scholarly journals Meta-analysis of FOXP3 gene rs3761548 and rs2232365 polymorphism and multiple sclerosis susceptibility

2019 ◽  
Author(s):  
Yijian Zhang ◽  
Junxin Zhang ◽  
Hao Liu ◽  
Fan He ◽  
Angela Chen ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Gene Polymorphism ◽  
Meta Analysis ◽  
Significant Risk ◽  
Recessive Model ◽  
Dominant Model ◽  
Foxp3 Gene ◽  
The Central Nervous System ◽  
The Impact ◽  
Strength Of Association

Abstract Background: Multiple sclerosis (MS) is a common autoimmune disease of the central nervous system (CNS), and is associated with genetic factors. FOXP3 gene polymorphism has been reported as the risk factor for MS, however, previous studies have showed conflicting results. The purpose of this study is to investigate the impact of FOXP3 gene polymorphism on the MS susceptibility through a meta-analysis. Methods: Pubmed, Embase, library of Cochrane, and Web of Science were used to search the eligible articles up to 1 Oct 2018. The odds ratio (ORs) and its 95 % confidence intervals (CI) were used to evaluate the strength of association. Allele model, homozygote model, heterozygote model, dominant model, and recessive model were used to evaluate the association between FOXP3 gene polymorphism and MS. Results: A total of 5 studies contained 1276 MS patients and 1447 controls (for rs3761548) and 600 MS patients and 640 controls (for rs2232365) were enrolled in this meta-analysis. The association showed significant differences in allele and dominant model for rs3761548 polymorphism. In addition, a clear tendency to significance was detected in homozygote and recessive model for rs3761548 (p = 0.052). Subgroup analysis indicated a significant risk of MS in all genotype models but heterozygotes in Asians. Conclusion: FOXP3 gene polymorphism rs3761548 was associated with a higher MS risk, especially in Asians. This conclusion needs to be validated in more large samples and multiracial studies. Keywords: FOXP3 gene, single nucleotide polymorphism, multiple sclerosis, meta-analysis.

scholarly journals Roles of Osteopontin Gene Polymorphism (rs1126616), Osteopontin Levels in Urine and Serum, and the Risk of Urolithiasis: A Meta-Analysis

2015 ◽  
Vol 2015 ◽  
pp. 1-9 ◽  
Author(s):  
Xiao Li ◽  
Kang Liu ◽  
Yongsheng Pan ◽  
Jing Zhang ◽  
Qiang Lv ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Meta Analysis ◽  
Recessive Model ◽  
Large Sample Size ◽  
Increased Risk ◽  
Mean Differences ◽  
Strength Of Association ◽  
Urine And Serum ◽  
Normal Controls ◽  
Increased Susceptibility

Objective. Previous studies have investigated the relationships between osteopontin gene polymorphism rs1126616 and OPN levels and urolithiasis, but the results were controversial. Our study aimed to clarify such relationships.Methods. A meta-analysis was performed by searching the databases Pubmed, Embase, and Web of Science for relevant studies. Crude odds ratios (ORs) or standardised mean differences with 95% confidence intervals (CIs) were calculated to evaluate the strength of association. Publication bias was estimated using Begg’s funnel plots and Egger’s regression test.Results. Overall, a significantly increased risk of urolithiasis was associated with OPN gene polymorphism rs1126616 for all the genetic models except recessive model. When stratified by ethnicity, the results were significant only in Turkish populations. For OPN level association, a low OPN level was detected in the urine of urolithiasis patients in large sample size subgroup. Results also indicated that urolithiasis patients have lower OPN level in serum than normal controls.Conclusion. This meta-analysis revealed that the T allele of OPN gene polymorphism increased susceptibility to urolithiasis. Moreover, significantly lower OPN levels were detected in urine and serum of urolithiasis patients than normal controls, thereby indicating that OPN has important functions in the progression of urolithiasis.

scholarly journals Mannose-binding lectin gene polymorphism and the susceptibility of sepsis: A meta-analysis

