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[PMID]: 29506578
[Au] Autor:Wu H; Wang S; Chen W; Zhan X; Xiao Z; Jiang H; Wei Q
[Ad] Address:Division of Spine Surgery, The First Affiliated Hospital of Guangxi Medical University, No.6 Shuangyong Road, Nanning, 530021, China.
[Ti] Title:Collagen IX gene polymorphisms and lumbar disc degeneration: a systematic review and meta-analysis.
[So] Source:J Orthop Surg Res;13(1):47, 2018 Mar 05.
[Is] ISSN:1749-799X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: An increasing number of studies have investigated associations between collagen IX alpha 2 chain (COL9A2) and collagen IX alpha 3 chain (COL9A3) gene polymorphisms and the risk of lumbar disc degeneration (LDD). However, these studies have yielded contradictory results. The purpose of this meta-analysis is to investigate the association between the collagen IX gene polymorphisms (rs12077871, rs12722877, rs7533552 in COL9A2; rs61734651 in COL9A3) and LDD. METHODS: All relevant articles were collected from PubMed, Web of Science, and China National Knowledge Infrastructure (CNKI). The last electronic search was performed on September 1, 2017. The allele/genotype frequencies were extracted from each study. The odds ratio (OR) and 95% confidence interval (CI) were used to assess the strength of associations under the five comparison genetic models. Statistical analysis was performed by Review Manager (RevMan) 5.31 software. RESULTS: The meta-analysis of 10 case-control studies, including 2102 LDD cases and 2507 controls, indicated that COL9A2 gene (rs12077871, rs12722877, rs7533552) and COL9A3 gene (rs61734651) polymorphisms were not associated with LDD (rs12077871: T vs. C, OR = 1.85, 95% CI = 0.87-3.91, P = 0.11; rs12722877: G vs. C, OR = 0.83, 95% CI = 0.69-1.01, P = 0.06; rs7533552: G vs. A, OR = 1.11, 95% CI = 0.98-1.25, P = 0.09; rs61734651: T vs. C, OR = 1.57, 95% CI = 0.51-4.84, P = 0.43). The Egger text and the Begg funnel plot did not show any evidence of publication bias. CONCLUSION: rs12077871, rs12722877, and rs7533552 variants in COL9A2 and rs61734651 variant in COL9A3 were not significantly associated with a predisposition to LDD. Large-scale and well-designed studies are needed to confirm this conclusion.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180311
[Lr] Last revision date:180311
[St] Status:In-Process
[do] DOI:10.1186/s13018-018-0750-0

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[PMID]: 29484746
[Au] Autor:Hauge SC; Jensen CK; Nielsen LK; Pedersen OB; Sørensen E; Thørner LW; Hjalgrim H; Erikstrup C; Nielsen KR; Kaspersen KA; Didriksen M; Dziegiel M; Ullum H
[Ad] Address:Department of Clinical Immunology, Copenhagen University Hospital, Copenhagen, Denmark.
[Ti] Title:The association of IgA deficiency on infection rate, self-perceived health, and levels of C-reactive protein in healthy blood donors.
[So] Source:APMIS;126(3):248-256, 2018 Mar.
[Is] ISSN:1600-0463
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:The clinical importance of immunoglobulin A (IgA) deficiency in otherwise healthy individuals is not well described. We aimed to investigate the self-reported mental and physical health and the risk of infection in IgA-deficient blood donors compared to healthy control blood donors. Infectious events, recorded in public health registries either as prescriptions filled of any antimicrobial medicine or as hospital infections, were compared between 177 IgA-deficient blood donors and 1770 control blood donors. A subset of the IgA-deficient donors were further characterized by self-reported health (Short Form-12, n = 28) and circulating C-reactive protein (CRP) (n = 10). IgA-deficient individuals had lower self-reported mental health (p = 0.01) and higher CRP (p < 0.05). A strong trend was found regarding prescription of antimicrobial medicine (hazard ratio = 1.19, p = 0.05). No association was found with hospital infections (hazard ratio = 1.02, p = 0.95) or self-reported physical health (p = 0.86). IgA-deficient blood donors have impaired self-reported mental health, enhanced inflammation and possibly an increased risk of infection. Despite these findings, this study does not provide sufficient evidence to warrant specific health precautions for donors with IgA deficiency.
