheries and aorta. All the patients were tested for: CBC, lipid panel, liver probes, ESR, anti-CL, anti-b2GPI anti-Prothrombin antibodies and ANA screen and ANA-profile as well.Results:With the Kruskall-Wallis analysis, we found a statistically significant difference in IMT between the study groups for left (p = 0.005) and right (p = 0.014) carotid arteries. Comparative analysis between the groups showed that pathological levels of IMT (> 900 µm) in the right carotid artery were the highest in patients with antiphospholipid syndrome 15 (26.3%). In healthy controls, 3 (7.3%) were identified and no cases were reported for patients with SLE. The data for the left carotid artery (LCCA) are similar. 15 (26.3%) were registered for AFS, 4 for healthy controls (9.2%), and no patients with pathological values for IMT were registered in the SLE group. We compared the results for intima-media ticking between groups with the Chi-square test, finding a statistically significant correlation for the two carotid arteries - IMT-RCCA p = <0.001 for IMT-LCCA p = 0.002.Descriptive statistics show that the highest frequency of positive calcium score is characterized by the APS group 12 (31.6%), in patients with SLE they are 3 (15%), in healthy controls the case is 3%.In our study, the AFS group had the highest incidence of positive CaScore, and its maximum values were significantly higher than the other two groups. The maximum agatson score for patients with antiphospholipid syndrome is 908 HU (Hounsfield Units), for SLE it is 2.1 HU, for healthy controls it is 233HU.With the Kruskall-Wallis statistical analysis we examined the relationship of calcium score with the individual groups. Aortic aortic valve score was negative in all subjects. We find statistically significant differences between the calcium score groups.Conclusion:The APS group is statistically significant in both pathologic IMT and higher plaque incidence compared to healthy controls and patients with SLE without the presence of anthophospholipid antibodies.Based on the data obtained we can conclude that the antiphospholipid antibodies tested and their serum levels did not directly influence the values of the coronary artery and aortic Agatson score.Disclosure of Interests:None declared

scholarly journals Genetic Variation in Intergenic and Exonic miRNA Sequence and Risk of Multiple Sclerosis in the Isfahan Patients

2018 ◽  
pp. 477-484 ◽  
Author(s):  
Golshani Golshani ◽  
Zohreh Hojati ◽  
Ali Sharifzadeh ◽  
Vahid Shaygannejad ◽  
Mojtaba Jafarinia
Keyword(s):  
Multiple Sclerosis ◽  
Autoimmune Disease ◽  
Mirna Sequence ◽  
Amplification Refractory Mutation System ◽  
Single Nucleotide ◽  
Increased Risk ◽  
Significant Difference ◽  
Mutation System ◽  
Pcr Method ◽  
The Relationship

MicroRNAs (miRNAs), have been documented to perform a key role in the pathogenesis of multiple sclerosis (MS), a chronic inflammatory and autoimmune disease. Recent studies have shown that single nucleotide polymorphism in the sequence of the miRNA may change their production and expression which can lead to miRNA dysfunction and pathogenicity. Some studies have reported the relationship between miRNA polymorphism and the increased risk of autoimmune disease. This study was conducted to investigate the association between mir155 rs767649, mir196a2 rs11614913 and mir23a rs3745453 polymorphism and the risk of multiple sclerosis in the Iranian MS patients in Isfahan. A population of 80 patients and the same number control were selected. After DNA extraction, genotyping was performed through tetra amplification refractory mutation system-PCR method (T ARMS PCR). The frequencies of TT, TC and CC genotypes of mir23a were 46, 35 and 20% in MS patients and 42, 14 and 24 in healthy subjects respectively. These results showed that individuals carrying the genotypes of rs3745453 TC had a 2.3-fold increased risk of MS (OR=2.3, p=0.048). There was no significant difference between genotypes and allele frequency of mir155 and mir196a2 in patients and healthy controls (p>0.05). Our findings specified that CT heterozygosity in mir23a gene significantly related with risk of MS. Unlike mir155 and mir196a2, mir23a rs3745453 may have contributed to the etiology of MS in Isfahan patients. However, extensive studies are required to gain more reliable and authentic results.

