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1

Salamaikina, S. A., V. I. Korchagin, K. O. Mironov, and M. A. Karnaushkina. "Association of Toll-like receptor polymorphism and gene expression level with the risk of developing chronic obstructive pulmonary disease (COPD) and its severity." Bulletin of Siberian Medicine 24, no. 1 (2025): 77–85. https://doi.org/10.20538/1682-0363-2025-1-77-85.

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Aim. Determine the influence of genetic factors of innate immunity on the risk of development and severity of COPD. Materials and methods. The study included 103 patients diagnosed with chronic obstructive pulmonary disease and 47 conditionally healthy people without any chronic bronchopulmonary pathologies. The expression level of TLR genes and alleles of rs5743551 (TLR1), rs5743708 (TLR2), rs3804100 (TLR2), rs3806790 (TLR4), rs5743810 (TLR6), rs3804880 (TLR8) single nucleotide polymorphisms were analyzed via real-time polymerase chain reaction (PCR). Results. Several tendencies were observed
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2

Liu, Fengjing, Weixin Lu, Qiaohui Qian, Weigang Qi, Jifan Hu, and Bo Feng. "Frequency of TLR 2, 4, and 9 Gene Polymorphisms in Chinese Population and Their Susceptibility to Type 2 Diabetes and Coronary Artery Disease." Journal of Biomedicine and Biotechnology 2012 (2012): 1–7. http://dx.doi.org/10.1155/2012/373945.

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Toll-like receptors (TLRs) are pivotal components of the innate immune response. Activation of the innate immune system and subsequent chronic low-grade inflammation are thought to be involved in the pathogenesis of atherosclerosis and type 2 diabetes. In the study, we genotyped TLRs gene polymorphisms, including TLR2 Arg677Trp and Arg753Gln, TLR4 Asp299Gly and Thr399Ile, TLR9-1486T/C and -1237T/C. The frequencies of TT, TC and CC genotype of TLR9-1486T/C mutation were 39.6%, 45.8% and 14.6%, respectively; the frequencies of T allele and C allele were 62.5% and 37.5%. However, neither of these
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3

Shevchenko, A. V., V. F. Prokofiev, V. I. Konenkov, V. V. Chernykh, and A. N. Trunov. "Features of toll-like receptor genes (TLR-2, TLR-3, TLR-4 and TLR-6) polymorphism in open-angle glaucoma patients." Vavilov Journal of Genetics and Breeding 29, no. 1 (2025): 128–34. https://doi.org/10.18699/vjgb-25-15.

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Modern research shows that innate immunity plays an important role in the pathogenesis of primary open-angle glaucoma (POAG). An increase in the content of toll-like receptors (TLR) in the glaucomatous retina of the human eye was revealed. TLRs can modulate the immune response in glaucoma; provide early recognition of damaging agents, activation of signaling pathways and effector mechanisms of the nonspecific immune defense system aimed at restoring homeostasis. The TLR-encoding genes’ polymorphism alters the amino acid structure of the receptors, which leads to changes in their immune functio
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4

Khaled, Bedewy M., Abou Seada M. Noha, Antonios A. M. Manal, and Saleh M. Engy. "Role of Toll-Like Receptors 2 and 4 Genes Polymorphisms in Neonatal Sepsis in a Developing Country: A Pilot Study." Journal of Pediatric Infectious Diseases 15, no. 06 (2020): 276–82. http://dx.doi.org/10.1055/s-0040-1714710.

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Abstract Objective Toll-like receptors (TLR) are one of the key molecules that alert the immune system to the presence of microbial infections. This study attempts to elucidate the role of TLR2 and TLR4 polymorphisms in neonatal sepsis. Methods A case–control study including 30 neonates with confirmed sepsis compared with 20 neonates in a control group. TLR2 and TLR24 gene polymorphisms were confirmed by polymerase chain reaction. Results The majority of infections were attributed to gram-negative organisms (72.5%) namely Klebsiella pneumoniae, Pseudomonas aeruginosa, and Escherichia coli. Res
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5

Dorofeyev, Andriy E., Anna A. Dorofeyeva, Elena A. Kiriyan, Olga A. Rassokhina, and Yulia Z. Dynia. "GENETIC POLYMORPHISM IN PATIENTS WITH EARLY AND LATE ONSET OF ULCERATIVE COLITIS." Wiadomości Lekarskie 73, no. 1 (2020): 87–90. http://dx.doi.org/10.36740/wlek202001116.

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The aim was to investigate SNPs of TLR-2,3,4, NOD2/CARD15, JAK-2, and IL-10 in patients with the early and late UC onset. Matherials and methods: 126 patients with UC were investigated. To assess the predisposition of the early and late UC onset the incidence of the following SNPs: Arg753Gln TLR2 gene, Phe412Leu TLR3 gene, Asp299Gly and Thr399Ile TLR4 gene, C-819T, G-1082A and C-592A gene IL-10, Val617Phe gene JAK2, Gly908Arg gene NOD2/CARD15 were analyzed. Results: 76 patients had early disease onset and 50 had a late one. SNPs of TLR3 were observed in 50.8% cases. TLR4 polymorphism was more
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6

Kesici, Gülin Gökçen, Selda Kargın Kaytez, Talih Özdaş, and Sibel Özdaş. "Association of Toll-Like Receptor Polymorphisms With Nasal Polyposis." Ear, Nose & Throat Journal 100, no. 1 (2019): NP26—NP32. http://dx.doi.org/10.1177/0145561319859305.