2021 ◽  
Author(s):  
Zhihua Hu ◽  
Shaowen Cheng ◽  
Xini Liu ◽  
Lina Xian ◽  
Xinyuan Liang ◽  
...  
Keyword(s):  
Gene Polymorphism ◽  
Publication Bias ◽  
Meta Analysis ◽  
Relevant Literature ◽  
Recessive Model ◽  
Mannose Binding Lectin ◽  
Dominant Model ◽  
Mannose Binding ◽  
Binding Lectin ◽  
Allele Model

Abstract Objective To assess the association between the Mannose-binding lectin (MBL) gene polymorphism and the susceptibility to sepsis using a meta-analysis.Methods The publications were searched on PubMed, Embase, and Web of Science databases up to December 1, 2019 for relevant literature. Results A total of 32 studies (21 adult and 11 pediatric studies) were selected for analysis. Overall, in the three models of MBL +54 A/B gene polymorphisms, namely the dominant model BB + AB vs. AA (p = 0.03), the recessive model BB vs. AB + AA (p < 0.00001), and the allele model B vs. A (p = 0.04), MBL +54A/B was significantly related to the risk of sepsis. In the adult group, the MBL A/O gene polymorphism was associated with the risk of sepsis in the dominant model AO + OO vs. AA (p = 0.006) as well as in the allele model O vs. A (p = 0.04). The MBL +54A/B gene polymorphism was significantly related to the risk of sepsis in the recessive model and, therefore, may increase the risk of sepsis. In the pediatric group, no polymorphic loci were significantly associated with sepsis in any of the three models. The results of the publication bias test demonstrated no publication bias in an unadjusted estimate of the relationship between MBL A/O and -211Y/X gene polymorphism and sepsis.

scholarly journals Lack of association between matrix metalloproteinase-1 gene rs1799750 polymorphism and osteoarthritis susceptibility: a meta-analysis

2019 ◽  
Vol 39 (4) ◽  
Author(s):  
Lei Peng ◽  
Jie Bin ◽  
Yang-chao Ou ◽  
Li-xin Zhu ◽  
Ji-ping Lu
Keyword(s):  
Gene Polymorphism ◽  
Matrix Metalloproteinase ◽  
Meta Analysis ◽  
Promoter Polymorphism ◽  
Case Control ◽  
Recessive Model ◽  
Dominant Model ◽  
Case Control Studies ◽  
Analysis Study ◽  
Matrix Metalloproteinase 1

Abstract Background. A relationship between matrix metalloproteinase-1 (MMP-1)-1607 (rs1799750) gene polymorphism and osteoarthritis (OA) susceptibility was reported in the Bioscience Reports journal; however, these results were inconsistent. To evaluate the specific relationship, we used a meta-analysis study to clarify the controversy. Methods. The relevant articles were retrieved on 20 October 2018 from PubMed, Elsevier, Springer, Ebase (Ovid), and Google Scholar. The number of alleles and genotypes for MMP-1 was obtained. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to estimate the association between MMP-1-1607 (rs1799750) 1G/2G promoter polymorphism and OA, while the Egger’s test was used to assess heterogeneity among studies and publication bias. All statistical analyses were conducted using STATA 12.0 software. Results. A total of six case–control studies covering 1133 cases and 1119 controls were included in the final meta-analysis. There was no significant association between MMP-1-1607 1G/2G promoter polymorphism and OA in all genetic models (2G versus 1G: OR = 1.12, 95% CI = 0.78–1.60; 1G/2G versus 1G/1G: OR  = 0.73, 95% CI = 0.32–1.67; 2G/2G versus 1G/1G: OR  =  1.31, 95% CI = 0.57–2.98; the recessive model: OR  =  1.23, 95% CI = 0.63-2.41; and the dominant model: OR  =  1.25, 95% CI = 0.79–1.97). We obtained similar results for the subgroup analysis using ethnicity and type of disease. Conclusion. We systematically investigated the association between MMP-1-1607 (rs1799750) 1G/2G polymorphism and OA susceptibility; however, the results show no correlation.

scholarly journals The roles of ANRIL polymorphisms in coronary artery disease: a meta-analysis

