scholarly journals Genetic Polymorphisms ofIL1B, IL6,andTNFαin a Chinese Han Population with Pulmonary Tuberculosis

2018 ◽  
Vol 2018 ◽  
pp. 1-10 ◽  
Author(s):  
Shouquan Wu ◽  
Yu Wang ◽  
Miaomiao Zhang ◽  
Saurav S. Shrestha ◽  
Minggui Wang ◽  
...  
Keyword(s):  
Pulmonary Tuberculosis ◽  
Protective Factor ◽  
Disease Risk ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Latent Tb ◽  
Cytokine Gene Polymorphisms ◽  
Latent Tb Infection ◽  
The Relationship

Background. The factors that predispose to pulmonary tuberculosis (PTB) are not fully understood. Previous studies have shown that cytokine gene polymorphisms were associated with PTB.Objectives. In this study, we have investigated the relationship betweenILB,IL6,andTNFαpolymorphisms and a predisposition toMycobacterium tuberculosis(MTB) infection and PTB.Methods. A total of 209 cases of PTB, 201 subjects with latent TB infection (LTBI), and 204 healthy controls (HCS) were included in this study. Logistic regression analyses under allelic, homozygous, and heterozygous models were used to calculatePvalues, odds ratios (ORs), and 95% confidence intervals (CIs) for assessing the association between single nucleotide polymorphisms (SNPs) and disease risk, adjusting for sex and age. Genotyping was conducted using the improved multiplex ligase detection reaction (iMLDR) method.Results. When comparing PTB patients with LTBI subjects, significant associations with disease development were observed for SNPs ofIL6andTNFα. When comparing LTBI subjects with HCS,IL1Bpolymorphisms were significantly associated with LIBI. Haplotype analyses suggested that the CGG haplotype ofIL1Bwas associated with an increased risk of PTB (P=0.039, OR = 1.34, 95% CI: 1.01–1.76), while the TTGCG haplotype ofTNFαwas a protective factor against PTB (P=0.039, OR = 0.66, 95% CI: 0.44–0.98).Conclusion. Our study demonstrated thatIL1Bvariants were related to LTBI andIL6andTNFαvariants were associated with PTB.

scholarly journals Changing Concepts of “Latent Tuberculosis Infection” in Patients Living with HIV Infection

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Stephen D. Lawn ◽  
Robin Wood ◽  
Robert J. Wilkinson
Keyword(s):  
Hiv Infection ◽  
Metabolic Activity ◽  
Disease Risk ◽  
Hiv Coinfection ◽  
Increased Risk ◽  
Host Pathogen ◽  
Risk Of Progression ◽  
Latent Tb ◽  
Latent Tb Infection ◽  
The Impact

One third of the world’s population is estimated to be infected withMycobacterium tuberculosis, representing a huge reservoir of potential tuberculosis (TB) disease. Risk of progression to active TB is highest in those with HIV coinfection. However, the nature of the host-pathogen relationship in those with “latent TB infection” and how this is affected by HIV coinfection are poorly understood. The traditional paradigm that distinguishes latent infection from active TB as distinct compartmentalised states is overly simplistic. Instead the host-pathogen relationship in “latent TB infection” is likely to represent a spectrum of immune responses, mycobacterial metabolic activity, and bacillary numbers. We propose that the impact of HIV infection might better be conceptualised as a shift of the spectrum towards poor immune control, higher mycobacterial metabolic activity, and greater organism load, with subsequent increased risk of progression to active disease. Here we discuss the evidence for such a model and the implications for interventions to control the HIV-associated TB epidemic.

scholarly journals Association between Long noncoding RNA rs944289 and rs7990916 polymorphisms and the risk of colorectal cancer in a Chinese population

2021 ◽  
Author(s):  
Yan Wang ◽  
Zhiyuan Qiu ◽  
Guangyu Tian ◽  
Qianqian Zhu ◽  
Zhao Zhang ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Logistic Regression ◽  
Chinese Population ◽  
Noncoding Rna ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Increased Risk ◽  
Union Hospital ◽  
Medical University ◽  
The Relationship