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Nasal polyposis is a disease characterized with chronic inflammation of the nasal mucosa. Toll-like receptors (TLRs) are defined as essential receptors of the innate immune system and may play in the development of nasal polyposis. A total of 71 patients with nasal polyposis and 74 healthy controls were included in this study. Three single-nucleotide polymorphisms (SNPs); TLR2 (2258 A>G), TLR4 (896 A>G), and TLR4 (1196 C>T) were analyzed in all patients. The degree of pair-wise linkage disequilibrium and the genotype and haplotype analyses were conducted using regression in this logis
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7

Shi, Jimin, Haowen Xiao, Yi Luo, et al. "Relationship between Gene Polymorphism of Recipient/ Donor Immune Pathway and Invasive Fungal Infection after Allogeneic Hematopoietic Stem Cell Transplantation." Blood 124, no. 21 (2014): 3871. http://dx.doi.org/10.1182/blood.v124.21.3871.3871.

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Abstract Invasive fungal infections are a major cause of morbidity and mortality after allogeneic hematopoietic stem cell transplantation(allo-HSCT). During the past 2 decades, changes in transplantation practices and strategies to diagnose and treat IFI have likely impacted the epidemiology of IFI. Polymorphism of genes, which take part in the allogeneic immune response after allo-HSCT, lead to allograft immunoreactivity differences between individuals. It also may affect IFI after transplantation. Methods: We analyzed allo-HSCT recipients at our center during the period January 2001 through
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8

Svitich, O. A., O. Yu Olisova, E. A. Meremianina, N. D. Rasskazova, V. A. Fomina, and M. B. Potapova. "Association of single nucleotide polymorphisms of <i>TLR2</i>, <i>TLR4</i> and <i>TLR9</i> with atopic dermatitis." Medical Immunology (Russia) 25, no. 5 (2023): 1043–48. http://dx.doi.org/10.15789/1563-0625-aos-2807.

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Toll-like receptors (TLRs) are the most studied among all Pattern Recognition Receptors, the main function of which is to initiate innate immune response by recognizing pathogen-associated molecular patterns of various microorganisms on the skin surface. TLR-mediated recognition plays an important role in linking innate and adaptive immunity that ultimately leads to the production of key cytokines, chemokines and antimicrobial peptides. Today, there is growing interest in research on single nucleotide polymorphisms (SNPs) in TLR genes and its influence on susceptibility to inflammatory disease
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9

Sinitskaya, A. V., M. V. Khutornaya, O. N. Khryachkova, et al. "Associations of <i>TLR</i> gene polymorphism with the risk of rheumatic heart disease." Сибирский научный медицинский журнал 43, no. 6 (2024): 177–84. http://dx.doi.org/10.18699/ssmj20230622.

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Aim of the study was to investigate the associations between TLR gene polymorphism and the risk of rheumatic heart disease (RHD).Material and methods. 251 RHD patients (190 females and 61 males) and 300 healthy donors (190 females and 110 males), whose age was 57 [29; 77] and 53 [21; 80] years (median [lower quartile; upper quartile]), respectively, were recruited in the presented study. Eight polymorphic variants in the TLR gene were genotyped by realtime PCR.Results. We found no statistically significant differences in the frequency of eight polymorphic variants in the TLR1, TLR2, TLR4 and T
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10

Wu, Hongjiao, Hui Gao, Ang Li, et al. "Impact of Genetic Variation in TLR4 3′UTR on NSCLC Genetic Susceptibility." Journal of Oncology 2020 (April 9, 2020): 1–7. http://dx.doi.org/10.1155/2020/7593143.

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Toll-like receptors (TLRs) are expressed not only in immune cells but also in a variety of tumor cells. Single-nucleotide polymorphisms (SNPs) located in the TLRs’ promoter or the 3′ untranslated region may affect gene expression by affecting the activity of the promoter or regulating the binding of mRNA to miRNA. This study aimed to investigate the association of the SNPs in TLR genes with the susceptibility to NSCLC. This case-control study involved 700 lung cancer patients and 700 healthy controls. All individuals were genotyped for all selected SNPs in TLR genes using polymerase chain reac
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11

Sinitskaya, Anna, Maria Khutornaya, Oksana Hryachkova, et al. "Inflammatory Response Genes’ Polymorphism Associated with Risk of Rheumatic Heart Disease." Journal of Personalized Medicine 14, no. 7 (2024): 753. http://dx.doi.org/10.3390/jpm14070753.

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Rheumatic heart disease (RHD) caused by group A streptococcus infection is one of the most important reasons of cardiovascular morbidity and mortality in low- and middle-income countries. Aberrant host immune response modulated by polymorphisms in inflammatory response genes plays an important role in RHD pathogenesis. This study aimed to determine risk-associated polymorphic variants in inflammatory response genes in Caucasian RHD patients. A total of 251 Caucasian RHD patients and 300 healthy donors were recruited for this study, and 27 polymorphic sites in 12 genes (TLR1, TLR2, TLR4, TLR6,
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12

Meliț, Lorena Elena, Cristina Oana Mărginean, Cristian Dan Mărginean, and Maria Oana Mărginean. "The Relationship between Toll-like Receptors andHelicobacter pylori-Related Gastropathies: Still a Controversial Topic." Journal of Immunology Research 2019 (February 4, 2019): 1–10. http://dx.doi.org/10.1155/2019/8197048.

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Innate immunity represents the first barrier against bacterial invasion. Toll-like receptors (TLRs) belong to the large family of pattern recognition receptors (PRRs), and their activation leads to the induction of inflammatory cytokines, chemokines, antigen-presenting molecules, and costimulatory molecules. Recent studies have focused on identifying the association between TLRs andHelicobacter pylori- (H. pylori-) related diseases. Therefore, this minireview focuses on assessing the role of these TLRs in the development ofH. pylori-related gastropathies. Both TLR2 and TLR were found to be inv
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13

Aktaş, Tugba, Sevim K. Celik, Gunes C. Genc, Dilek Arpaci, Murat Can, and Ahmet Dursun. "Higher Levels of Serum TLR2 and TLR4 in Patients with Hashimoto's Thyroiditis." Endocrine, Metabolic & Immune Disorders - Drug Targets 20, no. 1 (2020): 118–26. http://dx.doi.org/10.2174/1871530319666190329114621.