2019 ◽  
Vol 39 (12) ◽  
Author(s):  
Lina Hu ◽  
Guoyi Su ◽  
Xia Wang
Keyword(s):  
Coronary Artery Disease ◽  
Coronary Artery ◽  
Meta Analysis ◽  
Additive Model ◽  
Recessive Model ◽  
Dominant Model ◽  
Non Coding Rna ◽  
Artery Disease ◽  
Strength Of Association ◽  
Allele Model

Abstract Background: The relationship between antisense non-coding RNA (ncRNA) in the INK4 locus (ANRIL) polymorphisms and coronary artery disease (CAD) remains inconclusive. Thus, we conducted this meta-analysis to better evaluate the roles of ANRIL polymorphisms in CAD. Methods: Systematic literature search of PubMed, Medline, and Embase was performed to identify potential relevant articles. Odds ratios (ORs) and 95% confidence intervals (CIs) were calculated to estimate the strength of association. Results: Fifteen studies were finally enrolled for analyses. Overall analyses suggested that rs1333040 (dominant model: P&lt;0.0001; recessive model: P&lt;0.0001; allele model: P&lt;0.0001), rs1333049 (dominant model: P=0.02; allele model: P=0.02) and rs2383207 (additive model: P=0.004) polymorphisms were significantly associated with the risk of CAD. Further subgroup analyses showed that rs1333040, rs1333049, and rs2383207 polymorphisms were significantly correlated with the risk of CAD in East Asians, rs2383206 and rs10757274 polymorphisms were significantly correlated with the risk of CAD in West Asians, while rs2383206, rs10757274, and rs10757278 polymorphisms were significantly correlated with the risk of CAD in Caucasians. Conclusion: Our findings indicated that rs1333040, rs1333049, rs2383206, rs2383207, rs10757274, and rs10757278 polymorphisms might serve as genetic biomarkers of CAD in certain ethnicities.

scholarly journals The impact of physical exercise on the fatigue symptoms in patients with multiple sclerosis: a systematic review and meta-analysis

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Nazanin Razazian ◽  
Mohsen Kazeminia ◽  
Hossein Moayedi ◽  
Alireza Daneshkhah ◽  
Shamarina Shohaimi ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Systematic Review ◽  
Physical Exercise ◽  
Meta Analysis ◽  
The Impact

scholarly journals Impact of maternal supplementation with probiotics during pregnancy on atopic eczema in childhood – a meta-analysis

2011 ◽  
Vol 107 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Katja Doege ◽  
Donata Grajecki ◽  
Birgit-Christiane Zyriax ◽  
Elena Detinkina ◽  
Christine zu Eulenburg ◽  
...  
Keyword(s):  
Atopic Eczema ◽  
Data Extraction ◽  
Meta Analysis ◽  
Significant Risk ◽  
Controlled Trials ◽  
Bacterial Strains ◽  
Double Blind ◽  
Double Blind Placebo ◽  
Study Selection ◽  
The Impact

In the present study, we sought to conduct a literature review of randomised, double-blind, placebo-controlled trials, which assessed the impact of probiotics intake during pregnancy on the development of eczema in children. A meta-analysis was conducted for comparison of the development of atopic eczema in children whose mothers took probiotics during pregnancyv.placebo. Study selection, quality appraisal and data extraction were performed independently and in duplicate. The studies were rated according to their size in order to calculate the influence of individual studies on the meta-analysis. A total of seven randomised, double-blind, placebo-controlled trials, published between 2001 and 2009, were selected from the PubMed and Ovid databases for the meta-analysis. The meta-analysis was performed with statistical software Stata/SE11.0. The completed meta-analysis of the seven studies shows a significant risk reduction for atopic eczema in children aged 2–7 years by the administration of probiotics during pregnancy (reduction 5·7 %;P = 0·022). However, this effect was only significant for lactobacilli (reduction 10·6 %;P = 0·045), but not for a mixture of various bacterial strains as probiotics (difference 3·06 %,P = 0·204). In conclusion, the meta-analysis shows that the administration of lactobacilli during pregnancy prevents atopic eczema in children aged from 2 to 7 years. However, a mixture of various bacterial strains does not affect the development of atopic eczema, independent of whether they contain lactobacilli or not.

