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. 2022 May;86(3):137-144.
doi: 10.1111/ahg.12458. Epub 2022 Feb 7.

Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility

Nesrine Elloumi  1 , Safa Tahri  1 , Raouia Fakhfakh  1 , Olfa Abida  1 , Nadia Mahfoudh  2 , Hend Hachicha  1 , Sameh Marzouk  3 , Zouhir Bahloul  3 , Hatem Masmoudi  1
Affiliations

Role of innate immune receptors TLR4 and TLR2 polymorphisms in systemic lupus erythematosus susceptibility

Nesrine Elloumi et al. Ann Hum Genet. 2022 May.

Abstract

Aim: Through their recognition of various bacterial cell wall components, TLR2 and TLR4 participate in the innate response and modulate the activation of adaptive immunity. Therefore, the genetic background of these receptors might play a crucial role in autoimmune diseases such as systemic lupus erythematosus (SLE). In this study, we investigated the possible association between polymorphisms within TLR2 and TLR4 genes with SLE susceptibility.

Material and methods: A total of 100 SLE patients and 200 unrelated healthy controls of the Tunisian population were enrolled in the study.TLR4rs4986790, TLR4rs4986791, and TLR2rs5743708 genotyping were performed using a polymerase chain reaction-restriction fragment length polymorphism method. The number of guanine-thymine (GT) repeat microsatellite in the intron 2 of TLR2 gene was analyzed by sequencing.

Results: We reported a lack of allelic and genotypic association between SNPs of TLR4 and TLR2 genes and SLE pathogenesis. No correlation was found with any SLE features. However, SLE susceptibility was associated with the GT repeat microsatellite polymorphism in the human TLR2 gene. Further subclassification of alleles into three subclasses revealed a significant association between the long-sized repeats ((GT) >23) and SLE.

Conclusion: Though the results showed the absence of genetic association of TLR4 and TLR2 SNPs with the risk of developing SLE, we have identified a protective association between the microsatellite polymorphism in intron 2 of the TLR2 gene and SLE. Functionally, these (GT)n repeats may confer modifying effects or susceptibility to certain inflammatory conditions.

Keywords: (GT) repeat microsatellite; TLR2 polymorphisms; TLR4 polymorphisms; innate immune receptors; systemic lupus erythematosus.

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References

REFERENCES

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