Toll-Like Receptor 9 (TLR9) Gene C/T (rs352140) Polymorphisms in Adult Primary Immune Thrombocytopenia

Abstract

Immune thrombocytopenia (ITP) is an autoimmune disease characterized by low platelet count and increased bleeding risk. The initial event(s) leading to antiplatelet autoimmunity remains unclear. Toll-like receptors (TLRs) are the most well-characterized pattern recognition receptors and are a transmembrane protein coded by the Toll genes family. In addition to their protective role in immunity, it is also becoming clear that TLRs exhibit homeostatic roles. Toll-like receptors play potential roles in the development of disease and its maintenance. The objective of this study is to evaluate the distribution of TLR9 gene C/T (rs352140) polymorphisms and its possible association with clinicopathological finding in Egyptian adult primary ITP. This study was carried out at Internal Medicine Department, Menoufia University Hospital, Egypt, from August 2018 to January 2020. Eighty adults (≥ 18 years) were enrolled in the study; 40 patients with primary ITP and 40 healthy individuals as controls. Identification of the TLR9 C/T (rs352140) polymorphic variant was performed by polymerase chain reaction–restriction fragment length polymorphism. In our study, we excluded any other causes of secondary ITP. Distribution of the TLR9 C/T genotypes did not exhibit significant deviation between patients and controls. There was no significant difference between studied groups as regards allele (C and T) frequency. There was no significant difference regarding TLR9 gene C/T (rs352140) polymorphisms between Egyptian adult with primary ITP and controls. TLR9 gene C/T (rs352140) polymorphisms have no relation to any of the clinicohematological variables in primary ITP in Egyptians.

Endothelial Activation and Immune Thrombocytopenia: An Engagement Waiting for Consolidation

“…There was a statistically significant difference between studied patients’ platelet count as regards to WHO bleeding scale. This is in agreement with Di Micco and Monreal, 22 Hassan and colleagues 23 who confirmed that patients with a very low platelet count had a higher rate of major bleeding, 1.2% of these patients had <80 000 platelet/µL and revealed that these patients had increased risk for major bleeding and fatal bleeding than those with normal platelet count.…”

Innate immunity – the hallmark of Helicobacter pylori infection in pediatric chronic gastritis

“…By contrast, no association was encountered between TLR9 rs5743836 (or -1237T/C) promoter polymorphisms and the risk of gastric cancer[ 38 ]. The role of TLR9 rs352140 polymorphism was assessed in patients with different conditions such as renal transplantation[ 39 ], systemic lupus erythematous[ 40 ], bacterial meningitis[ 41 ], primary immune thrombocytopenia[ 42 ], cervicitis[ 43 ], cervical cancer[ 44 ], or placental inflammation[ 45 ]. In terms of gastropathy and TLR9 rs352140 SNP, the data are scarce.…”

Toll‐like receptors and IL‐7 as potential biomarkers for immune‐mediated necrotizing myopathies

“…Sequencing of the TLR9 gene showed one variant c.1635G>A (p.P545P, rs352140) (Supporting information Table 3) with a genotype distribution in this study group of 25% heterozygotes GA, 25% homozygotes AA and 50% homozygotes GG. The rs352140 polymorphism was already notified in several disorders, such as primary immune thrombocytopenia [28], systemic lupus erythematosus [29], vasculitis [30] and HCV [31], highlighting a primary role of this polymorphism in the dysregulation of immune response in susceptible individuals. Therefore, in our study, the identification of specific SNPs seems not to correlate with an imbalance between TLR9 protein and transcript level in IMNM, but they are probably involved in the modulation of immune response promoting necrotizing myopathies.…”