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Objective: Hashimoto’s thyroiditis (HT) is an autoimmune disorder caused by the interaction between genes and environmental triggers. HT is the most common endocrine disorder, as well as the most common cause of hypothyroidism. Autoimmunity plays a crucial role in the pathogenesis of HT and recent studies suggest that Toll-like receptor (TLR) signals lead to increased inflammatory response. The aim of our study is to investigate whether TLR-2 and TLR-4 levels and gene polymorphisms contribute to the damaged immune response leading to HT. Methods: Using the polymerase chain reaction-restriction
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14

Bakaros, Evangelos, Ioanna Voulgaridi, Vassiliki Paliatsa, et al. "Innate Immune Gene Polymorphisms and COVID-19 Prognosis." Viruses 15, no. 9 (2023): 1784. http://dx.doi.org/10.3390/v15091784.

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COVID-19 is characterized by a heterogeneous clinical presentation and prognosis. Risk factors contributing to the development of severe disease include old age and the presence of comorbidities. However, the genetic background of the host has also been recognized as an important determinant of disease prognosis. Considering the pivotal role of innate immunity in the control of SARS-CoV-2 infection, we analyzed the possible contribution of several innate immune gene polymorphisms (including TLR2-rs5743708, TLR4-rs4986790, TLR4-rs4986791, CD14-rs2569190, CARD8-rs1834481, IL18-rs2043211, and CD4
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15

Sav, NM, R. Eroz, Duran N. Kalay, O. Kilicaslan, and Karaca S. Erisen. "Investigation of TLR4 Polymorphism in Children with Vesicoureteral Reflux and Renal Scarring." Balkan Journal of Medical Genetics 27, no. 2 (2024): 41–47. https://doi.org/10.2478/bjmg-2024-0013.

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ABSTRACT Vesicoureteral reflux (VUR) is an important factor in the etiology of recurrent urinary tract infections (UTIs). Permanent kidney damage may develop in children with high-grade VUR in the long term. This damage may progress with the development of scar tissue in some patients. The TLR4 gene is an important resistance mechanism, especially against UTIs. TLR4 gene polymorphism is associated with recurrent UTIs and kidney scar development in the long term. This study aimed to examine the relationship between scar development and TLR4 gene polymorphism in children with VUR. This cross-sec
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16

Erkan, Arpacı1* and Sevim Karakas Celik2. "Can Toll-Like Receptor 4 Gene Polymorphism Play A Role in Pathogenesis of Breast Cancer?" Mega Journal of Oncoloy 8, no. 3 (2025): 2001–9. https://doi.org/10.5281/zenodo.15131362.

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<strong>Abstract</strong> <strong>Introduction</strong>: Breast cancer is one of the most common causes of death from cancer in women worldwide. Dynamic interaction between tumors and the immune system is essential for tumor survival, growth, and metastasis. The immune system is known to play a major role in preventing tumor progression by recognizing tumor antigens. Recent studies have shown that dysregulation of innate immunity receptors such as Toll-like receptors (TLRs) play an important role in the activation of natural and adaptive immunity in response to endogenous hazard signals from p
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17

Salamaikina, Svetlana, Ekaterina Kulabukhova, Vitaly Korchagin, Olga Khokhlova, Konstantin Mironov, and Vasiliy Akimkin. "Toll-Like Receptor Genes and Risk of Latent Tuberculosis Infection in People Infected with HIV-1." Viruses 16, no. 9 (2024): 1371. http://dx.doi.org/10.3390/v16091371.

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The purpose of this study was to determine the contribution of genetic factors, i.e., the level of expression and polymorphisms of Toll-like receptors (TLR), to the susceptibility of latent tuberculosis infection in a Russian cohort of individuals infected with HIV. The patients (n = 317) with confirmed HIV infection were divided into two groups according to the results of the STANDARD E TB-Feron test: 63 cases with a latent TB infection and 274 controls without LTBI. Total DNA and RNA were isolated from whole-blood samples. SNP genotyping and expression levels of five TLR genes (TLR1, TLR2, T
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18

Zhang, Chunlin, Zhiping Yang, Ping Luo, et al. "Association of TLR4 and TLR9 gene polymorphisms with the risk and progression of cervical lesions in HPV-infected women." Biomarkers in Medicine 17, no. 3 (2023): 133–42. http://dx.doi.org/10.2217/bmm-2022-0702.

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Aim: Toll-like receptors involved in tumor-associated inflammatory response, this study aimed to investigate the role of TLR4 and TLR9 gene polymorphisms in the risk and progression of HPV-related cervical lesions. Materials &amp; methods: A total of 220 cervical lesion patients and 227 healthy controls were enrolled. Single-nucleotide polymorphisms were genotyped using PCR-restriction fragment length polymorphism. Results: A significantly decreased risk of cervical lesions was observed to be associated with the TLR4 rs10116253 (C), rs1927911 (T) and rs10759931 (G) mutant alleles. rs187084-rs1
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Figueroa, Leandra, and Andrei Medvedev. "Asp299Gly polymorphism decreases TLR4-elicited activation of MyD88- and TRIF-dependent signaling pathways (116.17)." Journal of Immunology 186, no. 1_Supplement (2011): 116.17. http://dx.doi.org/10.4049/jimmunol.186.supp.116.17.