[Mh] MeSH terms primary: C-Reactive Protein/metabolism
Diagnostic Self Evaluation
Genetic Predisposition to Disease
IgA Deficiency/immunology
Immunoglobulin A/immunology
Infection/epidemiology
[Mh] MeSH terms secundary: Adult
Blood Donors
Denmark/epidemiology
Female
Humans
IgA Deficiency/genetics
Immunoglobulin A/genetics
Infection/immunology
Male
Middle Aged
Risk
Surveys and Questionnaires
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Immunoglobulin A); 9007-41-4 (C-Reactive Protein)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180228
[St] Status:MEDLINE
[do] DOI:10.1111/apm.12807

  3 / 130605 MEDLINE  
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[PMID]: 29460640
[Au] Autor:Sullivan A; Watkinson J; Waddington J; Park BK; Naisbitt DJ
[Ad] Address:a MRC Centre for Drug Safety Science, Department of Molecular and Clinical Pharmacology , The University of Liverpool , Liverpool , England.
[Ti] Title:Implications of HLA-allele associations for the study of type IV drug hypersensitivity reactions.
[So] Source:Expert Opin Drug Metab Toxicol;14(3):261-274, 2018 Mar.
[Is] ISSN:1744-7607
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:INTRODUCTION: Type IV drug hypersensitivity remains an important clinical problem and an obstacle to the development of new drugs. Several forms of drug hypersensitivity are associated with expression of specific HLA alleles. Furthermore, drug-specific T-lymphocytes have been isolated from patients with reactions. Despite this, controversy remains as to how drugs interact with immune receptors to stimulate a T-cell response. Areas covered: This article reviews the pathways of T-cell activation by drugs and how the ever increasing number of associations between expression of HLA alleles and susceptibility to hypersensitivity is impacting on our research effort to understanding this form of iatrogenic disease. Expert opinion: For a drug to activate a T-cell, a complex is formed between HLA molecules, an HLA binding peptide, the drug and the T-cell receptor. T-cell responses can involve drugs and stable or reactive metabolites bound covalently or non-covalently to any component of this complex. Recent research has linked the HLA associations to the disease through the characterization of drug-specific T-cell responses restricted to specific alleles. However, there is now a need to identify the additional genetic or environment factors that determine susceptibility and use our increased knowledge to develop predictive immunogenicity tests that offer benefit to Pharma developing new drugs.
[Mh] MeSH terms primary: Drug Hypersensitivity/immunology
HLA Antigens/immunology
Hypersensitivity, Delayed/chemically induced
[Mh] MeSH terms secundary: Alleles
Drug Hypersensitivity/genetics
Genetic Predisposition to Disease
Humans
Hypersensitivity, Delayed/genetics
Hypersensitivity, Delayed/immunology
Lymphocyte Activation/drug effects
Lymphocyte Activation/immunology
T-Lymphocytes/immunology
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (HLA Antigens)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180221
[St] Status:MEDLINE
[do] DOI:10.1080/17425255.2018.1441285

  4 / 130605 MEDLINE  
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[PMID]: 29438392
[Au] Autor:Goodin DS; Khankhanian P; Gourraud PA; Vince N
[Ad] Address:Department of Neurology, University of California, San Francisco, CA, United States of America.
[Ti] Title:Highly conserved extended haplotypes of the major histocompatibility complex and their relationship to multiple sclerosis susceptibility.