FokI polymorphism of the vitamin D receptor (VDR) gene and susceptibility to tuberculosis: evidence through a meta-analysis

2021 ◽  
Author(s):  
Upendra Yadav ◽  
Pradeep Kumar ◽  
Vandana Rai
Keyword(s):  
Vitamin D ◽  
Vitamin D Receptor ◽  
Meta Analysis ◽  
Receptor Gene ◽  
Asian Population ◽  
Recessive Model ◽  
Dominant Model ◽  
Vdr Gene ◽  
Exact Relation ◽  
Significance Level

Abstract Background: Tuberculosis is one of the top ten causes of deaths worldwide. The deficiency of vitamin D was reported to be associated with the increased susceptibility of tuberculosis. Various previous reports were published to check the association of FokI polymorphism of the vitamin D receptor gene with tuberculosis risk. But their results were inconsistent so, we performed a meta-analysis to know the exact relation of the two.Methods: Different databases were screened up to November, 2020 with the keywords “Vitamin D receptor”, “VDR”, and “FokI”, along with “Tuberculosis” and “TB” to find the suitable articles. All the statistical analyses were performed by the Open Meta-Analyst program and all p-values were two-tailed with a significance level of 0.05.Results: No statistically significant association was observed in the allele contrast model (ORfvs.F= 1.11, 95%CI= 0.99-1.24, p= 0.05, I2= 73.46%), in the dominant model (ORff+Ffvs.FF= 1.11, 95%CI= 0.96-1.28, p= 0.14, I2= 71.39%), and in the co-dominant model (ORFfvs.FF= 1.05, 95%CI= 0.92-1.21, p= 0.41, I2= 65.97%). However, a significant association was found in the homozygote model (ORffvs.FF= 1.32, 95%CI= 1.03-1.69, p= 0.02, I2= 67.02%) and in the recessive model (ORFF+Ff vs.ff= 1.26, 95%CI= 1.03-1.54, p= 0.02, I2= 58.01%). Further analysis was performed on the bases of the ethnicity. In Asian population a significant association was found in the homozygote model (ORffvs.FF= 1.57, 95%CI= 1.12-2.21, p= 0.008, I2= 70.37%) and in the recessive model (ORFF+Ff vs.ff= 1.43, 95%CI= 1.08-1.89, p= 0.01, I2= 63.13%).Conclusion: In conclusion, a significant association of FokI with tuberculosis susceptibility was found in the overall analysis and in the Asian population.

scholarly journals Validation and cross-cultural adaptation of sexual dysfunction modified scale in multiple sclerosis for Brazilian population

2015 ◽  
Vol 73 (8) ◽  
pp. 681-687 ◽  
Author(s):  
Raquel Ataíde Peres da Silva ◽  
Guilherme Sciascia do Olival ◽  
Lívia Palma Stievano ◽  
Vania Balardin Toller ◽  
Sergio Semeraro Jordy ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Sexual Dysfunction ◽  
Cultural Adaptation ◽  
Chronic Inflammatory Disease ◽  
Cross Cultural ◽  
Brazilian Population ◽  
Control Group ◽  
Cross Cultural Adaptation ◽  
The Central Nervous System ◽  
The Impact

Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system (CNS). These patients suffer from various comorbidities, including sexual dysfunction (SD). The lesions of MS may affect regions of the CNS along the pathway of sexual response. The Multiple Sclerosis Intimacy and Sexuality Questionnaire-19 (MSISQ-19) is a scale that assesses sexual dysfunction. Adapt and validate the MSISQ-19 to Brazilian patients with MS. 204 individuals were evaluated, 134 patients with MS and 70 healthy persons for the control group. It was determined reproducibility, validity, internal consistency and sensitivity of the MSISQ-19-BR. Among patients with MS, 54.3% of male and 71.7% of female presented some kind of SD. In the control group the results were 12.5% and 19.5%, respectively. The MSISQ-19-BR is reproducible, reliable and valid for the Brazilian population and may be used as a tool for assessing the impact of sexual dysfunction in patients with MS.