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Abstract Innate immune cells detect Gram-negative bacterial lipopolysaccharide (LPS) via Toll-like receptor (TLR) 4 that employs myeloid differentiation primary response gene (MyD) 88 and TIR-domain containing adapter-inducing IFN-β (TRIF) pathways to activate NF-κB, IRF3, and induce pro-inflammatory cytokines and type I IFNs, respectively. Asp299Gly and Thr399Ile TLR4 polymorphisms have been associated with an increased risk of Gram-negative sepsis and certain bacterial infections. The mechanisms by which these mutations impact TLR4 signal transduction are incompletely understood. We used tra
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Novák, Karel, Marek Bjelka, Kalifa Samake, and Terezie Valčíková. "Potential of <i>TLR</i>-gene diversity in Czech indigenous cattle for resistance breeding as revealed by hybrid sequencing." Archives Animal Breeding 62, no. 2 (2019): 477–90. http://dx.doi.org/10.5194/aab-62-477-2019.

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Abstract. A production herd of Czech Simmental cattle (Czech Red Pied, CRP), the conserved subpopulation of this breed, and the ancient local breed Czech Red cattle (CR) were screened for diversity in the antibacterial toll-like receptors (TLRs), which are members of the innate immune system. Polymerase chain reaction (PCR) amplicons of TLR1, TLR2, TLR4, TLR5, and TLR6 from pooled DNA samples were sequenced with PacBio technology, with 3–5× coverage per gene per animal. To increase the reliability of variant detection, the gDNA pools were sequenced in parallel with the Illumina X-ten platform
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Coste, Sorina-Cezara, Olga Hilda Orășan, Angela Cozma, et al. "Allelic, Genotypic, and Haplotypic Analysis of Cytokine IL17A, IL17F, and Toll-like Receptor TLR4 Gene Polymorphisms in Metabolic-Dysfunction-Associated Steatotic Liver Disease: Insights from an Exploratory Study." Life 14, no. 10 (2024): 1327. http://dx.doi.org/10.3390/life14101327.

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(1) Background: Interleukin 17 (IL17) and toll-like receptor 4 (TLR4) elevate the risk of metabolic and liver diseases. (2) Methods: This study’s objective was to explore the association of IL17 and TLR4 gene polymorphisms with MASLD susceptibility and test their effect on serum IL17 and TLR4 levels. A total of 43 patients with MASLD (MASH/MAFL) and 38 healthy individuals were genotyped for IL17F-A7488G, IL17A-G197A, TLR4-Asp299Gly, and TLR4-Thr399Ile polymorphisms using PCR-RFLP. ELISA methods determined IL17F, IL17A, and TLR4 serum levels. (3) Conclusions: Patients carrying the variant genot
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Abida, O., E. Bahloul, N. Elloumi, et al. "Toll-like-Receptor Gene Polymorphisms in Tunisian Endemic Pemphigus Foliaceus." BioMed Research International 2020 (November 5, 2020): 1–11. http://dx.doi.org/10.1155/2020/6541761.

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Pemphigus foliaceus (PF) is considered to be caused by the combined effects of susceptibility genes and environmental triggers. The polymorphisms of Toll-like receptors (TLRs) genes have been associated with the risk of various autoimmune diseases. The aim of this study was to evaluate the potential association of TLR2-3-4 and 7 gene polymorphisms with Tunisian PF. Fourteen polymorphisms were analyzed in 93 Tunisian PF patients compared to 193 matched healthy controls: rs5743703-rs5743709 and (GT)n repeat (TLR2); rs5743305, rs3775294, and rs3775291 (TLR3), rs4986790 and rs4986791 (TLR4); and r
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23

Salamaikina, Svetlana, Maria Karnaushkina, Vitaly Korchagin, Maria Litvinova, Konstantin Mironov, and Vasily Akimkin. "TLRs Gene Polymorphisms Associated with Pneumonia before and during COVID-19 Pandemic." Diagnostics 13, no. 1 (2022): 121. http://dx.doi.org/10.3390/diagnostics13010121.

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Background: The progression of infectious diseases depends on the characteristics of a patient’s innate immunity, and the efficiency of an immune system depends on the patient’s genetic factors, including SNPs in the TLR genes. In this pilot study, we determined the frequency of alleles in these SNPs in a subset of patients with pneumonia. Methods: This study assessed six SNPs from TLR genes: rs5743551 (TLR1), rs5743708, rs3804100 (TLR2), rs4986790 (TLR4), rs5743810 (TLR6), and rs3764880 (TLR8). Three groups of patients participated in this study: patients with pneumonia in 2019 (76 samples),
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Chrzęszczyk, Dariusz, Dagmara Baczyńska, and Tomasz Konopka. "TLR4 gene polymorphism in periodontitis." Journal of Stomatology (Czasopismo Stomatologiczne) 67, no. 4 (2014): 444–57. http://dx.doi.org/10.5604/00114553.1118748.

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Guo, Nan, Haokun Tian, Tiangang Song, and Yu Peng. "Association of TLR4 gene rs4986790 and rs4986791 polymorphisms with asthma susceptibility: meta-analysis and trial sequential analysis." Annals of Saudi Medicine 44, no. 3 (2024): 183–94. http://dx.doi.org/10.5144/0256-4947.2024.183.

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BACKGROUND: The current understanding of the correlation between TLR4 gene (toll-like receptor 4) rs4986790 and rs4986791 polymorphisms and asthma susceptibility is inconclusive, with studies and populations yielding conflicting results. OBJECTIVES: Evaluate this relationship using meta-analysis and trial sequential analysis (TSA). PATIENTS AND METHODS: Databases were systematically queried for relevant articles from the establishment of the database to 19 June 2023 adhering to predefined inclusion and exclusion criteria. Two authors independently conducted screening, data extraction, and qual
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Liu, Lu, Shuang He, Lin Jia, et al. "Correlation analysis of serum TLR4 protein levels and TLR4 gene polymorphisms in gouty arthritis patients." PLOS ONE 19, no. 4 (2024): e0300582. http://dx.doi.org/10.1371/journal.pone.0300582.