[So] Source:PLoS One;13(2):e0190043, 2018.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To determine the relationship between highly-conserved extended-haplotypes (CEHs) in the major histocompatibility complex (MHC) and MS-susceptibility. BACKGROUND: Among the ~200 MS-susceptibility regions, which are known from genome-wide analyses of single nucleotide polymorphisms (SNPs), the MHC accounts for roughly a third of the currently explained variance and the strongest MS-associations are for certain Class II alleles (e.g., HLA-DRB1*15:01; HLA-DRB1*03:01; and HLA-DRB1*13:03), which frequently reside on CEHs within the MHC. DESIGN/METHODS: Autosomal SNPs (441,547) from 11,376 MS cases and 18,872 controls in the WTCCC dataset were phased. The most significant MS associated SNP haplotype was composed of 11 SNPs in the MHC Class II region surrounding the HLA-DRB1 gene. We also phased alleles at the HLA-A, HLA-C, HLA-B, HLA-DRB1, and HLA-DQB1 loci. This data was used to probe the relationship between CEHs and MS susceptibility. RESULTS: We phased a total of 59,884 extended haplotypes (HLA-A, HLA-C, HLA-B, HLA-DRB1, HLA-DQB1 and SNP haplotypes) from 29,942 individuals. Of these, 10,078 unique extended haplotypes were identified. The 10 most common CEHs accounted for 22% (13,302) of the total. By contrast, the 8,446 least common extended haplotypes also accounted for approximately 20% (12,298) of the total. This extreme frequency-disparity among extended haplotypes necessarily complicates interpretation of reported disease-associations with specific HLA alleles. In particular, the HLA motif HLA-DRB1*15:01~HLA-DQB1*06:02 is strongly associated with MS risk. Nevertheless, although this motif is almost always found on the a1 SNP haplotype, it can rarely be found on others (e.g., a27 and a36), and, in these cases, it seems to have no apparent disease-association (OR = 0.7; CI = 0.3-1.3 and OR = 0.7; CI = 0.2-2.2, respectively). Furthermore, single copy carriers of the a1 SNP-haplotype without this HLA motif still have an increased disease risk (OR = 2.2; CI = 1.2-3.8). In addition, even among the set of CEHs, which carry the Class II motif of HLA-DRB1*15:01~HLA-DQB1*06:02~a1, different CEHs have differing strengths in their MS-associations. CONCLUSIONS: The MHC in diverse human populations consists, primarily, of a very small collection of very highly-selected CEHs. Our findings suggest that the MS-association with the HLA-DRB1*15:01~HLA-DQB1*06:02 haplotype may be due primarily to the combined attributes of the CEHs on which this particular HLA-motif often resides.
[Mh] MeSH terms primary: Genetic Predisposition to Disease
Haplotypes
Major Histocompatibility Complex/genetics
Multiple Sclerosis/genetics
[Mh] MeSH terms secundary: Humans
Polymorphism, Single Nucleotide
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180214
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0190043

  5 / 130605 MEDLINE  
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[PMID]: 29421442
[Au] Autor:Wu S; Mao L; Li Y; Yin Y; Yuan W; Chen Y; Ren W; Lu X; Li Y; Chen L; Chen B; Xu W; Tian T; Lu Y; Jiang L; Zhuang X; Chu M; Wu J
[Ad] Address:Jiangsu Provincial Key Laboratory of Geriatrics, Department of Geriatrics, The First Affiliated Hospital with Nanjing Medical University, Nanjing, China.
[Ti] Title:RAGE may act as a tumour suppressor to regulate lung cancer development.
[So] Source:Gene;651:86-93, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Although the correlation of the RAGE rs2070600 polymorphism and cancer risk has been confirmed, detailed studies with functional and experimental evaluations are lacking. In this study, we first aimed to examine whether this polymorphism is associated with cancer risk based on the latest published data, and consistent with previous meta-analyses, a significant association between the rs2070600 polymorphism and cancer risk was observed (A versus G: OR = 1.25; 95% CI = 1.12-1.40). In additional stratified analyses based on cancer type, rs2070600 was significantly associated with an increased risk of lung cancer (A versus G: OR = 1.20; 95% CI = 1.09-1.33). Moreover, TCGA database showed that the expression level of RAGE was significantly lower in lung cancer tumour tissues than in adjacent non-tumour tissues, which was validated in the GEO database. Additionally, eQTL analysis indicated that the rs2070600 polymorphism may modify the expression level of RAGE in lung squamous cell carcinoma tissues (P = 0.09). Finally, we performed functional experiments in lung cancer cells and preliminarily demonstrated that RAGE may act as a tumour suppressor in lung cancer development. These findings provide evidence that the variant A allele of rs2070600 may decrease the expression of the tumour suppressor gene RAGE, thereby increasing lung cancer risk.