The impact of hypoxia on blood-brain, blood-CSF and CSF-brain barriers

2021 ◽  
Author(s):  
Jeff F. Dunn ◽  
Albert M Isaacs
Keyword(s):  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Cellular Structures ◽  
Bacterial Toxin ◽  
Blood Brain ◽  
High Altitude Cerebral Edema ◽  
The Central Nervous System ◽  
Neurological Conditions ◽  
The Impact ◽  
Brain Barriers

The blood-brain barrier (BBB), blood-cerebrospinal fluid barrier (BCSFB) and CSF-brain barriers (CSFBB) are highly regulated barriers in the central nervous system comprising of complex multi-cellular structures that separate nerves and glia from blood and cerebrospinal fluid, respectively. Barrier damage has been implicated in the pathophysiology of diverse hypoxia-related neurological conditions including stroke, multiple sclerosis, hydrocephalus and high-altitude cerebral edema. Much is known about damage to the BBB in response to hypoxia but much less is known about the BCSFB and CSFBB. Yet it is known that these other barriers are implicated in damage after hypoxia or inflammation. In the 1950s, it was shown that the rate of radionucleated human serum albumin passage from plasma to CSF was 5-times higher during hypoxic than normoxic conditions in dogs, due to blood-CSF barrier disruption. Severe hypoxia due to administration of the bacterial toxin, lipopolysaccharide (LPS) is associated with disruption of the CSFBB. This review discusses the anatomy of the BBB, BCSFB and CSFBB, and the impact of hypoxia and associated inflammation on the regulation of those barriers.

P4459The influence of the polymorphism BUD13-ZNF259 rs964184 on coronary disease according to age

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Pereira ◽  
M Mendonca ◽  
J A Sousa ◽  
F Mendonca ◽  
M Neto ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Tyrosine Kinase ◽  
Coronary Disease ◽  
Age Groups ◽  
Significant Risk ◽  
Cellular Level ◽  
Dominant Model ◽  
Coronary Patients ◽  
The Impact ◽  
Cad Risk

Abstract A recent GWAS study found a significant association between the BUD13-ZNF259 rs964184 polymorphism, dyslipidemia and the onset of coronary disease (CAD). This variant encoding zinc finger protein (ZPR1) interacts with the receptor tyrosine kinase at cellular level, increasing oxidative stress, inflammatory response and atherogenesis. There are no studies of the effect of this variant on the Portuguese population. Objective Investigate the association of BUD13-ZNF259 rs964184 with dyslipidemia and its impact on CAD risk. Evaluate its impact in different age groups of our population. Methods A case-control study was performed with 3050 subjects (1619 coronary patients with 53.3±8 years; 78.9% male and 1431 controls with 52.8±8 years; 76.6% male) from the GENEMACOR study population. Traditional risk factors (smoking, dyslipidemia, diabetes, family history, hypertension, body mass index, alcohol consumption, physical inactivity) and others considered new, such as creatinine clearance, pulse wave velocity, homocysteine, fibrinogen, lipoprotein (a), APOB and PCR (hs) were investigated. BUD13-ZNF259 variant was genotyped and analyzed using the dominant model (CG + GG vs. CC). Bivariate and multivariate analyzes (logistic regression) were used to estimate the ORs and 95% CI, after adjusting for potential confounding factors, in 3 different age groups (<45; 45–55; >55). Results BUD13-ZNF259 polymorphism presented an independent and significant risk of CAD (OR=1.58; 95% CI: 1.07–2.32; p=0.019) only in the group of young coronary patients <45 years (n=482 patients), as well as dyslipidemia (OR=2.04; 95% CI: 1.26–3.31; p=0.003). After binary logistic regression entering with the interaction between dyslipidemia and the dominant model ZNF259 (CG + GG vs. CC), we verified an association with CAD risk (OR= 1.78; 95% CI: 1.08–2.95; p=0.025). Conclusion BUD13-ZNF259 rs964184 variant showed a significant risk for the onset of CAD in the young population (<45 years). The impact of the interaction of ZPR1 protein with tyrosine kinase (Syk) at the cellular level seems to be more relevant in young patients. This aspect may represent a possible prophylactic and therapeutic target, especially in coronary disease in young people.

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