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Objective The Toll-like receptor (TLR) 4-mediated nuclear factor kappa B (NF-κB) signaling pathway regulates the production of inflammatory factors and plays a key role in the pathogenesis of gouty arthritis. The aim of the present study was to investigate the link among TLR4 gene polymorphisms at various loci, protein expression, and gouty arthritis susceptibility. Methods Between 2016 and 2021, a case-control study was used to collect a total of 1207 study subjects, including 317 male patients with gouty arthritis (gout group) and 890 healthy males (control group). The association between go
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Salamaikina, Svetlana, Vitaly Korchagin, Ekaterina Kulabukhova, et al. "Association of Toll-Like Receptor Gene Polymorphisms with Tuberculosis in HIV-Positive Participants." Epigenomes 7, no. 3 (2023): 15. http://dx.doi.org/10.3390/epigenomes7030015.

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Genetic factors in the HIV-background may play a significant role in the susceptibility to secondary diseases, like tuberculosis, which is the leading cause in mortality of HIV-positive people. Toll-like receptors (TLRs) are considered to be receptors for adaptive immunity, and polymorphisms in TLR genes can influence the activity of the immune response to infection. We conducted a case–control study of the association of TLR gene polymorphisms with the risk of tuberculosis coinfection in a multi-country sample of HIV-positive participants. Our study revealed certain associations between TLR4
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Schulz, Susanne, Martin Zielske, Sascha Schneider, et al. "Polymorphism of CD14 Gene Is Associated with Adverse Outcome among Patients Suffering from Cardiovascular Disease." Mediators of Inflammation 2021 (July 8, 2021): 1–10. http://dx.doi.org/10.1155/2021/3002439.

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Background. The biological link between severe periodontitis and cardiovascular disease is well established. Both complex inflammatory diseases are influenced by genetic background. Therefore, the impact of genetic variations of receptors of the innate immune system—(Toll-like receptors (TLRs)) TLR2, TLR4, cluster of differentiation 14 (CD14), and the transcription factor nuclear factor-κΒ (NF-κB)—was investigated. Materials and Methods. In this study (ClinicalTrials.gov identifier: NCT01045070), 1002 cardiovascular (CV) patients were included. In a 3-year follow-up period, new vascular events
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Bao, W. B., L. Ye, Z. Y. Pan, et al. "Analysis of polymorphism in the porcine TLR4 gene and its expression related to Escherichia coliF18 infection." Czech Journal of Animal Science 56, No. 11 (2011): 475–82. http://dx.doi.org/10.17221/3836-cjas.

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The genetic variation in exon 1 of the TLR4 gene was detected among a total of 893 animals, including Asian wild boars, 3 imported commercial and 10 Chinese indigenous pig breeds. The expression of TLR4 was assayed by RT-PCR and different expression between resistant and sensitive resource populations to ETEC F18 was analysed to discuss the role that the TLR4 gene plays in resistance. In this study, new alleles were detected in exon 1 of the TLR4 gene. These polymorphisms are significantly different between Chinese indigenous breeds and imported breeds. Based on the published TLR4 gene sequenc
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Iancu, Mihaela, Sorina-Cezara Coste, Angela Cozma, et al. "Metabolic Characteristics and Cytokine Gene Polymorphisms as Potential Risk Factors for a Higher Liver Fibrosis Stage in MASLD Patients: A Hospital-Based Study." International Journal of Molecular Sciences 26, no. 8 (2025): 3730. https://doi.org/10.3390/ijms26083730.

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Polymorphisms in the Toll-like receptor 4 (TLR4) and IL-17 cytokine genes play a role in liver fibrosis progression among patients with MASLD. The current study aimed to investigate whether the IL17 (A7448G and G197A) and TLR4 (Asp299Gly and Thr399Ile) gene polymorphisms are associated with increased liver fibrosis stages in MASLD patients. Genotyping for the IL17F-A7488G, IL17A-G197A, TLR4-Asp299Gly, and TLR4-Thr399Ile polymorphisms was performed on a sample of 42 MASLD patients and 39 healthy controls. Serum levels of IL17F, IL17A, and TLR4 were measured using ELISA techniques. Bivariate ana
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Fadil Jabber, Marwa, and Anfal Mohammed Khudhair. "Association between SNP rs4986790 and COVID-19 infection severity among Baghdad patients." Biomedicine 43, no. 4 (2023): 1188–92. http://dx.doi.org/10.51248/.v43i4.3108.

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Introduction and Aim: COVID-19, an infectious disease caused by the SARS-CoV-2 coronavirus, is distinguished by the manifestation of severe acute respiratory syndrome. Toll-like receptors (TLRs) are signaling molecules that play crucial roles in the innate immune system through their recognition of pathogen-associated molecular patterns in diverse microorganisms, including coronaviruses. The primary aim of this research was to investigate the plausible association between the TLR4 gene Asp299Gly polymorphism and the degree of infection severity among individuals who contracted COVID-19 in Bagh
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Tenhu, Elina, Johanna Teräsjärvi, Manuel Leite Cruzeiro, et al. "Gene Polymorphisms of TLR4 and TLR9 and Haemophilus influenzae Meningitis in Angolan Children." Genes 11, no. 9 (2020): 1099. http://dx.doi.org/10.3390/genes11091099.