[Mh] MeSH terms primary: Genes, Tumor Suppressor
Lung Neoplasms/genetics
Polymorphism, Single Nucleotide
Receptor for Advanced Glycation End Products/genetics
[Mh] MeSH terms secundary: Cell Line
Cell Line, Tumor
Gene Expression
Genetic Predisposition to Disease
Humans
Lung Neoplasms/pathology
Phenotype
Quantitative Trait Loci
[Pt] Publication type:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Name of substance:0 (Receptor for Advanced Glycation End Products)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180209
[St] Status:MEDLINE

  6 / 130605 MEDLINE  
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[PMID]: 29408620
[Au] Autor:Qiu S; Li Y; Li Y; Zhong W; Shi M; Zhao Q; Zhang K; Wang Y; Lu M; Zhu X; Jiang H; Yu Y; Cheng Y; Liu Y
[Ad] Address:Department of Epidemiology and Biostatistics, School of Public Health, Jilin University, Changchun 130021, Jilin, China.
[Ti] Title:Association between SHANK3 polymorphisms and susceptibility to autism spectrum disorder.
[So] Source:Gene;651:100-105, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Autism spectrum disorder (ASD), as one of neurodevelopmental disorders, affects about 1/160 of people worldwide. The etiology and pathogenesis of ASD remain elusive. Synapses are essential components of neurons and basic information transmission unit in the nervous system, adjusting behavior to environmental stimuli and controlling body functions, memories, and emotions. SHANK3 is one of the synapse genes which play important roles in maintaining synaptic structure and function. SHANK3 has been researched as a probably susceptibility gene for ASD. We investigated the association between polymorphisms in SHANK3 and ASD in the Northeast Han Chinese population. A total of 470 subjects (229 cases and 241 controls) were enrolled in our case-control study. Five single nucleotide polymorphisms (SNPs) (rs756638, rs4824116, rs76268556, rs9616915, and rs75767639) in SHANK3 were selected and genotyped. Our study did not identify a significant association of SHANK3 SNPs with ASD in the Northeast Han Chinese population. Future studies need to test more SHANK3 SNPs in large sample to demonstrate the association between SNPs in SHANK3 and ASD.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
Autism Spectrum Disorder/genetics
Nerve Tissue Proteins/genetics
Polymorphism, Single Nucleotide
[Mh] MeSH terms secundary: Case-Control Studies
Child, Preschool
Female
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Male
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Nerve Tissue Proteins); 0 (SHANK3 protein, human)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180207
[St] Status:MEDLINE

  7 / 130605 MEDLINE  
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[PMID]: 29391274
[Au] Autor:Chen YL; Li TJ; Hao Y; Wu BG; Li H; Geng N; Sun ZQ; Zheng LQ; Sun YX
[Ad] Address:Department of Cardiology, The First Hospital of China Medical University, Shenyang, Liaoning, PR China.
[Ti] Title:Association of rs2271037 and rs3749585 polymorphisms in CORIN with susceptibility to hypertension in a Chinese Han population: A case-control study.