Risk of venous thromboembolism following surgical treatment of superficial venous incompetence

VASA ◽  
2017 ◽  
Vol 46 (6) ◽  
pp. 484-489 ◽  
Author(s):  
Tom Barker ◽  
Felicity Evison ◽  
Ruth Benson ◽  
Alok Tiwari
Keyword(s):  
Venous Thromboembolism ◽  
Varicose Vein ◽  
Lower Incidence ◽  
Varicose Veins ◽  
Secondary Data ◽  
Foam Sclerotherapy ◽  
Increased Risk ◽  
Significant Difference ◽  
Chi Squared ◽  
One Year

Abstract. Background: The invasive management of varicose veins has a known risk of post-operative deep venous thrombosis and subsequent pulmonary embolism. The aim of this study was to evaluate absolute and relative risk of venous thromboembolism (VTE) following commonly used varicose vein procedures. Patients and methods: A retrospective analysis of secondary data using Hospital Episode Statistics database was performed for all varicose vein procedures performed between 2003 and 2013 and all readmissions for VTE in the same patients within 30 days, 90 days, and one year. Comparison of the incidence of VTEs between procedures was performed using a Pearson’s Chi-squared test. Results: In total, 261,169 varicose vein procedures were performed during the period studied. There were 686 VTEs recorded at 30 days (0.26 % incidence), 884 at 90 days (0.34 % incidence), and 1,246 at one year (0.48 % incidence). The VTE incidence for different procedures was between 0.15–0.35 % at 30 days, 0.26–0.50 % at 90 days, and 0.46–0.58 % at one year. At 30 days there was a significantly lower incidence of VTEs for foam sclerotherapy compared to other procedures (p = 0.01). There was no difference in VTE incidence between procedures at 90 days (p = 0.13) or one year (p = 0.16). Conclusions: Patients undergoing varicose vein procedures have a small but appreciable increased risk of VTE compared to the general population, with the effect persisting at one year. Foam sclerotherapy had a lower incidence of VTE compared to other procedures at 30 days, but this effect did not persist at 90 days or at one year. There was no other significant difference in the incidence of VTE between open, endovenous, and foam sclerotherapy treatments.

Interpersonal Violence and Substance Use Among Female Sexual Minorities

2019 ◽  
Author(s):  
Cort M. Dorn-Medeiros ◽  
Cass Dykeman ◽  
Timothy Bergquist
Keyword(s):  
New York ◽  
Tobacco Use ◽  
Interpersonal Violence ◽  
Sexual Minorities ◽  
Sample Population ◽  
Life Outcomes ◽  
City Community ◽  
Increased Risk ◽  
Significant Difference ◽  
Community Health Survey

This archived data study used results from the New York City Community Health Survey to explore the relationship between interpersonal violence among female sexual minorities (FSM) and their levels of alcohol and tobacco use. A total of 92 FSM were included in the sample population. There was a significant difference in the mean number of alcoholic drinks consumed between FSM who reported past experience of interpersonal violence and those who did not. No difference was found in levels of tobacco use between FSM who reported interpersonal violence and those who did not. Results of the present study support current research indicating FSM may be at increased risk for elevated alcohol use and respective negative life outcomes related to the experience of interpersonal violence.