Abstract Long non-coding RNAs (LncRNAs) play vital roles in the tumorigenesis of many cancers. Single nucleotide polymorphisms (SNPs) of the lncRNA also play vital roles in tumorigenesis. We explored lncRNA rs944289 and rs7990916 polymorphisms and analyzed the relationship between these lncRNA polymorphisms with the colorectal cancer (CRC) risk in a Chinese population. We recruited 1,003 CRC patients from the Affiliated People’s Hospital of Jiangsu University and the Fujian Medical University Union Hospital from October 2014 to August 2017. Genomic DNA was extracted using a DNA Kit from lymphocytes of peripheral blood and the genotyping was performed with a SNPscan method. We found that the rs944289 TT homozygote was associated with the decreased CRC risk. However, there was no statistically significant association between lncRNA rs7990916 polymorphism and the CRC risk. LncRNA rs944289 TT decreased the CRC risk in the subgroup of female by logistic regression, male, age≥61, without alcohol intake, smoking and BMI≥24. The subgroup analysis revealed that lncRNA rs7990916 was not associated with the CRC risk except for age<61. Logistic regression analysis revealed that the lncRNA rs944289 TT homozygote was associated with the increased risk of rectum cancer (TT vs. CC+CT: adjusted OR=1.29, 95% CI: 1.10-1.66, P=0.041) or colon cancer. In summary, we proved that the lncRNA rs944289 might be significantly related to the decreased CRC risk in the Chinese Han populations and lncRNA rs7990916 was not associated with the CRC risk except for patients of age<61. In the future, studies with larger samples should be conducted to validate our results.

scholarly journals Association between AXIN1 Gene Polymorphisms and Bladder Cancer in Chinese Han Population

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Qin Li ◽  
Peng Zhang ◽  
Yanyun Wang ◽  
Yan Zhang ◽  
Kai Li ◽  
...  
Keyword(s):  
Bladder Cancer ◽  
Gene Polymorphisms ◽  
Protective Factor ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Potential Association ◽  
Increased Risk ◽  
Pcr Rflp ◽  
Poor Differentiation ◽  
Muscle Invasive

Background. Previous evidence has indicated that the reduction of axis inhibition protein 1 (AXIN1) expression is related with the poor differentiation of non-small-cell lung cancer (NSCLC). However, the potential association between AXIN1 and bladder cancer (BC) is unknown. We aimed to initially explore the relevance of AXIN1 gene polymorphisms (rs12921862 C/A, rs1805105 T/C, and rs370681 C/T) and BC. Methods. Three hundred and sixteen BC patients and 419 healthy controls had been enrolled. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping three tag single-nucleotide polymorphisms (SNPs) of AXIN1. The SNPstats online analysis software and SPSS software were used for statistical analysis. Results. Our data revealed that three tag SNPs were associated with an increased risk of BC (rs12921862: P<0.001, OR 95%CI=4.61 (3.13-6.81); rs1805105: P=0.046, OR 95%CI=1.35 (1.00-1.82); and rs370681: P=0.004, OR 95%CI=1.56 (1.15-2.10)). For rs12921862, A allele was an independently protective factor which correlated with a better prognosis in non-muscle-invasive bladder cancer (NMIBC) patients (P=0.03, OR 95%CI=0.10 (0.01-0.84)). Stratification analysis demonstrated that rs370681 polymorphism was related with high-grade bladder cancer (P=0.04, OR 95%CI=1.85 (1.04-3.23)). Conclusion. The AXIN1 gene polymorphisms might implicate in BC risk, and rs12921862 could be a potential forecasting factor for prognosis of BC patients.

scholarly journals Polymorphisms of the STAT4 gene in the pathogenesis of tuberculosis