[So] Source:Gene;651:79-85, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Corins are membrane-bound protease that regulates blood pressure by activating the natriuretic peptides. These pro-atrial natriuretic peptide convertases are essential for sodium homeostasis and normal blood pressure. CORIN variants have been identified in humans and other animals, but no studies of CORIN polymorphisms have been conducted in northeastern China. This study aims to investigate the association of 2 single nucleotide polymorphisms (SNPs) in CORIN (rs2271037 and rs3749585) with hypertension, as well as their potential interactions with some risk factors of hypertension in a Han population of northeastern China. A case-control study, including 402 patients with hypertension and 406 participants with normal blood pressure, was conducted in Liaoning province. SNP genotyping was carried out by high resolution melting (HRM) after polymerase chain reaction amplifications. Since rs3749585 is located in 3' untranslated region (UTR) of CORIN, in silico analysis was used to predict target micro RNAs on TargetScan, miRanda, and DIANA-microT. As a result, mutant T allele in rs2271037 (odds ratio [OR], 1.693; 95% confidence [CI], 1.528-1.877; p < 0.001) and C allele in rs3749585 (OR, 1.114; 95% CI 1.011-1.227; p = 0.029) increased the risk of hypertension, comparing with wild G allele and T allele, respectively. Patients with genotype TT (OR, 10.209; 95% CI, 6.414-16.250; p < 0.001) and GT (OR, 1.730; 95% CI, 1.226-2.443; p = 0.002) have higher risk of hypertension than those with genotype GG. SNP rs2271037 was significantly associated with susceptibility to hypertension in all genetic models (dominant model: OR, 2.879; 95% CI, 2.080-3.986; p < 0.001; recessive model: OR, 7.159; 95% CI, 4.779-10.724; p < 0.001; additive model: OR, 1.535; 95% CI, 1.163-2.027; p = 0.002). SNP rs3749585 was significantly correlated with hypertension susceptibility only in dominant model (OR, 1.533; 95% CI, 1.073-2.189; p = 0.019), but not in recessive model (OR, 1.220; 95% CI, 0.906-1.644; p = 0.191) or additive model (OR, 0.915; 95% CI, 0.694-1.205; p = 0.527). After adjusting for age, gender, body mass index (BMI), smoking, low-density lipoprotein cholesterol, and serum sodium level in logistic models, the same statistical results were obtained. Interaction study showed the association between CORIN polymorphisms and hypertension could be changed by overweight (BMI ≥ 25 kg/m ). In silico analyses implicated hsa-miR-495 as a target miRNA that potentially interacts with the 3' UTR of CORIN. In conclusion, polymorphisms of rs2271037 and rs3749585 in CORIN were significantly associated with hypertension in a Han population of northeastern China. The mutant-type T allele of rs2271037 and C allele of rs3749585 might increase the susceptibility to hypertension in this population.
[Mh] MeSH terms primary: Asian Continental Ancestry Group/genetics
Hypertension/genetics
Polymorphism, Single Nucleotide
Serine Endopeptidases/genetics
[Mh] MeSH terms secundary: Alleles
Case-Control Studies
Female
Gene-Environment Interaction
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Male
MicroRNAs/metabolism
Middle Aged
RNA, Messenger/metabolism
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (MicroRNAs); 0 (RNA, Messenger); EC 3.4.21.- (CORIN protein, human); EC 3.4.21.- (Serine Endopeptidases)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE

  8 / 130605 MEDLINE  
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[PMID]: 29374520
[Au] Autor:Chen J; Jiang Y; Zhou J; Liu S; Qin N; Du J; Jin G; Hu Z; Ma H; Shen H; Dai J
[Ad] Address:Department of Epidemiology, School of Public Health, Nanjing Medical University, Nanjing, China; Jiangsu Key Lab of Cancer Biomarkers, Prevention and Treatment, Collaborative Innovation Center for Cancer Medicine, Nanjing Medical University, Nanjing, China.
[Ti] Title:Evaluation of CpG-SNPs in miRNA promoters and risk of breast cancer.
[So] Source:Gene;651:1-8, 2018 Apr 20.