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Bacterial meningitis (BM) is a severe disease caused by various bacterial pathogens. Toll-like receptors (TLRs) protect humans from invading pathogens. In this study, we determined whether single nucleotide polymorphisms (SNPs) of TLR4 and TLR9 are associated with susceptibility to and outcome of BM in Angolan children. Samples were taken from 241 patients and 265 age-matched ethnic controls. The SNPs TLR4 rs4986790 (896A &gt; G) and TLR9 rs187084 (−1486T &gt; C) were determined by high-resolution melting analysis (HRMA). The frequency of variant genotypes in TLR4 was significantly higher in p
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Elmaagacli, Ahmet H., Michael Koldehoff, Tania Gromke, Nina K. Steckel, and Dietrich W. Beelen. "TLR9 but Not NOD2/CARD15 Gene Polymorphism Influence Outcome in AML-Patients Transplanted From HLA-Identical Sibling Donors." Blood 114, no. 22 (2009): 1191. http://dx.doi.org/10.1182/blood.v114.22.1191.1191.

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Abstract Abstract 1191 Poster Board I-213 Background. We evaluated in a homogenous group of 101 AML-patients after non-T-cell depleted, myeloablative transplantation from HLA-identical sibling donors the role of gene polymorphism of TLR1, TLR4,TLR9, IL23R, and NOD2 on the outcome of transplant. TLR9 and NOD2 are part of the innate immune system, which are able to recognize and bind to the so-called pathogen-associated molecular patterns (PAMPs) from invading pathogens. They induce a rapid innate immune response to microbial invaders and thereby also an activation of the adoptive immune system.
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Wei, Jingjing, Hiroki Kurumi, Hajime Isomoto, et al. "Toll-like Receptor Gene Polymorphisms as Predictive Biomarkers for Response to Infliximab in Japanese Patients with Crohn’s Disease." Diagnostics 15, no. 8 (2025): 971. https://doi.org/10.3390/diagnostics15080971.

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Objectives: To explore the possible relationship between Toll-like receptor (TLR) gene encoding and a predictive outcome for the loss of response (LOR) to IFX treatment among Japanese patients with Crohn’s disease (CD). Methods: An association analysis that involved 25 single-nucleotide polymorphisms (SNPs) across the TLR1, TLR2, TLR4, TLR6, TLR9, and TLR10 genes was performed on a cohort of 127 Japanese patients with CD. The therapeutic responses were evaluated at 10 weeks, 1 year, and 2 years using three different inheritance models. Results: The CD patients with a G/G genotype of rs5743565
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Kulibaba, R. O., Yu V. Liashenko, S. V. Kulibaba, and M. I. Sakhatskyi. "Gene polymorphism in a population of Charolais beef cattle using DNA-markers." Agricultural Science and Practice 11, no. 1 (2024): 14–25. http://dx.doi.org/10.15407/agrisp11.01.014.

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Aim. To study the polymorphism of genes, associated with resistance to different diseases (TLR1, TLR4, SLC11A1, TLR1, TLR4, IFNGR2, SLC11A1, TNFα, and MBL1) in the population of Charolais beef cattle. Methods. The studies were conducted using the methods of polymerase chain reaction and the restriction fragment length polymorphism (PCR-RFLP); the artificially created restriction site-PCR (ACRS-PCR) was used to study the polymorphism of gene MBL1. Results. In the population (n = 100) of Charolais cattle, genes TLR1, IFNGR2, SLC11A1, TNFα, and MBL1 were polymorphic, while TLR4 was found to be mo
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Selala, Lebelo, Teedzai Chitura, Vusi Mbazima, and Louis Tyasi. "Genetic variations of Toll-like receptor 4 gene in exon 2 of South African Dorper sheep." Journal of Advanced Veterinary and Animal Research 11, no. 2 (2024): 302. http://dx.doi.org/10.5455/javar.2024.k777.

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Objective: The study was conducted to identify the sequence variation of Toll-like receptor 4 (TLR4) in exon 2 of South African Dorper sheep. Materials and Methods: Blood samples were collected from fifty (n = 50) South African Dorper sheep aged between 3 and 4 years. The Deoxyribonucleic acid (DNA) was extracted, amplified, and sequenced for the TLR4 gene. DNA sequencing was used to identify the sequence variations of the TLR4 gene in South African Dorper sheep. Results: The results showed that one synonymous single nucleotide polymorphism (SNP) of the TLR4 gene in exon 2 position T2249C was
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Musa, Mazin Babekir, Ismail Abdalsamad, Najwa A. Mhmoud, Haghamad Allzain, and Sahar M. Bakhiet. "TOLL LIKE RECEPTOR-4 GENE ASPARTATE 299 GLYCINE POLYMORPHISM IN SUDANESE PATIENTS WITH MYCETOMA." International Journal of Research -GRANTHAALAYAH 9, no. 2 (2021): 187–92. http://dx.doi.org/10.29121/granthaalayah.v9.i2.2021.3492.

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Background: Mycetoma is a neglected tropical disease characterized by deformity and disabilities with various medical, health, and socioeconomic impacts on the affected communities. The etiological factors associated with Mycetoma have not been fully understood, however genetic predisposition and inflammation are considered as Mycetoma risk factors. Toll like receptors (TLRs) are key players in the innate immune response and play a great role in immune-surveillance and inflammation. This study was conducted to investigate the potential role of TLR4 polymorphism (Asp299Gly) as a risk factor for
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Li, Tan, Xiaozheng Liu, Hongxia Ning, Xintong Li, Jun Yang, and Chunyan Ma. "Association of Toll-Like Receptor 4 Gene Polymorphisms with Acute Aortic Dissection in a Chinese Han Population." BioMed Research International 2020 (December 8, 2020): 1–11. http://dx.doi.org/10.1155/2020/8306903.