2018 ◽  
Vol 38 (4) ◽  
Author(s):  
Shouquan Wu ◽  
Minggui Wang ◽  
Yu Wang ◽  
Miaomiao Zhang ◽  
Jian-Qing He
Keyword(s):  
Disease Risk ◽  
Inflammatory Diseases ◽  
Signal Transducer ◽  
Nucleotide Polymorphisms ◽  
Bonferroni Correction ◽  
Single Nucleotide ◽  
P Values ◽  
Ltbi Group ◽  
Latent Tb ◽  
Latent Tb Infection

The signal transducer and activator of transcription 4 (STAT4) gene encodes a transcription factor that transmits signals induced by several cytokines which play critical roles in the development of autoimmune and chronic inflammatory diseases. In the present study, we have investigated the association between STAT4 polymorphisms and a predisposition to Mycobacterium tuberculosis (MTB) infection and pulmonary tuberculosis (PTB). In the present study, a total of 209 cases of PTB, 201 subjects with latent TB infection (LTBI), and 204 healthy controls (HC) were included. Logistic regression analyses were used to calculate P-values, odds ratios (ORs), and 95% confidence intervals (CIs) for assessing the association between single nucleotide polymorphisms (SNPs) and disease risk. We used Bonferroni correction to adjust the P-values. Genotyping was conducted using the improved multiplex ligase detection reaction (iMLDR) method. For the rs7574865 polymorphism, the GT genotype is less frequent in the LTBI group compared with HC (P=0.028, OR = 0.62; 95%CI: 0.40–0.95). In addition, the prevalence of the rs897200 CC genotype was lower in the PTB cases compared with LTBI individuals (P=0.039, OR = 0.54; 95%CI: 0.30–0.97). However, no SNPs within STAT4 were associated with PTB or LTBI after Bonferroni correction. Our study demonstrated that STAT4 variants were not related to LTBI and PTB.

scholarly journals Polymorphism of IL37 gene as a protective factor for autoimmune thyroid disease

2015 ◽  
Vol 55 (3) ◽  
pp. 209-218 ◽  
Author(s):  
Ni Yan ◽  
Shuai Meng ◽  
Rong-Hua Song ◽  
Qiu Qin ◽  
Xuan Wang ◽  
...  
Keyword(s):  
Thyroid Disease ◽  
Autoimmune Thyroid Disease ◽  
Protective Factor ◽  
Protective Role ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Gender Stratification ◽  
Autoimmune Thyroid ◽  
Increased Risk

Autoimmune thyroid disease (AITD) comprises Graves' disease (GD) and Hashimoto's thyroiditis (HT). IL37 has been recently proved to be a natural suppressor for innate immunity and acquired immunity. Therefore, this study was conducted to identify the association of IL37 genetic polymorphisms with AITD in Chinese Han population. Polymorphisms of rs3811046/rs3811047/rs2723176/rs272186 in the IL37 gene were assessed in a case–control study comprising 701 GD patients, 301 HT patients and 939 controls. Genetic variants were genotyped by multiplex polymerase chain reaction and ligase detection reaction. The frequencies of the minor allele A of rs2723176 and A of rs2723186 were significantly lower in the GD patients than in the controls (P=0.014, OR=0.774; P=0.014, OR=0.777). After gender stratification, the rs3811046 G allele and the rs3811047/rs2723186 A allele were both significantly associated with a decreased risk of GD in female patients (P=0.030, OR=0.777; P=0.023, OR=0.774; P=0.029, OR=0.761). However, none of the four single nucleotide polymorphisms of IL37 gene showed any significant association with HT. Moreover, haplotype analysis revealed the GCG haplotype conferred increased risk for GD as a whole and in female GD patients (OR=1.213; OR=1.320). The ACG haplotype was associated with an increased risk of HT as a whole (OR=1.567) and in male GD patients (OR=1.820). In contrast, the AAA haplotype showed a protective role for GD as a whole (OR=0.760) and in female GD patients (OR=0.765). Our study strongly supports that the IL37 gene variants are associated with the susceptibility to AITD.