[Is] ISSN:1879-0038
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:CpG-SNPs in gene promoter regions are proposed to be associated with multiple diseases. To date, few studies have focused on the associations between CpG-SNPs in miRNA promoters and the risk of breast cancer. In this study, 138 miRNAs differentially expressed between breast cancer and non-cancer tissues (fold change >2, P < 0.05) were identified using The Cancer Genome Atlas (TCGA) Research database. In total, 13 SNPs were selected in the promoters of the miRNAs and were evaluated in a case-control study of Chinese women including 1486 cases and 1519 controls. After multivariate logistic regression analysis, we found that three CpG-SNPs: rs1190983, rs155247, and rs62382272, were significantly associated with breast-cancer susceptibility in the population (Additive model: rs1190983: adjusted OR = 0.88, 95% CI: 0.79-0.99, P = 0.034; rs155247: adjusted OR = 0.83, 95% CI: 0.74-0.93, P = 0.002; rs62382272: adjusted OR = 1.24, 95% CI: 1.04-1.47, P = 0.016). eQTL analysis showed that these three SNPs were correlated with the expression of the related miRNAs in TCGA breast cancer tissues (P = 0.006,0.009,0.001 for rs1190983, rs155247, and rs62382272). Furthermore, rs1190983 was found to be associated with CpG site (cg20488673) methylation (meQTL) (P = 0.004), which was in turn correlated with miR-342 expression (P = 0.016). These findings indicated that the three CpG-SNPs in the promoters of miRNAs were likely to possess important biological functions to breast cancer in the Han Chinese population.
[Mh] MeSH terms primary: Breast Neoplasms/genetics
CpG Islands
MicroRNAs/genetics
Polymorphism, Single Nucleotide
Promoter Regions, Genetic
[Mh] MeSH terms secundary: Asian Continental Ancestry Group/genetics
Case-Control Studies
Female
Genetic Predisposition to Disease
Humans
Middle Aged
Quantitative Trait Loci
Risk Assessment
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (MicroRNAs)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180129
[St] Status:MEDLINE

  9 / 130605 MEDLINE  
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[PMID]: 29372577
[Au] Autor:Mansouri F; Heydarzadeh R; Yousefi S
[Ad] Address:Department of Genetics and Immunology, Faculty of Medicine, Urmia University of Medical Sciences, Urmia, Iran.
[Ti] Title:The association of interferon-gamma, interleukin-4 and interleukin-17 single-nucleotide polymorphisms with susceptibility to tuberculosis.
[So] Source:APMIS;126(3):227-233, 2018 Mar.
[Is] ISSN:1600-0463
[Cp] Country of publication:Denmark
[La] Language:eng
[Ab] Abstract:Susceptibility to tuberculosis and progression of the disease depend on interactions between the bacterial agent, host immune system, and environmental and genetic factors. In this case-controlled study, we aimed to determine the role of single-nucleotide polymorphisms of interferon-gamma, interleukin-4 and interleukin-17 in susceptibility to tuberculosis. Genomic DNA was extracted from peripheral blood samples of patients and controls. The association of single-nucleotide polymorphisms in interleukin-4 (-590C/T), interleukin-17 (-152A/G) and interferon-gamma (+874T/A) was investigated by polymerase chain reaction (PCR)-restriction fragment length polymorphism and amplification refractory mutation system-PCR. A total of 76 tuberculosis patients and 119 healthy individuals were included in this study. The interferon-gamma (+874T/A) TA genotype was significantly associated with susceptibility to tuberculosis in patients compared to controls (OR = 1.76; 95%CI = 0.84-3.71; p = 0.007), while the interferon-gamma (+874T/A) TT genotype (OR = 0.51; 95%CI = 0.19-1.36; p = 0.007) had protective effects against tuberculosis and was related to a low risk of tuberculosis development. The difference between allelic and genotypic frequencies of interleukin-4 (-590C/T) between patients and controls was not significant (p = 0.46). Multivariate logistic regression analysis revealed that the interleukin-17 (-152A/G) AG genotype (OR = 2.27; 95%CI = 1.19-4.34; p = 0.03) and AA genotype (OR = 1.03; 95%CI = 0.43-2.44; p = 0.03) were significantly different between patients and controls. In conclusion, single-nucleotide mutations in different cytokine genes may have protective effects or increase the risk of tuberculosis.