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Background. Inflammation may be involved in the pathogenesis of acute aortic dissection (AAD). Toll-like receptor 4 (TLR4) is known to play a critical role in regulating the immune and inflammatory processes. To date, the relationship between genetic variation of TLR4 and AAD is far from clear. The purpose of our study was to illustrate the relevance of TLR4 polymorphisms with the susceptibility to AAD. Methods. A total of 222 AAD patients and 222 controls were enrolled in this study. Frequency distributions of TLR4 polymorphisms (rs10759932 in the promoter and rs11536889 in the 3 ′ -untransla
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Assaad, Shafika, Christy Costanian, Lama Jaffal, Fida Tannous, Maria G. Stathopoulou, and Said El Shamieh. "Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection." Journal of Personalized Medicine 9, no. 1 (2019): 2. http://dx.doi.org/10.3390/jpm9010002.

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Helicobacter pylori (H. pylori) infection is the strongest recognized risk factor for gastric adenocarcinoma. Since previous observations have shown that polymorphisms in innate immune system genes, as well as vitamin D (VitD) levels, could modify the risk of infection with Helicobacter pylori (H. pylori), we analyzed the relation between single nucleotide polymorphisms (SNPs) in TLRs (TLR1, TLR2, TLR4) CD14, RUNX3 and VitD levels with H. pylori infection. A case-control study on four hundred sixty Lebanese individuals was conducted. Eleven SNPs in total were genotyped and gene expression anal
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Wei, Meirong, Shuzhen Liu, Song Liu, and Xiaofeng Wang. "TLR4 Gene Polymorphisms and Susceptibility to Gastric Carcinoma and Epstein-Barr Virus-associated Gastric Carcinoma in Northern China." International Journal of Sciences Volume 4, no. 2015-10 (2015): 22–30. https://doi.org/10.5281/zenodo.3349025.

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Background: Various polymorphisms in toll like receptor (TLR) genes have been identified and are associated with susceptibility to various malignancies, such as gastric carcinoma (GC), hepatocellular carcinoma, papillary thyroid cancer, and prostate cancer. However, little is known about the polymorphisms of TLR genes and the susceptibility to GC in Northern China, especially to Epstein–Barr virus associated GC (EBVaGC). The aim of our study was to evaluate the potential associations between the single nucleotide polymorphisms (SNPs) of TLR genes and the risk of GC, especially to EBVaGC. Metho
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Xuan, Nguyen Thi, Le Thuy Ha, and Dang Thanh Chung. "Association between genotypes of \(\textit{TLR4}\) gene rs2149356 polymorphism and serum level of il-6 in Vietnamese patients with gout." Academia Journal of Biology 43, no. 2 (2021): 11–16. http://dx.doi.org/10.15625/2615-9023/15727.

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Gout is an inflammatory type of arthritis caused by the deposition of crystals of monosodium urate monohydrate (MSU) in the joints. The arthritis is mediated by the release of pro-inflammatory cytokines including IL-1β, TNF-α and IL-6 by leukocytes including macrophages. Toll-like receptor (TLR)4 is expressed in the immune cells to initiate immune response by inducing activation of signaling molecules involved in the transcription of nuclear genes. In this study, mutational analysis of TLR4 gene was examined to determine the prevalence of gene polymorphism in Vietnamese patients with gout. Mol
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Bilyayeva, Olga, Vadim Kryzhevsky, Ivan Karol, and Serhii Ziablitzev. "The association of TLR4 gene polymorphisms with the severity of peritonitis in acute inflammatory diseases of the abdominal cavity organs." Wiadomości Lekarskie 77, no. 1 (2024): 35–41. http://dx.doi.org/10.36740/wlek202401105.

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Aim: To determine the role of TLR4 gene polymorphisms as risk factors for peritonitis severity in patients undergoing surgery for acute inflammatory diseases of the abdominal cavity. Materials and Methods: The study included 139 patients who were operated on for acute abdominal diseases (acute appendicitis and cholecystitis, perforated gastric or duodenal ulcer, etc.). Depending on the number of points on the modified APACHE II scale, patients were divided into two groups: Group 1 - 1-3 points (63 patients, 45.3%) and Group 2 - 4 or more points (76 patients, 54.7%). Polymorphisms rs1927911, rs
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Salamaikina, S. А., V. I. Korchagin, К. О. Mironov, Е. I. Kulabukhova, V. N. Zimina, and А. V. Kravtchenko. "Toll-like receptor gene polymorphisms in a population-based study of HIV and tuberculosis patients from Eastern Europe and Central Asia." Генетика 60, no. 4 (2024): 84–93. http://dx.doi.org/10.31857/s0016675824040071.

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Genetic diversity of human populations is determined by polymorphic variants of immune response genes and can be linked to the variation in responses to infectious agents. This study compared allele and genotype frequencies of polymorphic variants of TLR1, TLR2, TLR4, TLR6 and TLR8 genes between samples from Eastern Europe and Central Asia. We included 680 unrelated individuals from Eastern Slavic (n = 308), Armenian (n = 137), Tajik (n = 138) and Kyrgyz (n = 97) samples of patients with confirmed diagnoses of HIV and tuberculosis. The international 1000 Genomes Project data - samples of Cauca
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Akkuş, Nejmiye, Figen Güzelgül, Süheyla Uzun, Tuncay Yiğit, Kadir Kabahasanoğlu, and Marwa Abdelmageed. "Effects of TLR4 and TLR7 genes on the immune system in COVID-19 patients." Cukurova Medical Journal 49, no. 4 (2024): 1044–50. https://doi.org/10.17826/cumj.1527837.