Resolving Molecular Mechanisms of Autoimmune Disease In Primary CD4 T Cells

2019 ◽  
Author(s):  
Christophe Bourges ◽  
Abigail F. Groff ◽  
Oliver S. Burren ◽  
Chiara Gerhardinger ◽  
Kaia Mattioli ◽  
...  
Keyword(s):  
T Cells ◽  
Autoimmune Disease ◽  
Cd4 T Cells ◽  
Molecular Mechanisms

The Role of Vascular Aging in Atherosclerotic Plaque Development and Vulnerability

2019 ◽  
Vol 25 (29) ◽  
pp. 3098-3111 ◽  
Author(s):  
Luca Liberale ◽  
Giovanni G. Camici
Keyword(s):  
Atherosclerotic Plaque ◽  
Molecular Mechanisms ◽  
Driving Forces ◽  
Plaque Burden ◽  
Vascular Aging ◽  
Age Related ◽  
Plaque Development ◽  
Increased Risk ◽  
The Impact ◽  
Over Time

Background: The ongoing demographical shift is leading to an unprecedented aging of the population. As a consequence, the prevalence of age-related diseases, such as atherosclerosis and its thrombotic complications is set to increase in the near future. Endothelial dysfunction and vascular stiffening characterize arterial aging and set the stage for the development of cardiovascular diseases. Atherosclerotic plaques evolve over time, the extent to which these changes might affect their stability and predispose to sudden complications remains to be determined. Recent advances in imaging technology will allow for longitudinal prospective studies following the progression of plaque burden aimed at better characterizing changes over time associated with plaque stability or rupture. Oxidative stress and inflammation, firmly established driving forces of age-related CV dysfunction, also play an important role in atherosclerotic plaque destabilization and rupture. Several genes involved in lifespan determination are known regulator of redox cellular balance and pre-clinical evidence underlines their pathophysiological roles in age-related cardiovascular dysfunction and atherosclerosis. Objective: The aim of this narrative review is to examine the impact of aging on arterial function and atherosclerotic plaque development. Furthermore, we report how molecular mechanisms of vascular aging might regulate age-related plaque modifications and how this may help to identify novel therapeutic targets to attenuate the increased risk of CV disease in elderly people.

Association between hTERT Polymorphisms and Female Papillary Thyroid Carcinoma

2019 ◽  
Vol 14 (3) ◽  
pp. 268-279
Author(s):  
Ying Liu ◽  
Zhi Li ◽  
Xinyue Tang ◽  
Min Li ◽  
Feng Shi
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Genome Wide Association Study ◽  
Papillary Thyroid ◽  
Clinicopathologic Characteristics ◽  
Female Population ◽  
Genome Wide ◽  
Increased Risk ◽  
Significant Difference ◽  
Thyroid Cancer Risk

Background: A previous genome-wide association study showed that hTERT rs10069690 and rs2736100 polymorphisms were associated with thyroid cancer risk. Objective: This study further investigated the association between increased risk and clinicopathologic characteristics for Papillary Thyroid Carcinoma (PTC) and hTERT polymorphisms rs10069690 or rs2736100 in a Chinese female population. Methods: The hTERT genotypes of 276 PTC patients and 345 healthy subjects were determined with regard to SNPs rs10069690 and rs2736100. The association between these SNPs and the risk of PTC and clinicopathologic characteristics was investigated by logistic regression. Results: We found a significant difference between PTC and rs10069690 (Odds Ratio (OR) = 1.515; P = 0.005), but not between PTC and rs2736100. When the analysis was limited to females, rs10069690 and rs2736100 were both associated with increased risk for PTC in female individuals (OR = 1.647, P = 0.007; OR = 1.339, P = 0.041, respectively). Further haplotype analysis revealed a stimulative effect of haplotypes TC and CA of TERT rs10069690-rs2736100, which increased risk for PTC in female individuals (OR = 1.579, P = 0.014; OR = 0.726, P = 0.025, respectively). Furthermore, the heterozygote A/C of rs2736100 showed significant difference for age (OR = 0.514, P = 0.047). Conclusion: Our finding suggests that hTERT polymorphisms rs10069690 and rs2736100 are associated with increased risk for PTC in Chinese female population and rs2736100 may be related to age. Consistent with US20170360914 and US20170232075, they are expected to be a potential molecular target for anti-cancer therapy.

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