[Mh] MeSH terms primary: Genetic Predisposition to Disease
Interferon-gamma/genetics
Interleukin-17/genetics
Interleukin-4/genetics
Tuberculosis, Pulmonary/genetics
[Mh] MeSH terms secundary: Adult
Alleles
Case-Control Studies
DNA/genetics
Female
Gene Frequency/genetics
Genotype
Humans
Male
Middle Aged
Mycobacterium tuberculosis/immunology
Nucleic Acid Amplification Techniques
Polymorphism, Restriction Fragment Length
Polymorphism, Single Nucleotide/genetics
Tuberculosis, Pulmonary/microbiology
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (IL17A protein, human); 0 (IL4 protein, human); 0 (Interleukin-17); 207137-56-2 (Interleukin-4); 82115-62-6 (Interferon-gamma); 9007-49-2 (DNA)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180127
[St] Status:MEDLINE
[do] DOI:10.1111/apm.12810

  10 / 130605 MEDLINE  
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[PMID]: 29330562
[Au] Autor:Zhao L; Zhu H; Han B; Wang L; Sun Y; Lu X; Huang C; Tan B; Chen C; Qin L
[Ad] Address:Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
[Ti] Title:Influence of genetic polymorphisms of IL23R, STAT3, IL12B, and STAT4 on the risk of aplastic anemia and the effect of immunosuppressive therapy.
[So] Source:Ann Hematol;97(4):685-695, 2018 Apr.
[Is] ISSN:1432-0584
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Studies have suggested that IL-23/STAT3 and IL-12/STAT4 signaling pathways associate with aplastic anemia (AA) occurrence. Polymorphisms in pathway-related genes may contribute to AA risk. In the current study, we investigated the association between polymorphisms in genes of IL23R, STAT3, IL12B, and STAT4 and occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China. In the current 164 AA cases and 211 controls study, we found T allele and TT genotype of rs7574865 were more frequent in the cases than that in the controls. In the additive model, individual carrying rs7574865 T allele demonstrated a 37% (OR (95% CI) = 1.37 (1.02-1.85), Pper = 0.036) increased AA risk. In the recessive model, carrier with rs7574865 TT genotype showed a 2.08-fold increased AA risk (OR (95% CI) = 2.08 (1.14-3.70), Pper = 0.017). Additionally, we showed that G allele and GG genotype of rs11209032 were more frequent in the 88 non-severe AA cases than that in the 76 severe AA ones. Our study also found G allele and GG genotype of rs11209032, and GG-genotype of rs744166 associated with the immunosuppressive therapy outcome in AA patients. Current study results support that functional STAT4 (rs7574865), IL23R (rs11209032), and STAT3 (rs744166) variants may associate with occurrence, severity, and immunosuppressive outcome of AA in the Han population in southwest China.
[Mh] MeSH terms primary: Anemia, Aplastic/genetics
Anemia, Aplastic/therapy
Immunosuppression
Polymorphism, Single Nucleotide
Receptors, Interleukin/genetics
STAT3 Transcription Factor/genetics
STAT4 Transcription Factor/genetics
[Mh] MeSH terms secundary: Adolescent
Adult
Anemia, Aplastic/immunology
Anemia, Aplastic/physiopathology
Asian Continental Ancestry Group
Case-Control Studies
China
Female
Follow-Up Studies
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Interleukin-12 Subunit p40/genetics
Male
Middle Aged
Retrospective Studies
Severity of Illness Index
Treatment Outcome
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; META-ANALYSIS
[Nm] Name of substance:0 (IL12B protein, human); 0 (IL23R protein, human); 0 (Interleukin-12 Subunit p40); 0 (Receptors, Interleukin); 0 (STAT3 Transcription Factor); 0 (STAT3 protein, human); 0 (STAT4 Transcription Factor); 0 (STAT4 protein, human)
[Em] Entry month:1803
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[Js] Journal subset:IM
[Da] Date of entry for processing:180114
[St] Status:MEDLINE
[do] DOI:10.1007/s00277-018-3227-7


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