Genetic polymorphisms of TLR1, TLR2, TLR3 and TLR4 in patients with recurrent or severe infections.

Autor: Teräsjärvi J; Institute of Biomedicine, Research Center of Infections and Immunity, University of Turku, Turku, Finland., Kainulainen L; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Turku, Finland.; Department of Medicine, Turku University Hospital, Turku, Finland., Peltola V; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Turku, Finland.; InFLAMES Research Flagship Center, University of Turku, Turku, Finland., Mertsola J; Department of Pediatrics and Adolescent Medicine, Turku University Hospital, Turku, Finland.; InFLAMES Research Flagship Center, University of Turku, Turku, Finland., Hakanen A; InFLAMES Research Flagship Center, University of Turku, Turku, Finland.; Department of Clinical Microbiology, Turku University Hospital, Turku, Finland., He Q; Institute of Biomedicine, Research Center of Infections and Immunity, University of Turku, Turku, Finland.; InFLAMES Research Flagship Center, University of Turku, Turku, Finland.
Jazyk: angličtina
Zdroj: International journal of immunogenetics [Int J Immunogenet] 2024 Aug; Vol. 51 (4), pp. 242-251. Date of Electronic Publication: 2024 May 05.
DOI: 10.1111/iji.12676
Abstrakt: Toll-like receptors (TLRs) play an important role in innate immunity. Previous studies have shown that single nucleotide polymorphisms (SNPs) in the genes coding for these innate immune molecules can affect susceptibility to and the outcome of certain diseases. The aim of the present study was to examine the clinical relevance of well-studied TLR1-4 SNPs in individuals who are prone to infections. Four functional SNPs, TLR1 rs5743618 (1805C > A, Ser602Ile), TLR2 rs5743708 (2258G > A, Arg753Gln), TLR3 rs3775291 (1234C > T, Leu412Phe) and TLR4 rs4986790 (896A > G, Asp299Gly), were analysed in 155 patients with recurrent respiratory infections (n = 84), severe infections (n = 15) or common variable immunodeficiency (n = 56), and in 262 healthy controls, using the High Resolution Melting Analysis method. Polymorphisms of TLR2 rs5743708 (odds ratio [OR] 3.16; 95% confidence interval [CI] 1.45-6.83, p = .004, ap = .016) and TLR4 rs4986790 (OR 1.8; 95% CI 1.05-3.12, p = .028, ap = .112) were more frequent in patients with recurrent or severe infections than in controls. Interestingly, seven patients were found to carry both variant genotypes of TLR2 and TLR4, whereas none of the control group carried such genotypes (p  ≤ .0001). Moreover, TLR2 polymorphism was associated with increased risk for acute otitis media episodes (OR, 3.02; 95% CI 1.41-6.47; p = .012). This study indicates that children and adults who are more prone to recurrent or severe respiratory infections carry one or both variant types of TLR2 and TLR4 more often than control subjects. Genetic variations of TLRs help explain why some children are more susceptible to respiratory infections.
(© 2024 The Authors. International Journal of Immunogenetics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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