scholarly journals The influence of single nucleotide polymorphisms of NOD2 or CD14 on the risk of Mycobacterium tuberculosis diseases: a systematic review

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Juan M. Cubillos-Angulo ◽  
Catarina D. Fernandes ◽  
Davi N. Araújo ◽  
Cristinna A. Carmo ◽  
María B. Arriaga ◽  
...  
Keyword(s):  
Systematic Review ◽  
Mycobacterium Tuberculosis ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Quality Scale ◽  
Increased Risk ◽  
Reported Data ◽  
The Relationship

Abstract Background Tuberculosis (TB) is still one of the leading causes of death worldwide. Genetic studies have pointed to the relevance of the NOD2 and CD14 polymorphic alleles in association with the risk of diseases caused by Mycobacterium tuberculosis (Mtb) infection. Methods A systematic review was performed on PubMed, EMBASE, Scientific Electronic Library Online (SciELO), and Literatura Latino-Americana e do Caribe em Ciências da Saúde (Lilacs) to examine the association between single nucleotide polymorphisms (SNP) and risk of Mtb diseases. Study quality was evaluated using the Newcastle-Ottawa Quality Scale (NOQS), and the linkage disequilibrium was calculated for all SNPs using a webtool (Package LDpop). Results Thirteen studies matched the selection criteria. Of those, 9 investigated CD14 SNPs, and 6 reported a significant association between the T allele and TT genotypes of the rs2569190 SNP and increased risk of Mtb diseases. The genotype CC was found to be protective against TB disease. Furthermore, in two studies, the CD14 rs2569191 SNP with the G allele was significantly associated with increased risk of Mtb diseases. Four studies reported data uncovering the relationship between NOD2 SNPs and risk of Mtb diseases, with two reporting significant associations of rs1861759 and rs7194886 and higher risk of Mtb diseases in a Chinese Han population. Paradoxically, minor allele carriers (CG or GG) of rs2066842 and rs2066844 NOD2 SNPs were associated with lower risk of Mtb diseases in African Americans. Conclusions The CD14 rs2569190 and rs2569191 polymorphisms may influence risk of Mtb diseases depending on the allele. Furthermore, there is significant association between NOD2 SNPs rs1861759 and rs7194886 and augmented risk of Mtb diseases, especially in persons of Chinese ethnicity. The referred polymorphisms of CD14 and NOD2 genes likely play an important role in risk of Mtb diseases and pathology and may be affected by ethnicity. Systematic review registration CRD42020186523

scholarly journals Association between Genetic Polymorphisms of MIR3142HG and the Risk of Steroid-Induced Osteonecrosis of the Femoral Head in the Population of Northern China

2021 ◽  
pp. 1-9
Author(s):  
Tiantian Wang ◽  
Huiqiang Wu ◽  
Menghu Sun ◽  
Tingting Liu ◽  
Feimeng An ◽  
...  
Keyword(s):  
Femoral Head ◽  
Protective Factor ◽  
Genetic Model ◽  
Additive Model ◽  
Northern China ◽  
Dominant Model ◽  
Nucleotide Polymorphisms ◽  
Chinese Han ◽  
Aseptic Necrosis ◽  
Increased Risk

