Genetic variation in toll-like receptor 4 gene with primary antiphospholipid syndrome susceptibility: a cohort of Egyptian patients

Abstract

Background As toll-like receptor 4 (TLR4) plays important roles in cellular immunity and TLR4 polymorphisms have been shown to be associated with susceptibility to a range of diseases, the present study aimed to investigate the association between TLR4 gene polymorphisms and the incidence of primary antiphospholipid syndrome (PAPS). Methods Two TLR4 single nucleotide polymorphisms (rs4986790 and rs4986791) were assessed in 110 subjects of Egyptian ethnicity, including 65 female patients with PAPS and 45 matched healthy controls, using polymerase chain reaction-restriction fragment length polymorphism. Results were verified using automated sequencing. Results The homozygous wild-type (AA, aspartic acid) rs4986790 variant and (CC, threonine) rs4986791 variant were the predominant genotypes in the control and PAPS groups. Conclusion The results of this preliminary study of TLR4 gene variants among patients with PAPS in an Egyptian population found no association between the rs4986790 and rs4986791 variants and susceptibility to PAPS.

Molecular Effect of Variants in Toll-like Receptor 4 Gene in Saudi Patients with Type 2 Diabetes Mellitus

“…Demographic studies have discovered a limit of 40-50 cases per 100,000 individuals in the general population. APL begins to interact with several cell types, ranging from endothelial cells to trophoblast cells, resulting in the activation of the coagulation and complement systems as well as the suppression of fibrinolytic processes by aPLs via cell surface receptors, including TLR, which are members of the pattern recognition receptor family and play a crucial role in the innate immune system [27]. TLRs are classified into ten types, with TLR2 and TLR4 responsible for detecting Gram-positive and Gram-negative bacteria, respectively [28].…”

Study of (TLR-4) Gene Polymorphism (rs4986791) in Type 2 Diabetes and Diabetic Nephropathy in Egyptian Patients

“…Numerous coding and non-coding variants at the TLR-4 locus are linked to corresponding illnesses, supporting the idea that TLR-4 plays a significant functional role in the evolution of inflammatory disorders (18) . TLR-4 gene SNPs are linked to a variety of inflammatory and autoimmune illnesses, and they can interfere with intracellular signaling in mononuclear cells, triggering immunological reactions (19) . Different illness susceptibilities can be linked to differences in variant allele frequencies between various ethnic regions (20) .…”