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Purpose: This study aimed to investigate the effects of TLR4 and TLR7 gene polymorphisms on the immunity of COVID-19 patients. Materials and Methods: A total of 210 COVID-19 patients were divided into two groups. Group 1: COVID-19 patients experiencing severe respiratory complications requiring intensive care unit admission (n=107). Group 2: COVID-19 patients with mild SARS-CoV-2 infection who have been recovered without requiring any treatment or hospitalization (n=103). Whole blood samples (2 mL) were collected for DNA isolation and genotyping. Genotyping analyses were then conducted using t
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Kulibaba, R., Yu Liashenko, and O. Ivashchenko. "Polymorphism of TLR1, TLR4, and SLC11A1 genes in populations of different cattle breeds of Ukrainian selection." Agricultural Science and Practice 8, no. 3 (2021): 25–34. http://dx.doi.org/10.15407/agrisp8.03.025.

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Aim. To study the specificities of population genetic structure of Ukrainian Black-and-White dairy breed, Ukrainian Red-and-White dairy breed, and Ukrainian Grey cattle breed by polymorphism of TLR1, TLR4, and SLC11A1 genes. Methods. The study was conducted using the method of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results. The results of the study demonstrated that in all the experimental populations, the locus TLR4 by mutations 8732G&gt;A, 8834G&gt;C, and 2021C&gt;T was monomorphic, while loci TLR1 (1596G&gt;A) and SLC11A1 (7400C&gt;G and 7808A&gt;
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Shabaldin, A. V., A. V. Sinitskaya, and S. A. Shmulevich. "Role of cytokine and Toll-like receptor genes in pathogenesis of inborn heart disease." Medical Immunology (Russia) 24, no. 3 (2022): 605–16. http://dx.doi.org/10.15789/1563-0625-roc-2488.

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Sporadic congenital heart disease (CHD) may result from immune disorders in the mother – embryo system and/or constitutional disorders in regulatory systems, including those associated with TLR receptors, cytokines and their receptors. The aim of our study was to investigate associations between cytokine and TLR genes and sporadic congenital heart disease in children. In the main group, 188 children with sporadic (without family history) congenital heart defects were examined. Separate groups of CHD were identified: septal CHD – 98 children; valvular heart disease – 17 children; Fallot tetralo
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Allami, Risala H., Muhanad Najm Abdullah, Basma K. Al-Ani, Rawaa AlChalabi, and Sawsan S. Hamzah. "Study of the association of toll like-4 receptor gene polymorphism (rs1927911) and susceptibility to urinary tract infection among Iraqi patients." Biomedicine 43, no. 1 (2023): 221–24. http://dx.doi.org/10.51248/.v43i1.2424.

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Introduction and Aim: Toll-like receptors (TLRs) are cell innate immune receptors that explore microbial molecules. A quantity of single-nucleotide polymorphisms (SNPs) within the TLR genes have been related with altered susceptibility to infectious, inflammatory, and allergic diseases suggesting: This study was conducted to investigate the relationship between genetic polymorphism in TLR4 gene (rs1927911) with susceptibility to UTIs in a sample of Iraqi patients. Materials and Methods: Blood samples were collected from 220 patients who had UTIs and 69 healthy subjects as control group, during
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48

Rittersma, Saskia ZH, Johanna A. Kremer Hovinga, Karel T. Koch, et al. "Relationship between In Vitro Lipopolysaccharide-Induced Cytokine Response in Whole Blood, Angiographic In-Stent Restenosis, and Toll-Like Receptor 4 Gene Polymorphisms." Clinical Chemistry 51, no. 3 (2005): 516–21. http://dx.doi.org/10.1373/clinchem.2004.041277.

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Abstract Background: In coronary in-stent restenosis (ISR), a substantial contribution of inflammation is assumed. We evaluated the association between polymorphisms in the Toll-like receptor 4 (TLR4) gene and cytokine response after lipopolysaccharide (LPS) challenge and the development of ISR. Methods: Patients were included after successful elective stent placement in a native coronary artery and were scheduled for follow-up angiography after 6 months. Quantitative coronary analysis was performed off-line. Patient whole blood was challenged with LPS for 24 h. Baseline and stimulated concent
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Voropai, A. A., M. A. Levkovich, G. A. Galkina, M. V. Komkova, and M. V. Morozova. "ROLE OF TLR2, TLR4 GENE POLYMORPHISM IN DEVELOPING MICROVASCULAR COMPLICATIONS IN ADOLESCENTS WITH TYPE 1 DIABETES MELLITUS." Medical Immunology (Russia) 23, no. 4 (2021): 895–902. http://dx.doi.org/10.15789/1563-0625-rot-2271.

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Long-term complications of type 1 diabetes mellitus (T1DM) in children and adolescents are an important problem in modern medicine. Recently, the role of immune mechanisms, in particular, chronic inflammation, in the development of both T1DM and its microvascular complications has been actively discussed. Activation of Toll-like receptor 2 (TLR2) and Toll-like receptor 4 (TLR4) leads to hyperproduction of proinflammatory cytokines, chemokines, adhesion molecules involved in the formation of diabetic microvascular complications. At the same time, TLR2 and TLR4 gene polymorphism alters the immun
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Li, Zhixiong, Huilin Zhang, Hongliang Wang, et al. "Polymorphism in the promoter of <i>TLR4</i> gene by PCR-RFLP and its association with somatic cell score in Chinese Holstein." Archives Animal Breeding 57, no. 1 (2014): 1–6. http://dx.doi.org/10.7482/0003-9438-57-006.

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Abstract. The objective of this study was to examine the effect of the polymorphism in the promoter of toll-like receptor 4 (TLR4) on mastitis and milk production traits. Two novel single nucleotide polymorphisms (SNPs) G-1539A before 5’-upstream region and G+265C in the 5’-UTR of TLR4 gene were detected, and genetic association analysis was applied on 421 Chinese Holstein cows. The statistical analysis indicated that two SNPs was significantly associated with 305 Days milk yield (P&lt;0.05) and somatic cell score (SCS) respectively (P&lt;0.01). Our results provide evidence that polymorphisms
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