<b><i>Background:</i></b> Steroid-induced osteonecrosis of the femoral head (ONFH) is aseptic necrosis of the femoral head caused by glucocorticoid use. Once necrotic femoral head necrosis occurs, it irreversibly affects the quality of life seriously. Studies have shown that the susceptibility to steroid-induced ONFH is likely to be related to the variation of miRNA-coding genes. Therefore, this study aimed was to investigate the effect of <i>MIR3142HG</i> on steroid-induced ONFH. <b><i>Methods:</i></b> Agena MassARRAY was used to genotype <i>MIR3142HG</i> gene rs1582417, rs2431689, rs7727155, and rs17057846 in 199 patients and 725 healthy people. A genetic model and haplotype analysis were used to evaluate the relationship between the <i>MIR3142HG</i> polymorphism and the risk of steroid-induced ONFH. The odds ratio and 95% confidence intervals were obtained through logistic regression to assess the influence of gene polymorphisms on the occurrence of steroid-induced ONFH. <b><i>Results:</i></b> The consequences show that rs7727115 is a protective factor, it could reduce the risk of steroid-induced ONFH, and rs1582417 could increase the risk of steroid-induced ONFH. In the genetic model, rs1582417 was associated with increased risk of alcohol-induced ONFH in dominant model and log-additive model. rs7727115 showed a decreased risk in codominant model, dominant model, and log-additive model. In addition, rs2431689 is related to HDL-C (<i>p</i> = 0.012) and ApoA1 (<i>p</i> = 0.010) levels, and rs17057846 (<i>p</i> = 0.024) is related to ApoB levels. Thelinkage analysis indicated 3 single-nucleotide polymorphisms (rs2431689, rs7727115, and rs17057846) in <i>MIR3142HG</i> with significant chain imbalance. In addition, haplotype “GGG” of <i>MIR3142HG</i> was found out and is harmful for steroid-induced ONFH. <b><i>Conclusion:</i></b> Our results first confirm that the genetic polymorphism of <i>MIR3142HG</i> is associated with steroid-induced ONFH susceptibility in Chinese Han population.

Abstract 288: Novel Mechanisms of Non-coding Genomic Regulation Identified in Cardiac Disease-in-a-dish Models

2016 ◽  
Vol 119 (suppl_1) ◽  
Author(s):  
Aditya Kumar ◽  
Stephanie Thomas ◽  
Kirsten Wong ◽  
Kevin Tenerelli ◽  
Valentina Lo Sardo ◽  
...  
Keyword(s):  
Heart Attack ◽  
Connexin 43 ◽  
Disease Risk ◽  
Association Studies ◽  
Correlation Coefficients ◽  
Induced Pluripotent Stem Cell ◽  
Genome Wide Association Studies ◽  
Isogenic Line ◽  
Nucleotide Polymorphisms ◽  
Increased Risk

Genome-wide association studies have identified single nucleotide polymorphisms (SNPs) at gene loci that affect cardiovascular function, and while mechanisms in protein-coding loci are obvious, those in non-coding loci are difficult to determine. 9p21 is a recently identified locus associated with increased risk of coronary artery disease (CAD) and myocardial infarction. Associations have implicated SNPs in altering smooth muscle and endothelial cell properties but have not identified adverse effects in cardiomyocytes (CMs) despite enhanced disease risk. Using induced pluripotent stem cell-derived CMs from patients that are homozygous risk/risk (R/R) and non-risk/non-risk (N/N) for 9p21 SNPs and either CAD positive or negative, we assessed CM function when cultured on hydrogels capable of mimicking the fibrotic stiffening associated with disease post-heart attack, i.e. “heart attack-in-a-dish” stiffening from 11 kiloPascals (kPa) to 50 kPa. While all CMs independent of genotype and disease beat synchronously on soft matrices, R/R CMs cultured on dynamically stiffened hydrogels exhibited asynchronous contractions and had significantly lower correlation coefficients versus N/N CMs in the same conditions. Dynamic stiffening reduced connexin 43 expression and gap junction assembly in R/R CMs but not N/N CMs. To eliminate patient-to-patient variability, we created an isogenic line by deleting the 9p21 gene locus from a R/R patient using TALEN-mediated gene editing, i.e. R/R KO. Deletion of the 9p21 locus restored synchronous contractility and organized connexin 43 junctions. As a non-coding locus, 9p21 appears to repress connexin transcription, leading to the phenotypes we observe, but only when the niche is stiffened as in disease. These data are the first to demonstrate that disease-specific niche remodeling, e.g. a “heart attack-in-a-dish” model, can differentially affect CM function depending on SNPs within a non-coding locus.

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